Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
GENE INFORMATION
LOCU
S
BASES
1
8p23.3
2
NAME
OTHER
NAMES
Gene
ID
MIM
7101-11265
hypothetical
LOC728836
LOC728836
728836
protein
coding
8p23.3
106086107024
OR4F21:
olfactory receptor,
family 4,
subfamily F,
member 21
OR4F olfactory
receptor, family 4,
subfamily F,
member 21
pseudogene21P,
441308
protein
coding
3
8p23.3
140551131884
protein
coding
8p23.3
148344172227
644128
pseudogene
5
8p23.3
172200187339
LOC100132317;
similar to
C20orf69 protein
FLJ45055;
FLJ45055;
DKFZp434B1135
FLJ36123
1001323
17
4
LOC100132317
similar to
C20orf69 protein
FLJ45055: 60S
ribosomal
pseudogene
ZNF596: zinc
finger protein 596
169270
protein
coding
6
8p23.3
172367173692
LOC728686:
hypothetical
LOC728686
728686
pseudogene
7
8p23.3
315931318394
protein
coding
8p23.3
318394317776
family with
sequence
similarity 87,
member A
FLJ40008
157693
8
400728
protein
coding
9
8p23.3
346808409876
FAM87A: family
with sequence
similarity 87,
member A
FAM87B: family
with sequence
similarity 87,
member B
FBXO25: F-box
protein 25
FBX25,
MGC20256,
MGC51975
26260
609098
Gene type
protein
coding
SUMMARY
Olfactory receptors interact with odorant molecules in the nose, to initiate a
neuronal response that triggers the perception of a smell. The olfactory
receptor proteins are members of a large family of G-protein-coupled
receptors (GPCR) arising from single coding-exon genes. Olfactory
receptors share a 7-transmembrane domain structure with many
neurotransmitter and hormone receptors and are responsible for the
recognition and G protein-mediated transduction of odorant signals. The
olfactory receptor gene family is the largest in the genome. The
nomenclature assigned to the olfactory receptor genes and proteins for this
organism is independent of other organisms.
GENE ONTOLOGY
FUNCTION
PROCESS
COMPONENT
olfactory receptor
activity
receptor activity
G-protein coupled receptor
protein signaling pathway
response to stimulus
sensory perception of smell
signal transduction
integral to membrane
plasma membrana
DNA binding
metal ion binding
zinc ion binding
regulation of transcription,
DNA-Dependent
transcription
intracellular
nucleus
integral to membrane
membrane
This gene encodes a member of the F-box protein family which is
characterized by an approximately 40 amino acid motif, the F-box. The Fbox proteins constitute one of the four subunits of ubiquitin protein ligase
complex called SCFs (SKP1-cullin-F-box), which function in
phosphorylation-dependent ubiquitination. The F-box proteins are divided
into 3 classes: Fbws containing WD-40 domains, Fbls containing leucinerich repeats, and Fbxs containing either different protein-protein interaction
modules or no recognizable motifs. The protein encoded by this gene
belongs to the Fbxs class. Three alternatively spliced transcript variants
encoding distinct isoforms have been found for this gene.
ubiquitin-protein ligase
activity
protein ubiquitination
nucleus
ubiquitin ligase
complex
1
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
10
8p23.3
11
8p23.3
431646485331
12
8p23.3
597527599962
13
8p23.3
599962597527
14
8p23.3
15
8p23.3
604200671226
678545680374
16
8p23.3
6776511250805
17
8p23.3
14369761644049
18
8p23.3
16657791692574
Q8NB26:
LOC286161
hypothetical
protein
LOC28616
C8orf42:
chromosome 8
open reading
frame 42
LOC389607:
hypothetical gene
supported by
AK128318
Q6ZRD0:
hypothetical gene
supported by
AK128318
ERICH1:
glutamate-rich 1
LOC401442:
hypothetical gene
supported by
BC028401
C8orf68:
chromosome 8
open reading
frame 68
DLGAP2: discs,
large (Drosophila)
homologassociated protein
LOC10013032:hy
pothetical
LOC100130321
hypothetical
protein
LOC286161,
LOC286161
286161
unknown
DKFZp686J1521
6, INM01
157695
protein
coding
LOC389607
389607
unknown
LOC389607
389607
unknown
HSPC319
157697
protein
coding
unknown
401442
619343
DAP2, SAPAP2
: PSD-95/SAP90binding protein 2;
SAP90/PSD-95associated protein
2; discs largeassociated protein
2
9228
1001303
21
Annotation category: not annotated on reference assembly
protein
coding
605438
protein
coding
The product of this gene is one of the membrane-associated guanylate
kinases localized at postsynaptic density in neuronal cells. These kinases are
a family of signaling molecules expressed at various submembrane domains
and contain the PDZ, SH3 and the guanylate kinase domains. This protein
may play a role in the molecular organization of synapses and in neuronal
cell signaling. Alternatively spliced transcript variants encoding different
isoforms have been identified, but their full-length nature is not known.
Increased expression of PSD-25 and its coassembly with NMDA-receptor
subunits NR1 and MR2B in resected epileptic cortical tissue suggest a
possible functional role of the complex in situ epileptogenicity of focal
cortical dysplasia.
protein bindimg
cell-cell signaling
nerve-nerve synaptic
transmission
cell junction
Neurofilament
plasma membrane
postsynaptic membrane
Synapse
pseudogene
2
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
19
8p23.3
16992771722143
CLN8: ceroidlipofuscinosis,
neuronal 8
C8orf61, EPMR,
FLJ39417
2055
20
8p23.3
693181
8p23.3
MIRN596:
microRNA 596
ARHGEF10: Rho
guanine
nucleotide
exchange factor
(GEF) 10
hsa-mir-596
21
17528801752804
17595561894214
DKFZp686H072,
GEF10,
MGC131664:
Rho guanine
nucleotide
exchange factor
10
9639
607837
608136
protein
coding
This gene encodes a transmembrane protein belonging to a family of
proteins containing TLC domains, which are postulated to function in lipid
synthesis, transport, or sensing. The protein localizes to the endoplasmic
reticulum (ER), and may recycle between the ER and ER-Golgi
intermediate compartment. Mutations in this gene are associated with
progressive epilepsy with mental retardation (EMPR), which is a subtype of
neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene
have altered levels of sphingolipid and phospholipids in the brain.
miscRNA
Annotation category: not annotated on reference assembly
protein
coding
Rho GTPases play a fundamental role in numerous cellular processes that
are initiated by extracellular stimuli that work through G protein coupled
receptors. The encoded protein may form complex with G proteins and
stimulate Rho-dependent signals. Data support a role for ARHGEF10 in
developmental myelination of peripheral nerves. Gef10 is the third member
of a Rho-specific GEF family with unusual protein architecture
adult walking behavior
age-dependent response to
oxidative stress
associative learning
cellular protein catabolic
process
ceramide biosynthetic
process
cholesterol metabolic
process
glutamate uptake during
transmission of nerve
impulse
lipid biosynthetic process
lipid transport
lysosome organization and
biogenesis
mitochondrial membrane
organization and biogenesis
negative regulation of
apoptosis
negative regulation of
proteolysis
negative regulation of
transferase activity
nervous system
development
neurofilament cytoskeleton
organization and biogenesis
neuromuscular process
controlling balance
neuromuscular process
controlling posture
phospholipid metabolic
process
photoreceptor cell
maintenance
regulation of cell size
retina development in
camera-type eye
social behavior
spinal cord motor neuron
differentiation
Rho guanyl-nucleotide
exchange factor activity
guanyl-nucleotide
exchange factor activity
regulation of Rho protein
signal transduction
ER-Golgi intermediate
compartment
membrane
endoplasmic reticulum
endoplasmic reticulum
membrane
integral to membrane
Membrane
Intracellular
3
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
22
8p23.3
18729961873789
LOC100131395:
hypothetical
protein
LOC100131395
LOC100128 157:
similar to
hCG2041134 157
KBTBD11:
similar to Kelch
repeat and BTB
domaincontaining protein
11 (Kelch
domaincontaining protein
7B)
MYOM2:
myomesin (Mprotein) 2,
165kDa
LOC100131395
1001313
95
protein
coding
23
8p23.3
19082361910204
LOC100128157
1001281
57
protein
coding
24
8p23.3
19094511942509
KBTBD11
716519
pseudogene
25
8p23.3
19805652080787
TTNAP: M-band
protein;
myomesin (Mprotein) 2
(165kD);
myomesin 2; titinassociated protein,
165 kD
9172
603509
protein
coding
26
8p23.2
27802824839736
CSMD1: CUB
and Sushi
multiple domains
1
KIAA1890
64478
608397
protein
coding
27
8p23.2
46322104633674
LOC780813
780813
pseudogene
28
8p23.2
LOC100129861
8p23.2
1001298
61
648237
pseudogene
29
48474574917799
49728464973240
phosphoribosylam
inoimidazole
carboxylase,
phosphoribosylam
inoimidazole
succinocarboxami
de synthetase
pseudogene
hypothetical
LOC100129861
LOC648237
30
8p23.2
LOC392180
similar to SPT3associated factor
42
392180
pseudogene
56936275694625
LOC648237
similar to laminin
receptor homolog
LOC392180
similar to
Transcriptional
adaptor 1 (HFI1
homolog, yeast)
like
The giant protein titin, together with its associated proteins, interconnects
the major structure of sarcomeres, the M bands and Z discs. The C-terminal
end of the titin string extends into the M line, where it binds tightly to Mband constituents of apparent molecular masses of 190 kD and 165 kD. The
predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1,
MYOM2 has a unique N-terminal domain followed by 12 repeat domains
with strong homology to either fibronectin type III or immunoglobulin C2
domains. Protein sequence comparisons suggested that the MYOM2 protein
and bovine M protein are identical.
Simple inactivation of CSMD1 may not explain the deletions observed in
oropharyngeal squamous cell carcinoma and may call into question the role
of this gene in head and neck carcinogenesis. BAC microarray-CGH detects
homozygous deletion of CSMD1 in human bladder cancer specimens.
CSMD1 expression is markedly decreased in high stage prostatic
adenocarcinomas
structural constituent of
muscle
striated muscle contraction
striated muscle thick
filament
integral to membrane
membrane
pseudogene
4
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
31
8p23.1
62515296493434
MCPH1:
microcephalin 1
32
8p23.1
64605326462075
LOC100131112
33
8p23.1
64641186553129
LOC100132301
34
8p23.1
63476016408170
ANGPT2:
angiopoietin 2
35
8p23.1
65532866606432
AGPAT5: 1acylglycerol-3phosphate Oacyltransferase 5
(lysophosphatidic
acid
acyltransferase,
epsilon)
36
8p23.1
66534486680447
XKR5: XK, Kell
blood group
complex subunitrelated family,
member
37
8p23.1
66797166680289
LOC730495:
hypothetical
protein
LOC730495
BRIT1,
FLJ12847, MCT:
BRCT-repeat
inhibitor of TERT
expression 1;
microcephalin;
microcephaly,
primary
autosomal
recessive 1
similar to
hCG2002332
79648
1001311
12
protein
coding
hypothetical
protein
LOC100132301
AGPT2, ANG2:
Tie2-ligand;
angiopoietin-2;
angiopoietin-2B;
angiopoietin-2a
1001323
01
unknown
1-AGPAT5,
LPAAT-e,
LPAAT-epsilon:
1-AGP
acyltransferase 5;
1-acyl-snglycerol-3phosphate
acyltransferase
epsilon; 1acylglycerol-3phosphate Oacyltransferase 5;
lysophosphatidic
acid
acyltransferase,
epsilon
UNQ275,
XRG5a, XRG5b:
HARL2754; X
Kell blood group
precursor-related
family, member 5;
XK-related
protein 5a
LOC730495
55326
protein
coding
389610
protein
coding
730495
unknown
285
607117
601922
protein
coding
protein
coding
Microcephalin and ASPM determine the size of the human brain.
Identification of microcephalin, a protein implicated in determining the size
of the human brain, which is mapped to the MCPH1 locus and is mutated in
primary microcephaly. BRIT1 is a crucial DNA damage regulator in the
ATM/ATR pathways and suggest that it functions as a tumor suppressor
gene.
The protein encoded by this gene is an antagonist of angiopoietin 1
(ANGPT1) and endothelial TEK tyrosine kinase (TIE-2, TEK). The
encoded protein disrupts the vascular remodeling ability of ANGPT1 and
may induce endothelial cell apoptosis. Three transcript variants encoding
three different isoforms have been found for this gene. Results describe the
expression of angiopoietin-1, 2 and 4 and Tie-1 and 2 in gastrointestinal
stromal tumors, leiomyomas and schwannomas.
This gene encodes a member of the 1-acylglycerol-3-phosphate Oacyltransferase family. This integral membrane protein converts
lysophosphatidic acid to phosphatidic acid, the second step in de novo
phospholipid biosynthesis.
centrosome
Intracellular
receptor binding
angiogenesis
cell differentiation
multicellular organismal
development
signal transduction
extracellular region
extracellular space
1-acylglycerol-3phosphate Oacyltransferase activity
acyltransferase activity
transferase activity
metabolic process
phospholipid biosynthetic
process
cellular_component
integral to membrane
membrana
Mitochondrion
integral to membrana
Membrana
5
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
38
8p23.1
67155076722939
DEFB1: defensin,
beta 1
BD1, DEFB-1,
DEFB101, HBD1,
MGC51822: betadefensin-1
1672
602056
protein
coding
39
8p23.1
67438106744400
hypothetical
LOC392181
392181
40
8p23.1
67696296771008
LOC392181:
similar to
GM06171p
DEFA6: defensin,
alpha 6, Paneth
cell-specific
DEF6, HD-6:
defensin 6;
defensin, alpha 6
1671
600471
protein
coding
41
8p23.1
67807556783196
DEFA4: defensin,
alpha 4,
corticostatin
DEF4, HNP-4,
HP-4, HP4,
MGC120099,
MGC138296:
corticostatin;
defensin, alpha 4;
defensin, alpha 4,
preproprotein
1669
601157
protein
coding
42
8p23.1
67951766799755
DEFAP1
449491
43
8p23.1
68225746838481
DEFA8P:
defensin, alpha 8
pseudogene
DEFA1: defensin,
alpha 1
DEF1, DEFA2,
HNP-1, HP-1,
MGC138393,
MRS: defensin,
alpha 1, myeloidrelated sequence;
defensin, alpha 2;
myeloid-related
sequence
1667
44
8p23.1
68416986844134
LOC728358:
defensin, alpha 1
alpha-defensin 1
728358
45
8p23.1
68608056863226
DEFA3: defensin,
alpha 3,
DEF3, HNP-3,
HNP3, HP-3:
1668
Defensins form a family of microbicidal and cytotoxic peptides made by
neutrophils. Members of the defensin family are highly similar in protein
sequence. This gene encodes defensin, beta 1, an antimicrobial peptide
implicated in the resistance of epithelial surfaces to microbial colonization.
This gene maps in close proximity to defensin family member, defensin,
alpha 1 and has been implicated in the pathogenesis of cystic fibrosis.
DEFB1 is down-regulated in human prostatic and renal carcinomas.
G-protein coupled receptor
protein signaling pathway
chemotaxis
defense response to
bacterium
innate immune response
extracellular region
Defensins are a family of microbicidal and cytotoxic peptides thought to be
involved in host defense. They are abundant in the granules of neutrophils
and also found in the epithelia of mucosal surfaces such as those of the
intestine, respiratory tract, urinary tract, and vagina. Members of the
defensin family are highly similar in protein sequence and distinguished by
a conserved cysteine motif. Several alpha defensin genes appear to be
clustered on chromosome 8. The protein encoded by this gene, defensin,
alpha 6, is highly expressed in the secretory granules of Paneth cells of the
small intestine, and likely plays a role in host defense of human bowel.
Defensin alpha6 is highly expressed in colon cancer cell lines
Defensins are a family of microbicidal and cytotoxic peptides thought to be
involved in host defense. They are abundant in the granules of neutrophils
and also found in the epithelia of mucosal surfaces such as those of the
intestine, respiratory tract, urinary tract, and vagina. Members of the
defensin family are highly similar in protein sequence and distinguished by
a conserved cysteine motif. Several alpha defensin genes are clustered on
chromosome 8. This gene differs from other genes of this family by an extra
83-base segment that is apparently the result of a recent duplication within
the coding region. The protein encoded by this gene, defensin, alpha 4, is
found in the neutrophils; it exhibits corticostatic activity and inhibits
corticotropin stimulated corticosterone production.
defense response to
bacterium
defense response to fungus
xenobiotic metabolic
process
extracellular region
defense response to
bacterium
defense response to fungus
xenobiotic metabolic
process
extracellular region
Defensins are a family of microbicidal and cytotoxic peptides thought to be
involved in host defense. They are abundant in the granules of neutrophils
and also found in the epithelia of mucosal surfaces such as those of the
intestine, respiratory tract, urinary tract, and vagina. Members of the
defensin family are highly similar in protein sequence and distinguished by
a conserved cysteine motif. Several alpha defensin genes appear to be
clustered on chromosome 8. The protein encoded by this gene, defensin,
alpha 1, is found in the microbicidal granules of neutrophils and likely plays
a role in phagocyte-mediated host defense. It differs from defensin, alpha 3
by only one amino acid. Alpha-defensins 1-3 levels are nonspecifically
elevated in stools from patients with colorectal neoplasia and likely
originate from white blood cells. Alpha-defensins 1-3 in stool might serve
as markers of inflammatory bowel conditions.
chemotaxis
defense response to
bacterium
defense response to fungus
immune response
response to virus
xenobiotic metabolic
process
extracellular region
Defensins are a family of microbicidal and cytotoxic peptides thought to be
involved in host defense. They are abundant in the granules of neutrophils
defense response to
bacterium
extracellular region
pseudogene
calcium channel
regulator activity
pseudogene
125220
protein
coding
protein
coding
604522
protein
coding
6
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
46
8p23.1
68741506874463
47
8p23.1
69002396901669
48
8p23.1
69279036970663
49
8p23.1
69580526958805
50
8p23.1
51
8p23.1
70666377067398
70725167073541
52
8p23.1
70831187083688
53
8p23.1
70925007083212
neutrophilspecific
defensin 3,
neutrophilspecific; defensin,
alpha 3;
neutrophil peptide
3
DEFA11:
defensin, alpha 11
pseudogene
DEFA5: defensin,
alpha 5, Paneth
cell-specific
DEFAP3
724068
DEF5, HD-5,
MGC129728:
defensin 5;
defensin, alpha 5;
defensin, alpha 5,
preproprotein
1670
LOC648665:
hypothetical
LOC648665
LOC100129712
:hypothetical
LOC100129712
hypothetical
LOC100131970
hypothetical
LOC645627
chromosome 11
open reading
frame2
pseudogene
OR7E125P:
olfactory receptor,
family 7,
subfamily A,
member 125
pseudogene
LOC648665
648665
pseudogene
LOC100129712
1001297
12
pseudogene
LOC100131970
pseudogene
LOC645627
1001319
70
645627
LOC441320
441320
pseudogene
PJCG6
389616
pseudogene
and also found in the epithelia of mucosal surfaces such as those of the
intestine, respiratory tract, urinary tract, and vagina. Members of the
defensin family are highly similar in protein sequence and distinguished by
a conserved cysteine motif. Several alpha defensin genes appear to be
clustered on chromosome 8. The protein encoded by this gene, defensin,
alpha 3, is found in the microbicidal granules of neutrophils and likely plays
a role in phagocyte-mediated host defense. It differs from defensin, alpha 1
by only one amino acid. Alpha-defensins 1-3 levels are nonspecifically
elevated in stools from patients with colorectal neoplasia and likely
originate from white blood cells. Alpha-defensins 1-3 in stool might serve
as markers of inflammatory bowel conditions.
defense response to fungus
xenobiotic metabolic
process
Defensins are a family of microbicidal and cytotoxic peptides thought to be
involved in host defense. They are abundant in the granules of neutrophils
and also found in the epithelia of mucosal surfaces such as those of the
intestine, respiratory tract, urinary tract, and vagina. Members of the
defensin family are highly similar in protein sequence and distinguished by
a conserved cysteine motif. Several of the alpha defensin genes appear to be
clustered on chromosome 8. The protein encoded by this gene, defensin,
alpha 5, is highly expressed in the secretory granules of Paneth cells of the
ileum
defense response to
bacterium
defense response to fungus
xenobiotic metabolic
process
extracellular region
G-protein coupled receptor
protein signaling pathway
signal transduction
integral to membrane
plasma membrana
pseudogene
600472
protein
coding
pseudogene
Olfactory receptors interact with odorant molecules in the nose, to initiate a
neuronal response that triggers the perception of a smell. The olfactory
receptor proteins are members of a large family of G-protein-coupled
receptors (GPCR) arising from single coding-exon genes. Olfactory
receptors share a 7-transmembrane domain structure with many
neurotransmitter and hormone receptors and are responsible for the
recognition and G protein-mediated transduction of odorant signals. The
olfactory receptor gene family is the largest in the genome. The
nomenclature assigned to the olfactory receptor genes and proteins for this
organism is independent of other organisms.
olfactory receptor
activity
receptor activity
7
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
54
8p23.1
70914517092619
OR7E154P:
olfactory receptor,
family 7,
subfamily E,
member 154
pseudogene
55
8p23.1
70985507100784
56
8p23.1
71018367104846
57
8p23.1
71084077106384
58
8p23.1
71094587112468
59
8p23.1
71140067116029
hypothetical
protein
LOC729261
FAM90A15:
family with
sequence
similarity 90,
member A15
Q4G0H1:
hypothetical
LOC349196
FAM90A3:
family with
sequence
similarity 90,
member A3
LOC729270:
hypothetical
protein
LOC729270
60
8p23.1
71171437120645
61
8p23.1
71216287123651
62
8p23.1
71247027127712
63
8p23.1
71292507131273
64
8p23.1
71323247135334
FAM90A4P:
family with
sequence
similarity 90,
member A4
pseudogene
LOC729273
hypothetical
protein
LOC729273
FAM90A13:
family with
sequence
similarity 90,
member A13
LOC729278:
hypothetical
LOC729278
FAM90A5
403296
pseudogene
729261
protein
coding
389630
protein
coding
349196
unknown
389611
unknown
LOC729270
729270
protein
coding
FAM90A4
441313
pseudogene
LOC729273
729273
protein
coding
441314
protein
coding
729278
protein
coding
441315
protein
coding
LOC729261
LOC349196
hypothetical
protein
LOC729278
family with
sequence
similarity 90,
Olfactory receptors interact with odorant molecules in the nose, to initiate a
neuronal response that triggers the perception of a smell. The olfactory
receptor proteins are members of a large family of G-protein-coupled
receptors (GPCR) arising from single coding-exon genes. Olfactory
receptors share a 7-transmembrane domain structure with many
neurotransmitter and hormone receptors and are responsible for the
recognition and G protein-mediated transduction of odorant signals. The
olfactory receptor gene family is the largest in the genome. The
nomenclature assigned to the olfactory receptor genes and proteins for this
organism is independent of other organisms.
8
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
member A5
65
8p23.1
66
8p23.1
71399467142956
67
8p23.1
68
8p23.1
71577777164882
71675787170595
69
8p23.1
71770027178911
70
8p23.1
71817307183639
71
8p23.1
71867587187958
72
8p23.1
71940137230490
73
8p23.1
74
8p23.1
72180767222432
72636667265553
75
8p23.1
76
8p23.1
71368727138895
LOC729284:
hypothetical
LOC729284
FAM90A20:
family with
sequence
similarity 90,
member A20
DEFB109:
defensin, beta 109
LOC10012889:
similar to
hCG1993470
LOC401447:
similar to
ubiquitin-specific
protease 17-like
protein
LOC645402:
similar to
ubiquitin-specific
protease 17-like
protein
LOC402329:
similar to
ubiquitin-specific
protease 17-like
protein
LOC10013198:
similar to zinc
finger protein
705A
LOC100133101
HSPDP3: heat
shock 60kDa
protein 1
(chaperonin)
pseudogene 3
hypothetical
protein
LOC729284
729284
protein
coding
728430
protein
coding
641517
pseudogene
LOC10012889
1001288
9
protein
coding
LOC401447
401447
similar to
deubiquitinating
enzyme 3
defense response to
bacterium
extracellular region
unknown
cysteine-type peptidase
activity
ubiquitin thiolesterase
activity
apoptosis
ubiquitin cycle
ubiquitin-dependent protein
catabolic process
645402
protein
coding
ubiquitin thiolesterase
activity
ubiquitin-dependent protein
catabolic process
similar to
deubiquitinating
enzyme 3
402329
pseudogene
similar to zinc
finger protein
705A
1001319
8
protein
coding
nucleic acid binding
regulation of transcription,
DNA-dependent
Intracellular
similar to betadefensin
HSP60P3
1001331
01
3332
protein
coding
pseudogene
molecular_function
defense response to
bacterium
spermatogenesis
extracellular region
72739017275280
DEFB103A:
defensin, beta
103ª
beta-defensin 3;
defensin, beta
103B; defensin,
beta 3
7292686.7308602
SPAG11: sperm
associated antigen
11B
EP2, EP2C,
EP2D, HE2,
HE2C,
MGC61846,
SPAG11:
55894
60661
protein
coding
10407
606560
protein
coding
Defensins form a family of microbicidal and cytotoxic peptides made by
neutrophils. Members of the defensin family are highly similar in protein
sequence. This gene encodes defensin, beta 103B, which has broad
spectrum antimicrobial activity and may play an important role in innate
epithelial defense. Expression of HBD-3 was detected only in areas adjacent
to squamous cell carcinomas
This gene encodes several androgen-dependent, epididymis-specific
secretory proteins. The specific functions of these proteins have not been
determined, but they are thought to be involved in sperm maturation. Some
of the isoforms contain regions of similarity to beta-defensins, a family of
antimicrobial peptides. The gene is located on chromosome 8p23 near the
nucleus
9
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
epididymal
protein 2; sperm
associated antigen
11
77
8p23.1
73152407320014
DEFB104B:
defensin, beta
104B
503618
protein
coding
78
8p23.1
73274367331319
DEFB106B:
defensin, beta
106B
503841
protein
coding
79
8p23.1
73326537334483
DEFB105B:
defensin, beta
105B
504180
protein
coding
80
8p23.1
73407787354243
DEFB107B:
defensin, beta
107B
503614
protein
coding
81
8p23.1
73845607391754
1001316
0
protein
coding
82
8p23.1
73914157392438
645489
protein
coding
83
8p23.1
73934307396993
LOC10013160:
hypothetical
protein
LOC100131608
LOC645489:
hypothetical
LOC645489
FAM90A6P:
family with
sequence
389618
pseudogene
HsT21816
defensin gene cluster. Alternative splicing of this gene results in seven
transcript variants encoding different isoforms. Two different N-terminal
and five different C-terminal protein sequences are encoded by the splice
variants. Two additional variants have been described, but their full length
sequences have not been determined. HE2 peptides were detected in human
epididymal epithelium, epididymal fluid, and ejaculate
Defensins form a family of microbicidal and cytotoxic peptides made by
neutrophils. Defensins are short, processed peptide molecules that are
classified by structure into three groups: alpha-defensins, beta-defensins and
theta-defensins. All beta-defensin genes are densely clustered in four to five
syntenic chromosomal regions. Chromosome 8p23 contains at least two
copies of the duplicated beta-defensin cluster. This duplication results in
two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in
head-to-head orientation. This gene, DEFB104B, represents the more
telomeric copy.
Defensins form a family of microbicidal and cytotoxic peptides made by
neutrophils. Defensins are short, processed peptide molecules that are
classified by structure into three groups: alpha-defensins, beta-defensins and
theta-defensins. All beta-defensin genes are densely clustered in four to five
syntenic chromosomal regions. Chromosome 8p23 contains at least two
copies of the duplicated beta-defensin cluster. This duplication results in
two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in
head-to-head orientation. This gene, DEFB106B, represents the more
telomeric copy.
Defensins form a family of microbicidal and cytotoxic peptides made by
neutrophils. Defensins are short, processed peptide molecules that are
classified by structure into three groups: alpha-defensins, beta-defensins and
theta-defensins. All beta-defensin genes are densely clustered in four to five
syntenic chromosomal regions. Chromosome 8p23 contains at least two
copies of the duplicated beta-defensin cluster. This duplication results in
two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in
tail-to-tail orientation. This gene, DEFB105B, represents the more telomeric
copy.
Defensins form a family of microbicidal and cytotoxic peptides made by
neutrophils. Defensins are short, processed peptide molecules that are
classified by structure into three groups: alpha-defensins, beta-defensins and
theta-defensins. All beta-defensin genes are densely clustered in four to five
syntenic chromosomal regions. Chromosome 8p23 contains at least two
copies of the duplicated beta-defensin cluster. This duplication results in
two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in
tail-to-tail orientation. This gene, DEFB107B, represents the more telomeric
copy.
defense response to
bacterium
extracellular region
defense response to
bacterium
extracellular region
10
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
84
8p23.1
73990707400093
85
8p23.1
74010707404644
86
8p23.1
74067207407743
87
8p23.1
74091857412392
88
8p23.1
74143667415389
89
8p23.1
74163707419937
90
8p23.1
74220167423038
91
8p23.1
74275847424019
92
8p23.1
74296607430894
93
8p23.1
74368197437987
similarity 90,
member A6
pseudogene
LOC10013264:
hypothetical
protein
LOC100132648
FAM90A7:
family with
sequence
similarity 90,
member A7
LOC10013210:
hypothetical
protein
LOC100132106
FAM90A21P:
family with
sequence
similarity 90,
member A21
pseudogene
LOC729339:
hypothetical
LOC729339
FAM90A22:
family with
sequence
similarity 90,
member A22
LOC10013248:
hypothetical
LOC100132485
FAM90A23:
family with
sequence
similarity 90,
member A23
LOC729346:
hypothetical
LOC729346
OR7E157P:
olfactory receptor,
family 7,
subfamily E,
member 157
pseudogene
1001326
4
protein
coding
441317
protein
coding
1001321
0
protein
coding
619418
pseudogene
729339
protein
coding
645558
pseudogene
LOC100132485
1001324
85
protein
coding
FAM90A23P
645572
pseudogene
hypothetical
protein
LOC729346
729346
protein
coding
family with
sequence
similarity 90,
member A7
hypothetical
protein
LOC729339
FAM90A22P
pseudogene
nucleic acid binding
zinc ion binding
Olfactory receptors interact with odorant molecules in the nose, to initiate a
neuronal response that triggers the perception of a smell. The olfactory
receptor proteins are members of a large family of G-protein-coupled
receptors (GPCR) arising from single coding-exon genes. Olfactory
receptors share a 7-transmembrane domain structure with many
neurotransmitter and hormone receptors and are responsible for the
recognition and G protein-mediated transduction of odorant signals. The
olfactory receptor gene family is the largest in the genome. The
nomenclature assigned to the olfactory receptor genes and proteins for this
organism is independent of other organisms.
11
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
94
8p23.1
74560217456630
95
8p23.1
75752337575841
96
8p23.1
75813477582112
97
8p23.1
76000037602023
98
8p23.1
7602665-7613951
99
8p23.1
76070897609324
100
8p23.1
76149237615946
101
8p23.1
76180237621595
102
8p23.1
103
8p23.1
76256717629243
104
8p23.1
76302197631242
105
8p23.1
76333197636890
106
8p23.1
76378667638889
76225717623594
LOC10013308:
similar to
LOC649305
protein
LOC10013221:
hypothetical
LOC100132212
LOC10013196:
hypothetical
LOC100131967
LOC728731:
similar to
olfactory receptor
873
FAM90A14:
family with
sequence
similarity 90,
member A14
LOC729371:
hypothetical
LOC729371
LOC729372:
hypothetical
LOC729372
FAM90A18:
family with
sequence
similarity 90,
member A18
LOC10013204:
hypothetical
protein
LOC100132048
FAM90A16:
family with
sequence
similarity 90,
member A16
LOC729379:
hypothetical
protein
LOC729379
FAM90A8:
family with
sequence
similarity 90,
member A8
LOC729383:
hypothetical
LOC729383
hypothetical
LOC100133084
1001330
84
pseudogene
LOC100132212
1001322
12
pseudogene
LOC100131967
1001319
67
pseudogene
LOC728731
728731
pseudogene
645651
protein
coding
729371
protein
coding
729372
protein
coding
441326
protein
coding
1001320
48
protein
coding
441323
protein
coding
729379
protein
coding
441324
protein
coding
729383
protein
coding
hypothetical
protein
LOC729371
LOC729372
LOC100132048
hypothetical
LOC729379
hypothetical
protein
LOC729383
nucleic acid binding
zinc ion binding
nucleic acid binding
zinc ion binding
12
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
107
8p23.1
76409667644538
108
8p23.1
76455147646537
109
8p23.1
76486147652186
110
8p23.1
76531627654185
111
8p23.1
76562627659834
112
8p23.1
76606097661834
113
8p23.1
76639097667482
114
8p23.1
76684687669490
115
8p23.1
76711787676345
116
8p23.1
77066527710648
117
8p23.1
77169407718770
FAM90A17:
family with
sequence
similarity 90,
member A17
LOC729387:
hypothetical
LOC729387
FAM90A19:
family with
sequence
similarity 90,
member A19
LOC729394:
hypothetical
LOC729394
FAM90A9:
family with
sequence
similarity 90,
member A9
LOC10013222:
hypothetical
protein
LOC100132221
FAM90A10:
family with
sequence
similarity 90,
member A10
LOC10013309:
hypothetical
protein
LOC100133099
LOC10013325:
hypothetical
protein
LOC100133251
DEFB107A:
defensin, beta
107A
DEFB105A:
defensin, beta
105A
728746
protein
coding
729387
protein
coding
728753
protein
coding
729394
protein
coding
441327
protein
coding
1001322
21
protein
coding
441328
protein
coding
LOC100133099
1001330
99
protein
coding
LOC100133251
1001332
51
protein
coding
BD-7, DEFB-7,
DEFB10: betadefensin 107;
defensin, beta 7
245910
protein
coding
BD-5, DEFB-5,
DEFB10: beta
defensin 5;
defensin, beta 5
245908
protein
coding
hypothetical
protein
LOC729387
hypothetical
protein
LOC729394
LOC100132221
family with
sequence
similarity 90,
member A10
nucleic acid binding
zinc ion binding
zinc ion binding
nucleic acid binding
zinc ion binding
nucleic acid binding
zinc ion binding
Defensins form a family of microbicidal and cytotoxic peptides made by
neutrophils. Defensins are short, processed peptide molecules that are
classified by structure into three groups: alpha-defensins, beta-defensins and
theta-defensins. All beta-defensin genes are densely clustered in four to five
syntenic chromosomal regions. Chromosome 8p23 contains at least two
copies of the duplicated beta-defensin cluster. This duplication results in
two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in
tail-to-tail orientation. This gene, DEFB107A, represents the more
centromeric copy
Defensins form a family of microbicidal and cytotoxic peptides made by
neutrophils. Defensins are short, processed peptide molecules that are
classified by structure into three groups: alpha-defensins, beta-defensins and
theta-defensins. All beta-defensin genes are densely clustered in four to five
syntenic chromosomal regions. Chromosome 8p23 contains at least two
13
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
118
8p23.1
77201047723985
DEFB106A:
defensin, beta
106A
BD-6, DEFB-6,
DEFB106,
MGC118938,
MGC118939,
MGC118940,
MGC118941,
MGC133011,
MGC133012:
defensin, beta 6
245909
protein
coding
119
8p23.1
77314037736174
DEFB104A:
defensin, beta
104A
BD-4, DEFB-4,
DEFB104,
DEFB4,
MGC118942,
MGC118944,
MGC118945,
hBD-4: defensin,
beta 4
140596
protein
coding
120
8p23.1
77428127758729
SPAG11A: sperm
associated antigen
11A
HE2
653423
protein
coding
121
8p23.1
414325
77761367777596
DEFB103B:
defensin, beta
103B
beta-defensin
103B
protein
coding
HSPDP2: heat
shock 60kDa
protein 1
(chaperonin)
pseudogene 2
DEFB4: defensin,
beta 4
HSP60P2
645808
DEFB-2,
DEFB102,
DEFB2, HBD-2,
SAP1: defensin,
beta 2; skinantimicrobial
peptide 1
LOC100132396
1673
122
8p23.1
77859297787630
123
8p23.1
77896097791647
124
8p23.1
78212697856230
LOC10013239:
hypothetical
protein
LOC100132396
1001323
96
copies of the duplicated beta-defensin cluster. This duplication results in
two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in
tail-to-tail orientation. This gene, DEFB105A, represents the more
centromeric copy.
Defensins form a family of microbicidal and cytotoxic peptides made by
neutrophils. Defensins are short, processed peptide molecules that are
classified by structure into three groups: alpha-defensins, beta-defensins and
theta-defensins. All beta-defensin genes are densely clustered in four to five
syntenic chromosomal regions. Chromosome 8p23 contains at least two
copies of the duplicated beta-defensin cluster. This duplication results in
two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in
head-to-head orientation. This gene, DEFB106A, represents the more
centromeric copy. A pilot study with cRNA probes for in situ hybridization
and a synthetic propeptide for the functional characterization demonstrated
the tissue-/cell-specific expression and the strong antimicrobial activity of
DEFB106.
Defensins form a family of microbicidal and cytotoxic peptides made by
neutrophils. Defensins are short, processed peptide molecules that are
classified by structure into three groups: alpha-defensins, beta-defensins and
theta-defensins. All beta-defensin genes are densely clustered in four to five
syntenic chromosomal regions. Chromosome 8p23 contains at least two
copies of the duplicated beta-defensin cluster. This duplication results in
two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in
head-to-head orientation. This gene, DEFB104A, represents the more
centromeric copy.
defense response to
bacterium
extracellular region
defense response to
bacterium
defense response to
bacterium
positive regulation of
biosynthetic process of
antibacterial peptides active
1against Gram-positive
bacteria
extracellular region
extracellular region
pseudogene
602215
protein
coding
Defensins form a family of microbicidal and cytotoxic peptides made by
neutrophils. Members of the defensin family are highly similar in protein
sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is
locally regulated by inflammation. HBD-2 may lead to the death of normal
keratinocytes adjacent to the squamous cell carcinomas, which might, in
turn, indirectly assist in the multiplication of tumor cells. High
concentration in oral squamous cell carcinoma
G-protein coupled receptor
protein signaling pathway
chemotaxis
defense response to
bacterium
immune response
extracellular region
protein
coding
14
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
125
8p23.1
78290967832288
126
8p23.1
78499427850793
127
8p23.1
78622767863476
128
8p23.1
78713257873234
129
8p23.1
78738427882656
130
8p23.1
79067227910283
131
8p23.1
79123597913382
132
8p23.1
79179297914363
133
8p23.1
79200057921028
134
8p23.1
79255787922568
135
8p23.1
79276527928886
136
8p23.1
79348117935979
DEFB108P1:
defensin, beta
108, pseudogene
1
LOC10013210:
similar to
hCG1990697
LOC392187:
similar to
ubiquitin-specific
protease 17-like
protein
LOC645836:
similar to
ubiquitin-specific
protease 17-like
protein
LOC10013282:
similar to
hCG1993470
FAM90A11:
family with
sequence
similarity 90,
member A11
LOC729456:
hypothetical
LOC729456
FAM90A24:
family with
sequence
similarity 90,
member A24
LOC729459:
hypothetical
protein
LOC729459
FAM90A12:
family with
sequence
similarity 90,
member A12
LOC729462:
hypothetical
protein
LOC729462
OR7E96P:
olfactory receptor,
family 7,
subfamily E,
member 96
pseudogene
DEFB-8;
DEFB108;
DEFB108A
503694
pseudogene
LOC100132103
1001321
03
protein
coding
LOC392187
392187
pseudogene
LOC645836
645836
protein
coding
LOC100132828
1001328
28
protein
coding
FAM90A11P
441331
pseudogene
LOC729456
729456
protein
coding
FAM90A24P
441332
pseudogene
LOC729459
729459
protein
coding
645879
protein
coding
729462
protein
coding
401450
pseudogene
hypothetical
LOC729462
nucleic acid binding
zinc ion binding
Olfactory receptors interact with odorant molecules in the nose, to initiate a
neuronal response that triggers the perception of a smell. The olfactory
receptor proteins are members of a large family of G-protein-coupled
receptors (GPCR) arising from single coding-exon genes. Olfactory
receptors share a 7-transmembrane domain structure with many
neurotransmitter and hormone receptors and are responsible for the
15
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
recognition and G protein-mediated transduction of odorant signals. The
olfactory receptor gene family is the largest in the genome. The
nomenclature assigned to the olfactory receptor genes and proteins for this
organism is independent of other organisms
137
8p23.1
79540087954614
138
8p23.1
79601507960756
139
8p23.1
80835688083741
140
8p23.1
141
8p23.1
81023098139797
81356338136435
142
8p23.1
82126688276667
LOC10013231:
hypothetical
LOC100132313
LOC10013204:
similar to
LOC649305
protein
LOC10013317:
similar to liverrelated low
express protein 1
FLJ10661: similar
to CG7889-PA
LOC10012942:
similar to
hCG1990547
PRAGMIN:
homolog of rat
pragma of Rnd2
hypothetical
LOC100132313
1001323
13
pseudogene
hypothetical
LOC100132046
1001320
46
pseudogene
LRLE1
1001331
7
protein
coding
286042
unknown
1001294
2
protein
coding
157285
protein
coding
Rnd2 regulates neurite outgrowth by functioning as the RhoA activator
through Pragmin, in contrast to Rnd1 and Rnd3 inhibiting RhoA signaling
hCG_1646163,
CLDNL,
hCG1646163,
2310014B08Rik
FLJ23354,
MASL1: MFHamplified
sequences with
leucine-rich
tandem repeats 1
CLDN23 gene, a candidate tumor suppressor gene implicated in intestinaltype gastric cancer and pancreatic cancer
CLDN23 gene, frequently down-regulated in intestinal-type gastric cancer,
is a novel member of CLAUDIN gene family.
Identified in a human 8p amplicon, this gene is a potential oncogene whose
expression is enhanced in some malignant fibrous histiocytomas (MFH).
The primary structure of its product includes an ATP/GTP-binding site,
three leucine zipper domains, and a leucine-rich tandem repeat, which are
structural or functional elements for interactions among proteins related to
the cell cycle, and which suggest that overexpression might be oncogenic
with respect to MFH
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1
modifiers of hearing loss due to mtDNA mutation A1555G in the 12S
rRNA gene.
143
8p23.1
85970768599027
CLDN23: claudin
23
144
8p23.1
86794098788541
MFHAS1:
malignant fibrous
histiocytoma
amplified
sequence
145
8p23.1
88286388828930
146
8p23.1
88504098890368
147
8p23.1
88978608925899
MRPS18CP2:
mitochondrial
ribosomal protein
S18C pseudogene
2
LOC645960:
similar to
ribosomal protein
L10
THEX1: three
prime histone
mRNA
exonuclease 1
LOC10012942
DKFZp761P0423
609203
137075
protein
coding
9258
605352
protein
coding
286043
pseudogene
gen
hypothetical
protein
LOC645960
645960
protein
coding
3'HEXO,
MGC35395: 3'
exoribonuclease;
3'-5' exonuclease
ERI1; Eri-1
homolog; histone
90459
protein
coding
Annotation category: partial on reference assembly. 3'hExo is a primary
candidate for the exonuclease that initiates rapid decay of histone mRNA
upon completion and/or inhibition of DNA replication. 3'hExo is a 3'
exonuclease specifically interacting with the 3' end of histone mRNA
ATP binding
non-membrane spanning
protein tyrosine kinase
activity
nucleotide binding
transferase activity
identical protein
inding
structural molecule
activity
GTP binding
Prot
ein binding
protein amino acid
phosphorylation
structural constituent of
ribosome
translation
intracellular
Ribosome
3'-5' exonuclease
activity
RNA binding
hydrolase activity
magnesium ion binding
RNA-mediated gene
silencing
Intracellular
calcium-independent cellcell adhesion
cell junction
integral to membrane
Membrane
tight junction
small GTPase mediated
signal transduction
16
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
mRNA 3' endspecific
exonuclease
148
8p23.1
89609078961295
149
8p23.1
89673798967436
150
8p23.1
90311759045630
151
8p23.1
152
8p23.1
92625389262825
94508559677266
153
8p23.1
154
8p23.1
155
8p23.1
156
LOC1001284:
hypothetical
LOC1001284727
2
RNU7P4: RNA,
U7 small nuclear
pseudogene 4
PPP1R3B: protein
phosphatase 1,
regulatory
(inhibitor) subunit
3B
LOC10012915:
similar to LP5624
TNKS: tankyrase,
TRF1-interacting
ankyrin-related
ADP-ribose
polymerase
20746292074533
22363332236249
994923610323805
MIRN597:
microRNA 597
MIRN124A1:
microRNA 124A1
MSRA:
methionine
sulfoxide
reductase A
8p23.1
1022975510232597
157
8p23.1
1039124610442499
LOC10012899:
hypothetical
LOC100128999
LOC346702:
similar to
hCG1643218
158
8p23.1
1042049110433738
UNQ9391:
tryptophan/serine
1001284
protein
coding
U7; U7.55;
RNU7P4;
HSU7.36;
HSU7.55
FLJ14005,
FLJ34675, GL,
PPP1R4
6075
pseudogene
LP5624
1001291
50
8658
PARP-5a,
PARP5A,
PARPL, TIN1,
TINF1, TNKS1
cytosolic
methionine-Ssulfoxide
reductase; peptide
met (O) reductase
similar to Plasma
kallikrein
precursor (Plasma
prekallikrein)
(Kininogenin)
(Fletcher factor)
hypothetical
protein
79660
610541
603303
protein
coding
protein
coding
protein
coding
Results suggest that in cultured human myotubes, glycogen-targeting PP1
(protein phosphatase 1) subunit G(L) (coded for by the PPP1R3B gene) is
expressed as in muscle tissue and is unresponsive to glucose or insulin, as
are G(M) and PTG genes.
Tankyrase1 is a poly(ADP-ribose) polymerase with roles in telomere length
control by the TRF1 component of the shelterin complex. The role of TNKS
in the poly(ADP-ribosyl)ation of the mitotic spindle apparatus is reported.
Tankyrase 1 interacts with Mcl-1 proteins and inhibits their regulation of
apoptosis
693182
miscRNA
Annotation category: not annotated on reference assembly
406907
miscRNA
Annotation category: not annotated on reference assembly
protein
coding
This protein is ubiquitous and highly conserved. It carries out the enzymatic
reduction of methionine sulfoxide to methionine. Human and animal studies
have shown the highest levels of expression in kidney and nervous tissue.
Its proposed function is the repair of oxidative damage to proteins to restore
biological activity. MSRA gene on chromosome 8p might possess
metastasis suppressor activity in HCC. MsrA may play an important role in
cellular defenses against oxidative stress and in protection against death by
limiting the accumulation of oxidative damage to proteins
4482
601250
NAD+ ADPribosyltransferase
activity
protein bindimg
transferase activity,
transferring glycosyl
groups
intracellular protein
transport across a
membrane
mRNA transport
peptidyl-serine
phosphorylation
peptidyl-threonine
phosphorylation
protein transport
telomere maintenance via
telomerase
oxidoreductase activity
oxidoreductase activity,
acting on sulfur group of
donors, disulfide as
acceptor
peptide-methionine-(S)S-oxide reductase
activity
methionine metabolic
process
protein metabolic process
protein modification
process
response to oxidative stress
1001289
99
protein
coding
346702
protein
coding
catalytic activity
serine-type
endopeptidase activity
proteolysis
203074
protein
coding
catalytic activity
peptidase activity
proteolysis
Golgi apparatus
Golgi membrane
Chromosome
chromosome, telomeric
region
cytoplasm
membrane
nuclear pore
nucleus
integral to membrane
Membrana
17
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
protease
LOC203074
serine-type
endopeptidase activity
159
8p23.1
1050126910550027
RP1L1: retinitis
pigmentosa 1-like
1
DCDC4B
94137
160
8p23.1
1025980110338697
PP13296;
MGC74631;
DKFZp686E039
161
8p23.1
1056755710595513
162
8p23.1
1061868810625432
LARP4: La
ribonucleoprotein
domain family,
member 4
C8orf74:
chromosome 8
open reading
frame 74
SOX7: SRY (sex
determining
region Y)-box 7
163
8p23.1
1066029410734709
PINX1: PIN2interacting protein
1
164
8p23.1
1079106411096285
XKR6: XK, Kell
blood group
complex subunitrelated family,
member 6
165
8p23.1
166
8p23.1
1093012610930222
1100213211003386
167
8p23.1
1101829211019012
168
8p23.1
1102515511021390
169
8p23.1
1115093911151585
MIRN598:
microRNA 598
LOC10012944:
hypothetical
protein
LOC100129441
C8orf15:
chromosome 8
open reading
frame 15
C8orf16:
chromosome 8
open reading
frame 16
LOC392193:
hypothetical
LOC392193
608581
protein
coding
The RP1L1 gene is a novel candidate for retinal degenerations and encodes
a large, highly polymorphic, retinal-specific protein.
113251
protein
coding
The c-MPL protein altered expression provide an opportunity to diagnose
and identify subpopulations of MPD patients.
RNA binding
hypothetical
protein
LOC203076
203076
protein
coding
MGC10895:
SOX7
transcription
factor; SRY-box 7
83595
protein
coding
transcription factor
activity
regulation of transcription
from RNA polymerase II
promoter
transcription
Nucleus
FLJ20565, LPTL,
LPTS, MGC8850:
67-11-3 protein;
hepatocellular
carcinoma-related
putative tumor
suppressor
C8orf21, C8orf7,
XRG6: X Kell
blood group
precursor-related
family, member 6;
XK-related
protein 6
54984
This gene encodes a member of the SOX (SRY-related HMG-box) family
of transcription factors involved in the regulation of embryonic
development and in the determination of the cell fate. The encoded protein
may act as a transcriptional regulator after forming a protein complex with
other proteins. The protein may play a role in tumorigenesis. A similar
protein in mice is involved in the regulation of the wingless-type MMTV
integration site family (Wnt) pathway.
LOH of PINX1 locus associated with reduced expression of PINX1 in
gastric cancer. Over-expression of LPTS-L can induce hepatoma cells into
crisis due to the reduction of telomerase activity. Data show that liverrelated putative tumor suppressor gene (LPTS) mutations occur in
hepatocellular carcinoma but are infrequent and of little effect on the
telomerase inhibitory function of the protein.
molecular_function
nucleic acid binding
protein bindimg
cell cycle
negative regulation of cell
cycle
negative regulation of cell
proliferation
telomere maintenance via
telomerase
cellular_component
chromosome
chromosome, telomeric
region
intracellular
nucleolus
Nucleus
integral to membrane
Membrana
606505
protein
coding
286046
protein
coding
693183
miscRNA
1001294
4
protein
coding
439940
unknown
83735
unknown
392193
pseudogene
intracellular signaling
cascade
response to stimulus
visual perception
nucleic acid binding
Annotation category: not annotated on reference assembly
18
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
170
8p23.1
1117998911178400
Q96KT8:
hypothetical
protein C8orf9
MTMR9:
myotubularin
related protein 9
171
8p23.1
1117941011223065
172
8p23.1
1122590511227105
173
8p23.1
1123455611263371
174
8p23.1
1124088711242975
175
8p23.1
1126332111333577
176
8p23.1
1131638211361663
177
8p23.1
1138893011459517
BLK: B lymphoid
tyrosine kinase
178
8p23.1
1145338411454938
LOC10012872:
hypothetical
AMAC1L2: acylmalonyl
condensing
enzyme 1-like 2
TDH: L-threonine
dehydrogenase
LOC10012912:
hypothetical
protein
LOC100129129
C8orf12:
chromosome 8
open reading
frame 12
C8orf13:
chromosome 8
open reading
frame 13
LOC157740
157740
C8orf9,
DKFZp434K171,
LIP-STYX,
MGC126672,
MTMR8:
myotubularin
related protein 8;
myotubularinrelated protein 9
AMAC, acylmalonyl
condensing
enzyme
FLJ25033
66036
D8S265,
DKFZp761G151,
MGC120649,
MGC120650,
MGC120651:
hypothetical
protein
LOC83648
MGC10442
unknown
protein
coding
This gene encodes a myotubularin-related protein that is atypical to most
other members of the myotubularin-related protein family because it has no
dual-specificity phosphatase domain. The encoded protein contains a
double-helical motif similar to the SET interaction domain, which is
thought to have a role in the control of cell proliferation. In mouse, a protein
similar to the encoded protein binds with MTMR7, and together they
dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3bisphosphate.
83650
protein
coding
This gene seems to be intronless. It has high sequence similarity to the gene
encoding acyl-malonyl condensing enzyme on chromosome 17.
157739
pseudogene
This gene appears to be an evolving pseudogene of L-threonine 3dehydrogenase (TDH). In both prokaryotes and eukaryotes, TDH catalyzes
the first of two steps in one of two L-threonine degradation pathways.
However, in human, the single gene with sequence similarity to TDH is not
capable of encoding a functional TDH protein; the predicted protein lacks
most of the C-terminus and parts of the NAD+ binding motif when
compared to other species' TDH proteins. This suggests that the human
gene is therefore a pseudogene. Transcripts of this gene are found in all
tissues and alternatively spliced transcripts have been described. It is not
known if these transcripts are translated, or if the possible protein product
provides any functional role.
binding
catalytic activity
coenzyme binding
cellular metabolic process
1001291
29
protein
coding
83656
unknown
83648
protein
coding
Association of systemic lupus erythematosus with C8orf13-BLK and
ITGAM-ITGAX.
ATP binding
non-membrane spanning
protein tyrosine kinase
activity
nucleotide binding
protein bindimg
transferase activity
protein amino acid
phosphorylation
protein kinase cascade
640
1001287
28
606260
191305
protein
coding
enzyme regulator
activity
inositol or
phosphatidylinositol
phosphatase activity
protein bindimg
phospholipid
dephosphorylation
integral to membrana
membrana
Mitochondrion
protein
coding
19
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
181
8p23.1
1159916211654918
protein
LOC100128728
LOC10013135:
hypothetical
protein
LOC100131351
AMAC1L1: acylmalonyl
condensing
enzyme 1-like 1
GATA4: GATA
binding protein 4
182
8p23.1
1166466611682263
183
8p23.1
1168429511685679
184
8p23.1
11656174..
11657024
185
8p23.1
1169759911734227
186
8p23.1
1173744211763055
179
8p23.1
1157179111595690
180
8p23.1
1159947411600674
1001313
51
protein
coding
646000
protein
coding
membrane
MGC126629:
GATA-binding
protein 4
2626
600576
protein
coding
NEIL2: nei like 2
(E. coli)
FLJ31644,
MGC2832,
MGC4505,
NEH2: nei-like 2
252969
608933
protein
coding
SUB1P1: SUB1
homolog (S.
cerevisiae)
pseudogene 1
C8orf49:
chromosome 8
open reading
frame 49
FDFT1: farnesyldiphosphate
farnesyltransferas
e1
hypothetical
protein
LOC100128728
1001287
28
protein
coding
FLJ30972
606553
unknown
DGPT, ERG9,
SQS, SS:
FPP:FPP
farnesyltransferas
e; presqualene-didiphosphate
synthase;
squalene synthase
APPS, CPSB:
APP secretase;
amyloid precursor
protein secretase;
2222
184420
protein
coding
This gene encodes a membrane-associated enzyme located at a branch point
in the mevalonate pathway. The encoded protein is the first specific enzyme
in cholesterol biosynthesis, catalyzing the dimerization of two molecules of
farnesyl diphosphate in a two-step reaction to form squalene. In prostate
cancer cells SQS expression is enhanced by androgens, channeling
intermediates of the mevalonate/isoprenoid pathway toward cholesterol
synthesis
farnesyl-diphosphate
farnesyltransferase
activity
magnesium ion binding
oxidoreductase activity
protein bindimg
transferase activity
cholesterol biosynthetic
process
isoprenoid biosynthetic
process
endoplasmic reticulum
endoplasmic reticulum
membrane
integral to membrane
membrane
1508
116810
protein
coding
The protein encoded by this gene is a lysosomal cysteine proteinase
composed of a dimer of disulfide-linked heavy and light chains, both
produced from a single protein precursor. It is also known as amyloid
precursor protein secretase and is involved in the proteolytic processing of
cathepsin B activity
cysteine-type
endopeptidase activity
kininogen binding
proteolysis
regulation of apoptosis
regulation of catalytic
activity
apical plasma
membrane
external side of plasma
membrane
CTSB: cathepsin
B
This gene encodes a member of the GATA family of zinc-finger
transcription factors. Members of this family recognize the GATA motif
which is present in the promoters of many genes. This protein is thought to
regulate genes involved in embryogenesis and in myocardial differentiation
and function. Mutations in this gene have been associated with cardiac
septal defects. 4 missense sequence variants (Gly93Ala, Gln316Glu,
Ala411Val, Asp425Asn) occurred in patients with cardiac septal defects. 2
led to polarity changes. Non-synonymous GATA4 sequence variants
sometimes occur in septal defects & rarely in conotruncal defects. Tbx18
interacts with Gata4 and Nkx2-5 and competes Tbx5-mediated activation of
the cardiac Natriuretic peptide precursor type a-promoter. Tbx18 downregulates Tbx6-activated Delta-like 1 expression in the somitic mesoderm in
vivo. Hypermethylation of the GATA4 is associated with lung cancer.
NEIL2 belongs to a class of DNA glycosylases homologous to the bacterial
Fpg/Nei family. These glycosylases initiate the first step in base excision
repair by cleaving bases damaged by reactive oxygen species and
introducing a DNA strand break via the associated lyase reaction. A novel
missense variant C367A and several other mutations were found in familial
colorectal cancer DNA suggesting a limited role for this gene in the
devlopment of CRC.
DNA binding
RNA polymerase II
transcription factor
activity
metal ion binding
protein bindimg
sequence-specific DNA
binding
transcription activator
activity
transcription factor
activity
zinc ion binding
damaged DNA binding
hydrolase activity,
acting on glycosyl bonds
lyase activity
metal ion binding
oxidized purine base
lesion DNA Nglycosylase activity
zinc ion binding
heart development
multicellular organismal
development
positive regulation of
transcription
positive regulation of
transcription, DNAdependent
regulation of transcription,
DNA-dependent
transcription
transcription from RNA
polymerase II promoter
base-excision repair
metabolic process
nucleotide-excision repair
Nucleus
Nucleus
integral to membrane
Membrana
20
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
cathepsin B1;
cysteine protease;
preprocathepsin B
187
8p23.1
1181471411815813
OR7E158P:
olfactory receptor,
family 7,
subfamily E,
member 158
pseudogene
392194
pseudogene
188
8p23.1
1182338611824581
OR7E161P:
olfactory receptor,
family 7,
subfamily E,
member 161
pseudogene
389626
pseudogene
189
8p23.1
613210
8p23.1
DEFB137
613210
191
8p23.1
DEFB137: betadefensin 137
DEFB136: betadefensin 136
DEFB134: betadefensin 134
DEFB136
190
1186885511869517
1187723911879508
1188889811891169
DEFB134;
MGC163333;
MGC163335
613211
protein
coding
protein
coding
protein
coding
192
8p23.1
1189252411929558
OR7E160P:
olfactory receptor,
family 7,
subfamily E,
member 160
pseudogene
402333
pseudogene
193
8p23.1
1193842111944543
1001281
74
protein
coding
194
8p23.1
1195930711966665
1001332
67
protein
coding
195
8p23.1
1198425612010434
LOC10012817:
similar to betadefensin 131
LOC100133267:
similar to betadefensin 130
LOC728957:
similar to zinc
finger protein 75
728957
protein
coding
MGC131746
amyloid precursor protein (APP). Incomplete proteolytic processing of APP
has been suggested to be a causative factor in Alzheimer disease, the most
common cause of dementia. Overexpression of the encoded protein, which
is a member of the peptidase C1 family, has been associated with
esophageal adenocarcinoma and other tumors. At least five transcript
variants encoding the same protein have been found for this gene.
Olfactory receptors interact with odorant molecules in the nose, to initiate a
neuronal response that triggers the perception of a smell. The olfactory
receptor proteins are members of a large family of G-protein-coupled
receptors (GPCR) arising from single coding-exon genes. Olfactory
receptors share a 7-transmembrane domain structure with many
neurotransmitter and hormone receptors and are responsible for the
recognition and G protein-mediated transduction of odorant signals. The
olfactory receptor gene family is the largest in the genome. The
nomenclature assigned to the olfactory receptor genes and proteins for this
organism is independent of other organisms.
Olfactory receptors interact with odorant molecules in the nose, to initiate a
neuronal response that triggers the perception of a smell.The olfactory
receptor proteins are members of a large family of G-protein-coupled
receptors (GPCR) arising from single coding-exon genes. Olfactory
receptors share a 7-transmembrane domain structure with many
neurotransmitter and hormone receptors and are responsible for the
recognition and G protein-mediated transduction of odorant signals. The
olfactory receptor gene family is the largest in the genome. The
nomenclature assigned to the olfactory receptor genes and proteins for this
organism is independent of other organisms.
response to wounding
defense response to
bacterium
defense response to
bacterium
defense response to
bacterium
extracellular region
intracellular
lysosome
melanosome
Mitochondrion
extracellular region
extracellular region
extracellular region
Olfactory receptors interact with odorant molecules in the nose, to initiate a
neuronal response that triggers the perception of a smell. The olfactory
receptor proteins are members of a large family of G-protein-coupled
receptors (GPCR) arising from single coding-exon genes. Olfactory
receptors share a 7-transmembrane domain structure with many
neurotransmitter and hormone receptors and are responsible for the
recognition and G protein-mediated transduction of odorant signals. The
olfactory receptor gene family is the largest in the genome. The
nomenclature assigned to the olfactory receptor genes and proteins for this
organism is independent of other organisms.
Annotation category: spans an assembly gap
21
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
196
8p23.1
1201069512011546
197
8p23.1
1201683612047213
198
8p23.1
1202277612024213
199
8p23.1
1202733512029244
200
8p23.1
1203208612033678
201
8p23.1
1206711712070072
202
8p23.1
1207702212089033
203
8p23.1
1221284312220196
204
8p23.1
1223736512263733
205
8p23.1
1226389412264754
206
8p23.1
1227621312277743
207
8p23.1
1228055212282461
208
8p23.1
1228937412291715
209
8p23.1
12322773-
LOC100133184:
similar to
hCG1990697
LOC100132923:
similar to
hCG1993470
LOC392196:
deubiquitinating
enzyme 3
pseudogene
LOC392197:
similar to
deubiquitinating
enzyme 3
DUB3:
deubiquitinating
enzyme 3
FAM90A2P:
family with
sequence
similarity 90,
member A2
pseudogene
FAM86B1:
family with
sequence
similarity 86,
member B1
DEFB130:
defensin, beta 130
ZNF705C: zinc
finger protein
705C pseudogene
LOC100133172:
similar to
hCG1990697
LOC649346:
similar to
deubiquitinating
enzyme 3 DUB2
LOC649352:
similar to
deubiquitinating
enzyme 3 DUB1
LOC100128995:
hypothetical
protein
LOC100128995
FAM90A25P:
USP17L7
1001331
84
protein
coding
1001329
23
unknown
392196
pseudogene
392197
protein
coding
377630
610186
protein
coding
729689
pseudogene
MGC104828,
MGC16279
85002
protein
coding
DEFB-30: betadefensin 130;
defensin, beta 30
ZNF705C;
MGC131746
245940
protein
coding
389631
pseudogene
1001331
72
protein
coding
DUB2
649346
pseudogene
DUB1
649352
pseudogene
1001289
95
protein
coding
389633
pseudogene
DUB3 is a member of the ubiquitin processing protease (UBP) subfamily of
deubiquitinating enzymes. human DUB-3, like the murine DUB family
members, is transiently induced in response to cytokines and can, when
constitutively expressed, block growth factor-dependent proliferation
ubiquitin thiolesterase
activity
ubiquitin-dependent protein
catabolic process
cysteine-type peptidase
activity
ubiquitin thiolesterase
activity
apoptosis
ubiquitin cycle
ubiquitin-dependent protein
catabolic process
defense response to
bacterium
Nucleus
Nucleus
extracellular region
22
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
12316402
210
8p23.1
1233826212325843
211
8p23.1
1235017112370407
212
8p23.1
1237872812378901
213
8p23.1
1244833312448991
214
8p23.1
1248018612481558
215
8p23.1
1249685012567490
216
8p23.1
1250916312509772
217
8p23.1
1258592012587145
218
8p23.1
1258598212587582
219
8p23.1
1259825012598905
family with
sequence
similarity 90,
member A25
pseudogene
FAM86B2:
family with
sequence
similarity 86,
member B2
LOC646344:
similar to
sphingomyelinase
, intestinal
alkaline
LOC100127885:
similar to liverrelated low
express protein 1
LOC100131718:
hypothetical
LOC100131718
LOC100131581:
hypothetical
LOC100131581
LOC729732:
hypothetical
protein
LOC729732
LOC100132309:
hypothetical
LOC100132309
OR7E8P:
olfactory receptor,
family 7,
subfamily E,
member 8
pseudogene
LOC442381:
similar to Protein
C11orf2 (Another
new gene 2
protein)
OR7E15P:
olfactory receptor,
family 7,
subfamily E,
member 15
Q4KMP3
653333
protein
coding
similar to
hCG2042391
646344
protein
coding
1001278
85
protein
coding
1001317
18
pseudogene
1001315
81
protein
coding
729732
pseudogene
1001323
09
pseudogene
346708
pseudogene
442381
protein
coding
8588
pseudogene
similar to
LOC649305
protein
OR11-11 A
OST001;
OR7E42P;
OR7E80P; OR11392
Olfactory receptors interact with odorant molecules in the nose, to initiate a
neuronal response that triggers the perception of a smell. The olfactory
receptor proteins are members of a large family of G-protein-coupled
receptors (GPCR) arising from single coding-exon genes. Olfactory
receptors share a 7-transmembrane domain structure with many
neurotransmitter and hormone receptors and are responsible for the
recognition and G protein-mediated transduction of odorant signals. The
olfactory receptor gene family is the largest in the genome. The
nomenclature assigned to the olfactory receptor genes and proteins for this
organism is independent of other organisms.
olfactory receptor
activity
receptor activity
G-protein coupled receptor
protein signaling pathway
response to stimulus
sensory perception of
smellsignal transduction
integral to membrane
plasma membrana
Olfactory receptors interact with odorant molecules in the nose, to initiate a
neuronal response that triggers the perception of a smell. The olfactory
receptor proteins are members of a large family of G-protein-coupled
receptors (GPCR) arising from single coding-exon genes. Olfactory
receptors share a 7-transmembrane domain structure with many
23
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
pseudogene
220
8p23.1
1260483212606018
221
8p23.1
222
8p23.1
1262377712657363
223
8p22
1284755412931657
224
8p22
1298524313416766
225
8p22
1346872313470172
226
8p22
1399174415140163
OR7E10P:
olfactory receptor,
family 7,
subfamily E,
member 10
pseudogene
LOC653883:
similar to Zinc
finger protein 90
(Zfp-90) (Zinc
finger protein
NK10)
LONRF1: LON
peptidase Nterminal domain
and ring finger 1
OR11-1
pseudogene
10823
653883
protein
coding
FLJ23749,
RNF191
91694
protein
coding
C8orf79:
chromosome 8
open reading
frame 79
DLC1: deleted in
liver cancer
FLJ36980;
KIAA1456;
MGC43113
57604
protein
coding
HP; ARHGAP7;
STARD12;
FLJ21120; p122RhoGAP
10395
C8orf48:
chromosome 8
open reading
frame 48
SGCZ:
sarcoglycan zeta
FLJ25402
157773
MGC149397,
ZSG1: zetasarcoglycan
137868
604258
protein
coding
neurotransmitter and hormone receptors and are responsible for the
recognition and G protein-mediated transduction of odorant signals. The
olfactory receptor gene family is the largest in the genome. The
nomenclature assigned to the olfactory receptor genes and proteins for this
organism is independent of other organisms.
Olfactory receptors interact with odorant molecules in the nose, to initiate a
neuronal response that triggers the perception of a smell. The olfactory
receptor proteins are members of a large family of G-protein-coupled
receptors (GPCR) arising from single coding-exon genes. Olfactory
receptors share a 7-transmembrane domain structure with many
neurotransmitter and hormone receptors and are responsible for the
recognition and G protein-mediated transduction of odorant signals. The
olfactory receptor gene family is the largest in the genome. The
nomenclature assigned to the olfactory receptor genes and proteins for this
organism is independent of other organisms.
Annotation category: not annotated on reference assembly
ATP-dependent
peptidase activity
metal ion binding
protein bindimg
zinc ion binding
methyltransferase
activity
transferase activity
ATP-dependent proteolysis
This gene is deleted in the primary tumor of hepatocellular carcinoma. It is
suggested that this gene is a candidate tumor suppressor gene for human
liver cancer, as well as for prostate, lung, colorectal, and breast cancers.
Alternative splicing at this locus results in several transcript variants
encoding different isoforms.
GTPase activator
activity
Rho GTPase activator
activity
Protein bindimg
cytoskeleton organization
Cytoplasm
and biogenesis
TAS Intracellular
PubMed
negative regulation of cell
growth
NAS
PubMed
regulation of cell adhesion
signal transduction
This protein is part of the sarcoglycan complex, a group of 6 proteins. The
sarcoglycans are all N-glycosylated transmembrane proteins with a short
intra-cellular domain, a single transmembrane region and a large extracellular domain containing a carboxyl-terminal cluster with several
conserved cysteine residues. The sarcoglycan complex is part of the
dystrophin-associated glycoprotein complex (DGC), which bridges the
inner cytoskeleton and the extra-cellular matrix.
Protein bindimg
cytoskeleton organization
and biogenesis
metabolic process
unknown
608113
protein
coding
cytoplasm
cytoskeleton
integral to membrane
plasma membrane
sarcoglycan complex
24
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
227
8p22
1421090614212368
228
8p22
229
8p22
1475531814755390
1544210115666366
230
8p22
1559079015591440
231
8p22
1570778115709283
232
8p22
1584494815845412
233
8p22
1600976116094595
234
8p22
1617757816178181
235
8p22
1627649916276966
LOC100131565:
similar to
Eukaryotic
translation
initiation factor
4E
MIRN383:
microRNA 383
TUSC3: tumor
suppressor
candidate 3
LOC100129568:h
ypothetical
LOC100129568
LOC137012:
protein
phosphatase 1A
pseudogene
LOC646433:
ribosomal protein
L32-like
pseudogene
MSR1:
macrophage
scavenger
receptor 1
LOC646440:
similar to
chaperonin
containing TCP1,
subunit 3
(gamma)
MRPL49P2:
mitochondrial
ribosomal protein
L49 pseudogene 2
1001315
65
pseudogene
hsa-mir-383
494332
miscRNA
D8S1992,
MGC13453, N33,
OST3A: Putative
prostate cancer
tumor suppressor
7991
similar to clathrin
light-chain A
0012956
8
601385
CD204,
SCARA1, SR-A,
phSR1, phSR2
macrophage
acetylated LDL
receptor I and II;
macrophage
scavenger
receptor type III;
scavenger
receptor class A,
member 1
similar to matricin
mitochondrial
ribosomal protein
L49 pseudogene 2
contributes_to dolichyldiphosphooligosaccharid
e-protein
glycotransferase activity
protein amino acid N-linked
glycosylation via
asparagine
endoplasmic reticulum
integral to membrane
membrane
oligosaccharyl
transferase complex
This gene encodes the class A macrophage scavenger receptors, which
include three different types (1, 2, 3) generated by alternative splicing of
this gene. These receptors or isoforms are macrophage-specific trimeric
integral membrane glycoproteins and have been implicated in many
macrophage-associated physiological and pathological processes including
atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1
and type 2 are functional receptors and are able to mediate the endocytosis
of modified low density lipoproteins (LDLs). The isoform type 3 does not
internalize modified LDL (acetyl-LDL) despite having the domain shown to
mediate this function in the types 1 and 2 isoforms. It has an altered
intracellular processing and is trapped within the endoplasmic reticulum,
making it unable to perform endocytosis. The isoform type 3 can inhibit the
function of isoforms type 1 and type 2 when co-expressed, indicating a
dominant negative effect and suggesting a mechanism for regulation of
scavenger receptor activity in macrophages.
lipid transporter activity
receptor activity
phosphate transport
receptor-mediated
endocytosis
Cytoplasm
integral to plasma
membrane
pseudogene
pseudogene
646433
4481
This gene is a candidate tumor suppressor gene. It is located within a
homozygously deleted region of a metastatic prostate cancer. The gene is
expressed in most nonlymphoid human tissues including prostate, lung,
liver, and colon. Expression was also detected in many epithelial tumor cell
lines. Two transcript variants encoding distinct isoforms have been
identified for this gene.
pseudogene
137012
hCG_1794003
protein
coding
153622
protein
coding
646440
pseudogene
346711
pseudogene
25
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
236
8p22
1689470516904045
FGF20 :fibroblast
growth factor 20
26281
605558
protein
coding
237
8p22
1692911917024518
EFHA2: EF-hand
domain family,
member A2
238
8p22
DKFZp313A0139
, EF hand domain
family A2; EF
hand domain
family, member
A2
similar to
mCG50795
286097
610633
Protein
coding
1001303
92
pseudogene
239
8p22
1705840217124612
ZNF372 rec; zinc
finger, DHHC
domain
containing 2
51201
Protein
coding
240
8p22
1713111117148758
CNOT7: CCR4NOT transcription
complex, subunit
7
CAF1, hCAF-1,
BTG1 binding
factor 1; carbon
catabolite
repressor protein
(CCR4)associative factor
1
29883
604913
Protein
coding
The protein encoded by this gene binds to an anti-proliferative protein, Bcell translocation protein 1, which negatively regulates cell proliferation.
Binding of the two proteins, which is driven by phosphorylation of the antiproliferative protein, causes signaling events in cell division that lead to
changes in cell proliferation associated with cell-cell contact. The protein
has both mouse and yeast orthologs. Alternate splicing of this gene results
in two transcript variants encoding different isoforms.
241
8p22
1714885117197418
VPS37A:vacuolar
protein sorting 37
homolog A (S.
cerevisiae))
137492
609927
Protein
coding
HCRP1 is a subunit of mammalian ESCRT-I, and its function is essential
for lysosomal sorting of EGF receptors. Results strongly suggest that
HCRP1 might be a growth inhibitory protein and associated with decreasing
the invasion of HCC cells
8p22
1719991017315207
MTMR7:
myotubularin
related protein 7
FLJ32642,
FLJ42616,
HCRP1,
hepatocellular
carcinoma related
protein 1;
vacuolar protein
sorting 37A
DKFZp781E194,
MGC163449,
MGC163451
242
9108
603562
Protein
coding
243
8p22
1733370217373392
LOC646479:
similar to ADAM
29 precursor (A
disintegrin and
metalloproteinase
domain 29)
similar to
mCG50795
1001303
92
1705218117052768
LOC100130392:
hypothetical
LOC100130392
ZDHHC2: zinc
finger, DHHCtype containing 2
The protein encoded by this gene is a member of the fibroblast growth
factor (FGF) family. FGF family members possess broad mitogenic and cell
survival activities, and are involved in a variety of biological processes
including embryonic development cell growth, morphogenesis, tissue
repair, tumor growth and invasion. This gene was shown to be expressed in
normal brain, particularly the cerebellum. The rat homolog is preferentially
expressed in the brain and able to enhance the survival of midbrain
dopaminergic neurons in vitro.
growth factor activity
cell growth
cell-cell signaling
signal transduction
calcium ion binding
metal ion binding
palmitoyltransferase
activity
transferase activity
zinc ion binding
nucleic acid binding
protein bindimg
signal transducer
activity
transcription activator
activity
transcription factor
activity
hydrolase activity
inositol or
phosphatidylinositol
phosphatase activity
protein tyrosine
phosphatase activity
extracellular region
soluble fraction
integral to membrane
membrane
protein palmitoylation
integral to membrane
membrane
carbohydrate metabolic
process
positive regulation of
transcription from RNA
polymerase II promoter
regulation of transcription,
DNA-dependent
signal transduction
transcription
protein transport
CCR4-NOT complex
nucleus
Cytoplasm, Endosome,
late endosome
membrane,
membrane,
nucleus
phospholipid
dephosphorylation
protein amino acid
dephosphorylation
pseudogene
26
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
244
8p22
1744068517472300
SLC7A2: solute
carrier family 7
(cationic amino
acid transporter,
y+ system),
member 2)
245
8p22
1747898617544903
PDGFRL:
platelet-derived
growth factor
receptor-like
246
8p22
1754558317702666
MTUS1:
mitochondrial
tumor suppressor
1
247
8p22
1776618017797327
FGL1: fibrinogenlike 1
248
8p22
1782477917929764
PCM1 :
pericentriolar
material 1
ATRC2, CAT-2,
HCAT2, amino
acid transporter,
cationic 2;
cationic amino
acid transporter,
y+ system; lowaffinity cationic
amino acid
transporter-2;
solute carrier
family 7, member
2
PDGRL, PRLTS,
platelet-derived
growth factor
receptor-like
protein; plateletderived growth
factor-beta-like
tumor suppressor
ATIP,
DKFZp586D15,
DZp686F20243,
FLJ14295,
KIAA1288,
MP44, MTSG1,
AT2 receptorinteracting
protein; erythroid
differentiationrelated;
mitochondrial
tumor suppressor
gene 1;
transcription
factor MTSG1
HFREP1, HP041, LFIRE1,
MGC12455,
hepassocin;
hepatocellular
carcinoma-related
sequence;
hepatocytederived
fibrinogen-related
protein 1
PTC4
6542
601872
Protein
coding
Keratinocytes express cationic amino acid transporters 1 and 2. Cationic
amino acid transporter mediated L-arginine essential for inducible nitric
oxide synthase and arginase enzyme, which modulate proliferation and
differentiation of epidermal cells.Insulin increased L-arginine transport and
the mRNA levels for hCAT-1 and hCAT-2B
L-amino acid
transmembrane
transporter activity
basic amino acid
transmembrane
transporter activity
L-amino acid transport
amino acid metabolic
process
transport
integral to plasma
membrane
membrane
membrane fraction
5157
604584
Protein
coding
This gene encodes a protein with significant sequence similarity to the
ligand binding domain of platelet-derived growth factor receptor beta.
Mutations in this gene, or deletion of a chromosomal segment containing
this gene, are associated with sporadic hepatocellular carcinomas, colorectal
cancers, and non-small cell lung cancers. This suggests this gene product
may function as a tumor suppressor.
platelet activating factor
receptor activity
platelet-derived growth
factor beta-receptor
activity
biological_process
extracellular region
57509
609589
Protein
coding
This gene encodes a protein which contains a C-terminal domain able to
interact with the angiotension II (AT2) receptor and a large coiled-coil
region allowing dimerization. Multiple alternatively spliced transcript
variants encoding different isoforms have been found for this gene. One of
the transcript variants has been shown to encode a mitochondrial protein
that acts as a tumor suppressor and partcipates in AT2 signaling pathways.
Other variants may encode nuclear or transmembrane proteins but it has not
been determined whether they also participate in AT2 signaling pathways.
cell cycle
negative regulation of cell
cycle
Golgi apparatus
Mitochondrion
nucleus
plasma membrane
2267
605776
Protein
coding
This protein is homologous to the carboxy terminus of the fibrinogen betaand gamma- subunits which contains the four conserved cysteines of
fibrinogens and fibrinogen related proteins. However, it lacks the plateletbinding site, cross-linking region and a thrombin-sensitive site which are
necessary for fibrin clot formation. It may play a role in the development of
hepatocellular carcinomas. Four alternatively spliced transcript variants
encoding the same protein exist for this gene.
receptor binding
signal transduction
extracellular region
fibrinogen complex
5108
600299
Protein
coding
Multiple processes involved in regulating the abundance of NIMA (never in
mitosis gene a)-related kinase 2 kinase at the centrosome including
microtubule binding, the centriolar satellite component PCM-1, and
localized protein degradation. A genetic translocation in atypical chronic
protein bindimg
cytoplasm
cytoskeleton
pericentriolar material
27
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
249
8p22
1795822117986757
250
8p22
251
8p22
1799018117995697
252
8p22
1811189518125100
253
8p22
1827149918273867
254
8p22
1828504918285707
255
8p22
1829303518302962
1798866217988890
ASAH1 (Nacylsphingosine
amidohydrolase
(acid ceramidase)
1)
MRPS18CP3:
mitochondrial
ribosomal protein
S18C pseudogene
3
LOC100133073:
hypothetical
LOC100133073
NAT1: Nacetyltransferase
1 (arylamine Nacetyltransferase)
AACP: arylamide
acetylase
pseudogene
LOC392206:
similar to
ribosomal protein
L10a
NAT2: Nacetyltransferase
2 (arylamine Nacetyltransferase)
AC, ASAH,
FLJ21558,
FLJ22079, PHP,
PHP32,
acylsphingosine
deacylase
AAC1, NATI, Nacetyltransferase
1; arylamide
acetylase 1 (Nacetyltransferase
1); arylamine Nacetyltransferase
1
427
228000
359764
pseudogene
1001330
73
pseudogene
9
108345
carboxylic acid metabolic
process
ceramide metabolic process
fatty acid metabolic process
lung development
response to organic
substance
lysosome
Specific and quantitative reverse transcription-polymerase chain reaction
assay for transcription from the major NAT1 promoter detected high
expression with limited variability in human tissues. For esophageal and
gastric adenocarcinomas, no consistent patterns of elevated risk were
associated with one or two copies of NAT110 or 11 alleles. Genetic
variation may affect the degree of association between pre-1980 hair dye
use and the risk of non-Hodgkin lymphoma. In breast, NAT1 mRNA is
transcribed from a strong promoter located 11.8 kb upstream of the
translated exon, and the mature spliced mRNA includes at least one
additional non-coding exon. Single nucleotide polymorphisms of NAT1 and
NAT2, and acetylation haplotype were not associated with increased risk
for Parkinson disease. The genotype for the NAT1 C1095A polymorphism
does not appear to be an independent risk factor for spina bifida.
acetyltransferase activity
arylamine Nacetyltransferase activity
arylamine Nacetyltransferase activity
transferase activity
metabolic process
cytoplasm
This gene encodes N-acetyltransferase 2 (arylamine N-acetyltransferase 2).
This enzyme functions to both activate and deactivate arylamine and
hydrazine drugs and carcinogens. Polymorphisms in this gene are
reponsible for the N-acetylation polymorphism in which human populations
segregate into rapid,intermediate, and slow acetylator phenotypes.
Polymorphisms in NAT2 are also associated with higher incidences of
cancer and drug toxicity. A second arylamine N-acetyltransferase gene
(NAT1) is located near NAT2.
acetyltransferase activity
arylamine Nacetyltransferase activity
arylamine Nacetyltransferase activity
transferase activity
metabolic process
cytoplasm
pseudogene
392206
10
Protein
coding
ceramidase activity
hydrolase activity
transferase activity,
transferring acyl groups,
acyl groups converted
into alkyl on transfer
pseudogene
11
AAC2, Arylamine
Nacetyltransferase2; arylamide
acetylase 2;
arylamide
acetylase 2 (Nacetyltransferase
2, isoniazid
inactivation);
arylamine Nacetyltransferase
Protein
coding
myeloid leukemia yields a new PCM1-JAK2 fusion gene. To study the
rearrangement created by the t(8;9)(p22;p24)used dual-colour FISH on
metaphases from patient cells using labelled-BAC clones centred on PCM1.
The PCM1 gene is implicated in susceptibility to schizophrenia and is
associated with orbitofrontal gray matter volumetric deficits.
This gene encodes a heterodimeric protein consisting of a nonglycosylated
alpha subunit and a glycosylated beta subunit that is cleaved to the mature
enzyme posttranslationally. The encoded protein catalyzes the synthesis and
degradation of ceramide into sphingosine and fatty acid. Mutations in this
gene have been associated with a lysosomal storage disorder known as
Farber disease. Two transcript variants encoding distinct isoforms have
been identified for this gene.
243400
Protein
coding
28
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
256
8p22
1843234318915476
PSD3: pleckstrin
and Sec7 domain
containing 3
257
8p22
1863527018635569
LOC100131275:
similar to nervous
system abundant
protein 11
LOC100128993:
similar to
hCG2036572
LOC442382:
ATPase, Ca++
transporting,
plasma membrane
1 pseudogene
SH2D4A: SH2
domain
containing 4A
ChGn:
chondroitin
beta1,4 Nacetylgalactosami
nyltransferase
258
8p22
259
8p22
1914022719142663
260
8p21.2
1921548319297596
261
8p21.2
1930595219584374
262
8p21.2
1950073019501992
263
8p21.3
1971919819753869
264
8p21.3
1984105819869049
1908546419086494
LOC100130604:
hypothetical
protein
LOC100130604
INTS10:
integrator
complex subunit
10
LPL: lipoprotein
lipase
2
DKFZp761K142,
EFA6R, HCA67,
ADP-ribosylation
factor guanine
nucleotide factor
6; hepatocellular
carcinomaassociated antigen
67
NSAP11
23362
Protein
coding
FLJ20967, SH2A
CSGalNAcT-1,
ChGn, FLJ11264,
beta4GalNAcT
ARF guanyl-nucleotide
exchange factor activity
regulation of ARF protein
signal transduction
cell junction
intracellular
postsynaptic membrane
synapse
Protein
coding
1001312
75
hypothetical
protein
LOC100128993
Down regulated in ovarian cancer or absent in ovarian cancer and impact
survival
Protein
coding
1001289
93
442382
pseudogene
63898
Protein
coding
protein bindimg
306375
Protein
coding
glucuronosyl-Nacetylgalactosaminylproteoglycan 4-beta-Nacetylgalactosaminyltran
sferase activity
glucuronosyltransferase
activity
glucuronylgalactosylprot
eoglycan 4-beta-Nacetylgalactosaminyltran
sferase activity
peptidoglycan
glycosyltransferase
activity
UDP-Nacetylgalactosamine
metabolic process UDPglucuronate metabolic
process chondroitin sulfate
biosynthetic process
chondroitin sulfate
proteoglycan biosynthetic
process, polysaccharide
chain biosynthetic process
soluble fraction
1001306
04
Protein
coding
protein bindimg
snRNA processing
integrator complex
nucleus
heparin binding
hydrolase activity
lipid transporter activity
lipoprotein lipase
activity
blood circulation
fatty acid metabolic process
lipid catabolic process
phospholipid metabolic
process
chylomicron
extracellular region
plasma membrane
C8orf35,
FLJ10569, INT10
55174
611353
Protein
coding
HDLCQ11, LIPD
4023
609708
Protein
coding
LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and
adipose tissue. LPL functions as a homodimer, and has the dual functions of
triglyceride hydrolase and ligand/bridging factor for receptor-mediated
lipoprotein uptake. Severe mutations that cause LPL deficiency result in
type I hyperlipoproteinemia, while less extreme mutations in LPL are linked
29
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
to many disorders of lipoprotein metabolism.
phospholipase activity
triacylglycerol lipase
activity
drug transporter activity
monoamine
transmembrane
transporter activity
triacylglycerol metabolic
process
265
8p21.3
2004665220084997
SLC18A1: solute
carrier family 18
(vesicular
monoamine),
member 1
CGAT, VAT1,
VMAT1
6570
193002
Protein
coding
Expression analysis confirmed that VMAT1 is expressed in human brain at
the mRNA and protein level. Results suggest that variations in the VMAT1
gene may confer susceptibility to Bipolar Disorder in patients of European
descent. Greater expression of VMAT 1 in von Hippel-Lindau syndrome
than multiple endocrine neoplasia type 2.
266
8p21.3
2009898420123487
ATP6V1B:
ATPase, H+
transporting,
lysosomal
56/58kDa, V1
subunit B2
526
606939
Protein
coding
This gene encodes a component of vacuolar ATPase (V-ATPase), a
multisubunit enzyme that mediates acidification of eukaryotic intracellular
organelles. V-ATPase dependent organelle acidification is necessary for
such intracellular processes as protein sorting, zymogen activation,
receptor-mediated endocytosis, and synaptic vesicle proton gradient
generation. V-ATPase is composed of a cytosolic V1 domain and a
transmembrane V0 domain. The V1 domain consists of three A, three B,
and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain
contains the ATP catalytic site. The protein encoded by this gene is one of
two V1 domain B subunit isoforms and is the only B isoform highly
expressed in osteoclasts.
hydrogen ion
transporting ATP
synthase activity,
rotational mechanism
hydrogen ion
transporting ATPase
activity, rotational
mechanism
hydrogen-exporting
ATPase activity,
phosphorylative
mechanism
hydrolase activity
metal ion binding
ATP synthesis coupled
proton transport
energy coupled proton
transport, against
electrochemical gradient
ion transport
267
8p21.3
2014795620157083
LZTS1: leucine
zipper, putative
tumor suppressor
1
ATP6B1B2,
ATP6B2, HO57,
VATB, VPP3,
Vma2, ATPase,
H+ transporting,
lysosomal
(vacuolar proton
pump), beta
polypeptide,
56/58kD, isoform
2; ATPase, H+
transporting,
lysosomal
56/58kDa, V1
subunit B,
isoform 2; H+
transporting twosector ATPase; VATPase B2
subunit;
endomembrane
proton pump 58
kDa subunit;
vacuolar H+ATPase 56,000
subunit; vacuolar
H+ATPase B2
F37, FEZ1,
F37/Esophageal
cancer-related
gene-coding
leucine-zipper
motif
cytoplasmic vesicle
cytoplasmic vesicle
membrane
integral to membrane
membrane
membrane fraction
cytoplasm
melanosome
membrane
proton-transporting
two-sector ATPase
complex
11178
606551
Protein
coding
Variation in the germline sequence is associated with prostate cancer risk.
Down-regulation of FEZ1/LZTS1 gene with frequent loss of heterozygosity
is associated with oral squamous cell carcinomas
protein bindimg
transcription factor
activity
cell cycle
negative regulation of cell
cycle
regulation of transcription,
DNA-dependent
transcription
cell junction, cell
projection, cytoplasm
nucleus, plasma
membrana,
postsynaptic
membrana, synapse
268
8p21.3
2083431220836707
269
8p21.3
2083610020874499
270
8p21.3
2159381021652734;
21688430-
LOC724059:
transmembrane
protein 97
pseudogene
LOC100129163:
hypothetical
LOC100129163
GFRA2: GDNF
family receptor
alpha 2
Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are
two structurally related, potent neurotrophic factors that play key roles in
the control of neuron survival and differentiation. The protein encoded by
glial cell line-derived
neurotrophic factor
receptor activity
transmembrane receptor
protein tyrosine kinase
signaling pathway
extrinsic to membrane
plasma membrane
724059
pseudogene
similar to MAC30
1001291
63
pseudogene
GDNFRB,
NRTNR-ALPHA,
NTNRA, RETL2,
2675
601956
Protein
coding
drug transport
monoamine transport
30
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
21702292
TRNR2,GFRalpha 2; PI-linked
cell-surface
accessory protein;
RET ligand 2;
TGF-beta related
neurotrophic
factor receptor 2;
TRN receptor,
GPI-anchored;
glial cell line
derived
neurotrophic
factor receptor,
beta; glial cell
line-derived
neurotrophic
factor family
receptor alpha2b;
neurturin receptor
alpha
this gene is a member of the GDNF receptor family. It is a
glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both
GDNF and NTN, and mediates activation of the RET tyrosine kinase
receptor. This encoded protein acts preferentially as a receptor for NTN
compared to its other family member, GDNF family receptor alpha 1. This
gene is a candidate gene for RET-associated diseases.
GFRalpha-2 were observed within sensory and motor nuclei of cranial
nerves, dorsal column nuclei, olivary nuclear complex, reticular formation,
pontine nuclei, locus caeruleus, raphe nuclei, substantia nigra, and
quadrigeminal plate. Both GFR alpha2a and GFR alpha2c, but not GFR
alpha2b, promote neurite outgrowth in transfected Neuro2A cells.
403294
pseudogene
Olfactory receptors interact with odorant molecules in the nose, to initiate a
neuronal response that triggers the perception of a smell. The olfactory
receptor proteins are members of a large family of G-protein-coupled
receptors (GPCR) arising from single coding-exon genes. Olfactory
receptors share a 7-transmembrane domain structure with many
neurotransmitter and hormone receptors and are responsible for the
recognition and G protein-mediated transduction of odorant signals. The
olfactory receptor gene family is the largest in the genome. The
nomenclature assigned to the olfactory receptor genes and proteins for this
organism is independent of other organisms.
The protein encoded by this gene is constitutively tyrosine phosphorylated
in hematopoietic progenitors isolated from chronic myelogenous leukemia
(CML) patients in the chronic phase. It may be a critical substrate for
p210(bcr/abl), a chimeric protein whose presence is associated with CML.
This encoded protein binds p120 (RasGAP) from CML cells.
receptor activity
271
8p21.3
2171044421711454
OR6R2P:
olfactory receptor,
family 6,
subfamily R,
member 2
pseudogene
272
8p21.3
2182233021827151
DOK2: docking
protein 2, 56kDa
p56DOK,
p56dok-2,
docking protein 2
9046
604997
Protein
coding
273
8p21.3
2183312821918930
XPO7: exportin 7
KIAA0745,
RANBP16, RAN
binding protein 16
23039
606140
Protein
coding
The transport of protein and large RNAs through the nuclear pore
complexes (NPC) is an energy-dependent and regulated process. The import
of proteins with a nuclear localization signal (NLS) is accomplished by
recognition of one or more clusters of basic amino acids by the importinalpha/beta complex. The small GTPase RAN (MIM 601179) plays a key
role in NLS-dependent protein import. RAN-binding protein-16 is a
member of the importin-beta superfamily of nuclear transport receptors.
binding
nuclear export signal
receptor activity
protein transporter
activity
274
8p21.3
2193830021950354
NPM2:
nucleophosmin/nu
cleoplasmin, 2
MGC7865,
nucleoplasmin 2
10361
608073
Protein
coding
Expression of NPM2 in HeLa cells
histone binding
nucleic acid binding
identical protein
bindimg
insulin receptor binding
transmembrane receptor
protein tyrosine kinase
docking protein activity
Ras protein signal
transduction
Cell surface receptor linked
signal transduction
Transmembrane receptor
protein tyrosine kinase
signaling pathway
intracellular protein
transport
intracellular protein
transport across a
membrane
mRNA transport
protein export from nucleus
protein import into nucleus,
docking
chromatin remodeling
embryonic development
oocyte differentiation
positive regulation of
meiosis
cytoplasm
nuclear pore
nucleus
cytoplasmic chromatin
nuclear chromatin
nucleus
31
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
275
8p21.3
2195637421962266
FGF17: fibroblast
growth factor 17
FGF-13
8822
603725
Protein
coding
276
8p21.3
2197268021995982
EPB49:
erythrocyte
membrane protein
band 4.9
(dematin)
2039
125305
Protein
coding
277
8p21.3
2200266022017836
RAI16: retinoic
acid induced 16
278
8p21.3
2202032922023813
279
8p21.3
280
8p21.3
2215842022158501
2218879622269545
NUDT18: nudix
(nucleoside
diphosphate
linked moiety X)type motif 18
MIRN320:
microRNA 320
PIWIL2: piwi-like
2 (Drosophila)
DMT, FLJ78462,
FLJ98848,
dematin;
erythrocyte
membrane protein
band 4.9
FLJ11125,
FLJ21801,
MGC138352
FLJ22494
281
8p21.3
8p21.3
2202787722043975
HR: hairless
homolog (mouse)
282
8p21.3
2205147822055393
REEP4: receptor
accessory protein
4
283
8p21.3
2206028822070289
LGI3: leucinerich repeat LGI
64760
Protein
coding
79873
Protein
coding
407037
miscRNA
The protein encoded by this gene is a member of the fibroblast growth
factor (FGF) family. FGF family members possess broad mitogenic and cell
survival activities, and are involved in a variety of biological processes
including embryonic development cell growth, morphogenesis, tissue
repair, tumor growth and invasion. This gene was shown to be prominently
expressed in the cerebellum and cortex. The mouse homolog of this gene
was localized to specific sites in the midline structures of the forebrain, the
midbrain-hindbrain junction, developing skeleton and developing arteries,
which suggests a role in central nervous system, bone and vascular
development. This gene was referred to as FGF-13 in reference 2, however,
its amino acid sequence and chromosomal localization are identical to
FGF17. FGF17 expression is increased 2-fold in benign prostatic
hyperplasia and may contribute to the increased epithelial proliferation seen
in this disease.
Results suggest that phosphorylation of the dematin headpiece acts as a
conformational switch within this headpiece domain and a crucial role for
this proline residue in structural stability and folding potential of HP
(sub)domains consistent with Pro-Trp stacking as a more general
determinant of protein stability
growth factor activity
actin binding
regulation of exit from
mitosis
single fertilization
cell-cell signaling
fibroblast growth factor
receptor signaling pathway
nervous system
development
positive regulation of cell
proliferation
signal transduction
extracellular region
extracellular space
actin filament bundle
formation
barbed-end actin filament
capping
cytoskeleton organization
and biogenesis
actin cytoskeleton
cytoplasm
cell differentiation
meiotic prophase I
multicellular organismal
development
spermatogenesis
regulation of transcription,
DNA-dependent
transcription
cytoplasm
hydrolase activity
FLJ10351, HILI,
MGC133049,
PIWIL1L, mili,
Miwi like; piwilike 2
ALUNC, AU,
HSA277165,
hairless protein
55124
610312
Protein
coding
Stem-cell protein Piwil2 is widely expressed in tumors and inhibits
apoptosis through activation of Stat3/Bcl-XL pathway.
nucleic acid binding
protein bindimg
55806
602302
Protein
coding
This gene encodes a protein whose function has been linked to hair growth.
A similar protein in rat functions as a transcriptional corepressor for thyroid
hormone and interacts with histone deacetylases. Mutations in this gene
have been documented in cases of autosomal recessive congenital alopecia
and atrichia with papular lesions.
metal ion binding
transcription factor
activity
zinc ion binding
C8orf20,
FLJ22246,
FLJ22277, PP432,
receptor
expression
enhancing protein
4
LGIL4
80346
609349
Protein
coding
203190
608302
Protein
coding
nucleus
integral to membrane
membrane
protein bindimg
extracellular region
32
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
2207883522125782
family, member 3
BMP1: bone
morphogenetic
protein 1
284
8p21.3
285
8p21.3
286
8p21.3
2207511322077928
287
8p21.3
2213318122145549
PHYHIP:
phytanoyl-CoA 2hydroxylase
interacting protein
288
8p21.3
2215856422164625
POLR3D:
polymerase
(RNA) III (DNA
directed)
polypeptide D,
44kDa
289
8p21.3
2228073722336143
SLC39A14:
solute carrier
2208330422083926
LOC100129433:
hypothetical
LOC100129433
SFTPC:
surfactant,
pulmonaryassociated protein
C
FLJ44432,
PCOLC, PCP,
TLD, procollagen
C-endopeptidase
649
112264
1001294
33
PSP-C, SFTP2,
SMDP2, SP-C,
pulmonary
surfactant
apoprotein-2 SPC; surfactant
pulmonaryassociated protein
C
DYRK1AP3,
KIAA0273,
PAHX-AP,
DYRK1A
interacting protein
3; phytanoyl-CoA
alpha-hydroxylase
associated
protein;
phytanoyl-CoA
hydroxylase
interacting protein
BN51T, RPC4,
RPC53, TSBN51,
BN51 (BHK21)
temperature
sensitivity
complementing;
polymerase
(RNA) III (DNA
directed)
polypeptide D;
temperature
sensitive
complementation,
cell cycle specific,
tsBN51
KIAA0062, LZTHs4, ZIP14,
Protein
coding
The BMP1 locus encodes a protein that is capable of inducing formation of
cartilage in vivo. Although other bone morphogenetic proteins are members
of the TGF-beta superfamily, BMP1 encodes a protein that is not closely
related to other known growth factors. BMP1 protein and procollagen C
proteinase (PCP), a secreted metalloprotease requiring calcium and needed
for cartilage and bone formation, are identical. PCP or BMP1 protein
cleaves the C-terminal propeptides of procollagen I, II, and III and its
activity is increased by the procollagen C-endopeptidase enhancer protein.
The BMP1 gene is expressed as alternatively spliced variants that share an
N-terminal protease domain but differ in their C-terminal region
astacin activity
calcium ion binding
cytokine activity
growth factor activity
metal ion binding
metallopeptidase activity
procollagen Cendopeptidase activity
zinc ion binding
cartilage condensation
cell differentiation
multicellular organismal
development
ossification
proteolysis
Extracellular space
regulation of liquid surface
tension
respiratory gaseous
exchange
extracellular region
extracellular space
proteinaceous
extracellular matrix
pseudogene
6440
178620
Protein
coding
Results suggest common cellular responses, including initiation of celldeath signaling pathways, to these lung disease-associated SP-C BRICHOS
domain proteins. Finding of heterozygosity for ABCA3 mutations in
severely affected infants with SFTPC I73T, and independent inheritance
from disease-free parents supports that ABCA3 acts as a modifier gene for
the phenotype associated with an SFTPC mutation.
9796
608511
Protein
coding
PAHX-AP1 may contribute to new cellular functions of DYRK1A and
suggest that PAHX-AP1 may be involved in the development of
neurological abnormalities observed in Down syndrome patients
661
187280
Protein
coding
This gene complements a temperature-sensitive mutant isolated from the
BHK-21 Syrian hamster cell line. It leads to a block in progression through
the G1 phase of the cell cycle at nonpermissive temperatures.
DNA binding
DNA-directed RNA
polymerase activity
transcription
transcription from RNA
polymerase III promoter
DNA-directed RNA
polymerase III
complex
nucleus
23516
608736
Protein
coding
Zinc is an essential cofactor for hundreds of enzymes. It is involved in
protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the
metal ion
transmembrane
ion transport
metal ion transport
integral to membrane
membrane
33
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
family 39 (zinc
transporter),
member 14
290
8p21.3
2235454122454583
PPP3CC: protein
phosphatase 3
(formerly 2B),
catalytic subunit,
gamma isoform
291
8p21.3
2240586122406933
292
8p21.3
2246519622488953
LOC652964:
basic transcription
factor 3
pseudogene
SORBS3: sorbin
and SH3 domain
containing 3
293
8p21.3
2249258822511483
294
8p21.3
295
cig19, Zrt-, Irtlike protein 14;
solute carrier
family 39 (metal
ion transporter),
member 14
CALNA3,
calcineurin A
gamma
5533
114107
652964
Protein
coding
control of gene transcription, growth, development, and differentiation.
SLC39A14 belongs to a subfamily of proteins that show structural
characteristics of zinc transporters.
transporter activity
zinc ion binding
Calmodulin-dependent protein phosphatase, calcineurin, is involved in a
wide range of biologic activities, acting as a Ca(2+)-dependent modifier of
phosphorylation status. This gene has been identified in humans, mice, and
rats, and are highly conserved between species (90 to 95% amino acid
identity). Results identify PPP3CC, located at 8p21.3, as a potential
schizophrenia susceptibility gene and support the proposal that alterations in
calcineurin signaling contribute to schizophrenia pathogenesi
calmodulin binding
hydrolase activity
iron ion binding
metal ion binding
phosphoprotein
phosphatase activity
zinc ion binding
zinc ion transport
calcineurin complex
pseudogene
SCAM-1,
SCAM1, SH3D4,
VINEXIN,
vinexin beta
(SH3-containing
adaptor molecule1)
10174
610795
Protein
coding
Vinexin is enriched at the leading edge of migrating cells, lamellipodia and
and focal adhesions in well-spread cells. Vinexin beta plays a role in
maintaining the phosphorylation of EGFR on the plasma membrane through
the regulation of c-Cbl, regulates cytoskeletal organization and signal
transduction.
structural constituent of
cytoskeleton
transcription factor
binding
vinculin binding
PDLIM2: PDZ
and LIM domain
2 (mystique)
FLJ34715, SLIM,
PDZ and LIM
domain 2;
mystique
64236
609722
Protein
coding
metal ion binding
protein bindimg
zinc ion binding
2251820222533929
KIAA1967
DBC-1, DBC1,
deleted in breast
cancer 1; p30
DBC protein
57805
607359
Protein
coding
Knockdown of Mystique 2 with small interfering RNA abrogated both
adhesion and migration in MCF10A and MCF-7 cells. PDLIM2 deficiency
resulted in larger amounts of nuclear p65, defective p65 ubiquitination and
augmented production of proinflammatory cytokines in response to innate
stimuli
Biological function for DBC-1 in the modulation of ERalpha expression
and hormone-independent breast cancer cell survival. Caspase-dependent
processing of DBC-1 may act as a feed-forward mechanism to promote
apoptosis and possibly also tumor suppression. BC-1 functions to modulate
ER alpha expression and hormone-independent breast cancer cell survival.
8p21.3
2251306722517608
Protein
coding
8p21.3
2253387622582540
FLJ34715,
hypothetical
protein
LOC541565
MGC14978
541565
296
C8orf58:
chromosome 8
open reading
frame 58
BIN3: bridging
integrator 3
361065
Protein
coding
297
8p21.3
2255474822555669
FLJ14107:
hypothetical
80094
unknown
cell-substrate adhesion
negative regulation of
transcription from RNA
polymerase II promoter
positive regulation of
MAPKKK cascade
positive regulation of
cytoskeleton organization
and biogenesis
positive regulation of stress
fiber formation
cell junction
cytoplasm
cytoskeleton
colocalizes_with focal
adhesion
membrane
nucleus
cell surface
cytoplasm
cytoskeleton
nucleus
molecular_function
protein bindimg
apoptosis
cytoplasm
mitochondrial matrix
nucleus
cytoskeletal adaptor
activity
protein bindimg
actin filament organization
barrier septum formation
cell cycle
cell division
cytokinesis
endocytosis
protein localization
unidimensional cell growth
Cytoplasm
cytoskeleton
34
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
protein FLJ14107
EGR3: early
growth response 3
298
8p21.3
2260111922606760
299
8p21.3
2262671022841366
PEBP4:
phosphatidylethan
olamine-binding
protein 4
300
8p21.3
2291340722933653
301
8p21.3
2293359122982637
RHOBTB: Rhorelated BTB
domain
containing 2
TNFRSF10B:
tumor necrosis
factor receptor
superfamily,
member 10b
MGC138484,
PILOT, zinc
finger protein
pilot
1960
CORK-1,
CORK1,
GWTM1933,
MGC22776,
PRO4408, cousinof-RKIP 1 protein
DBC2,
KIAA0717,
deleted in breast
cancer 2
CD262, DR5,
KILLER,
KILLER/DR5,
TRAIL-R2,
TRAILR2,
TRICK2,
TRICK2A,
TRICK2B,
TRICKB,
ZTNFR9, Fas-like
protein; TNFrelated apoptosisinducing ligand
receptor 2;
TRAIL receptor
2; apoptosis
inducing protein
TRICK2A/2B;
apoptosis
inducing receptor
TRAIL-R2;
cytotoxic TRAIL
receptor-2; death
domain
containing
receptor for
TRAIL/Apo-2L;
death receptor 5;
p53-regulated
DNA damageinducible cell
death
157310
602419
Protein
coding
The gene encodes a transcriptional regulator that belongs to the EGR family
of C2H2-type zinc-finger proteins. It is an immediate-early growth response
gene which is induced by mitogenic stimulation. The protein encoded by
this gene participates in the transcriptional regulation of genes in controling
biological rhythm. It may also plays a role in muscle development. Some
findings support the previous genetic association of altered calcineurin
signaling with schizophrenia pathogenesis and identify EGR3 as a
compelling susceptibility gene.
Protein
coding
Anti-apoptotic hPEBP4 silencing promotes TRAIL-induced apoptosis of
human ovarian cancer cells by activating ERK and JNK pathways. A novel
human phosphatidylethanolamine-binding protein resists tumor necrosis
factor alpha-induced apoptosis by inhibiting mitogen-activated protein
kinase pathway activation and phosphatidylethanolamine externalization.
RHOBTB2 is a member of the evolutionarily conserved RHOBTB
subfamily of Rho GTPases. DBC2 plays an essential role in microtubulemediated VSVG transport from the endoplasmic reticulum to the Golgi
apparatus
The protein encoded by this gene is a member of the TNF-receptor
superfamily, and contains an intracelluar death domain. This receptor can be
activated by tumor necrosis factor-related apoptosis inducing ligand
(TNFSF10/TRAIL/APO-2L), and transduces apoptosis signal. Studies with
FADD-deficient mice suggested that FADD, a death domain containing
adaptor protein, is required for the apoptosis mediated by this protein.
23221
607352
Protein
coding
8795
603612
Protein
coding
metal ion binding
nucleic acid binding
transcription factor
activity
zinc ion binding
circadian rhythm
muscle development
neuromuscular synaptic
transmission
peripheral nervous system
development
regulation of transcription,
DNA-dependent
transcription
intracellular
nucleus
GTP binding
nucleotide binding
protein bindimg
small GTPase mediated
signal transduction
intracellular
TRAIL binding
caspase activator
activity
protein bindimg
receptor activity
activation of NF-kappaBinducing kinase
caspase activation
cell surface receptor linked
signal transduction
induction of apoptosis via
death domain receptors
positive regulation of IkappaB kinase/NF-kappaB
cascade
regulation of apoptosis
signal transduction
integral to membrane
membrane
35
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
302
8p21.3
2301637923030895
TNFRSF10C:
tumor necrosis
factor receptor
superfamily,
member 10c,
decoy without an
intracellular
domain
303
8p21.3
2304904623077485
TNFRSF10D:
tumor necrosis
factor receptor
superfamily,
member 10d,
decoy with
truncated death
domain
304
8p21.3
2310491523138584
TNFRSF10A:
tumor necrosis
factor receptor
receptor(killer);
tumor necrosis
factor receptorlike protein
ZTNFR9
CD263, DCR1,
LIT,
MGC149501,
MGC149502,
TRAILR3, TRID,
TNF related
TRAIL receptor;
TNF related
apoptosisinducing ligand
receptor 3;
TRAIL receptor
3; antagonist
decoy receptor for
TRAIL/Apo-2L;
decoy receptor 1;
decoy without an
intracellular
domain;
lymphocyte
inhibitor of
TRAIL; tumor
necrosis factor
receptor
superfamily,
member 10c
CD264, DCR2,
TRAILR4,
TRUNDD, TNF
receptor-related
receptor for
TRAIL; TRAIL
receptor 4;
TRAIL receptor
with a truncated
death domain;
decoy receptor 2;
decoy with
truncated death
domain; tumor
necrosis factor
receptor
superfamily,
member 10d
APO2, CD261,
DR4, MGC9365,
TRAILR-1,
8794
603613
Protein
coding
The protein encoded by this gene is a member of the TNF-receptor
superfamily. This receptor contains an extracellular TRAIL-binding domain
and a transmembrane domain, but no cytoplasmic death domain. This
receptor is not capable of inducing apoptosis, and is thought to function as
an antagonistic receptor that protects cells from TRAIL-induced apoptosis.
This gene was found to be a p53-regulated DNA damage-inducible gene.
The expression of this gene was detected in many normal tissues but not in
most cancer cell lines, which may explain the specific sensitivity of cancer
cells to the apoptosis-inducing activity of TRAIL
transmembrane receptor
activity
protein bindimg
apoptosis
integral to plasma
membrane
plasma membrane
8793
603614
Protein
coding
The protein encoded by this gene is a member of the TNF-receptor
superfamily. This receptor contains an extracellular TRAIL-binding
domain, a transmembrane domain, and a truncated cytoplamic death
domain. This receptor does not induce apoptosis, and has been shown to
play an inhibitory role in TRAIL-induced cell apoptosis.
transmembrane receptor
activity
Apoptosis
ANTI-apoptosis
signal transduction
integral to membrane
membrane
8797
603611
Protein
coding
The protein encoded by this gene is a member of the TNF-receptor
superfamily. This receptor is activated by tumor necrosis factor-related
apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell
TRAIL binding
caspase activator
activity
activation of NF-kappaBinducing kinase
apoptosis
integral to membrane
membrane
36
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
superfamily,
member 10a
TRAILR1, TNFrelated apoptosis
inducing ligand
receptor 1;
cytotoxic TRAIL
receptor; death
receptor 4
MGC29816
death signal and induces cell apoptosis. Studies with FADD-deficient mice
suggested that FADD, a death domain containing adaptor protein, is
required for the apoptosis mediated by this protein.
91782
305
8p21.3
2315711423175452
CHMP7: CHMP
family, member 7
306
8p21.3
2320138723209737
DKFZp564N123
203069
307
8p21.3
2321035523317667
R3HCC1: R3H
domain and
coiled-coil
containing 1
LOXL2: lysyl
oxidase-like 2
LOR2, WS9-14,
lysyl oxidase
homolog 2; lysyl
oxidase related 2
4017
606663
Protein
coding
308
8p21.3
2334607523376624
ENTPD4:
ectonucleoside
triphosphate
diphosphohydrola
se 4
KIAA0392,
LALP70, LAP70,
LYSAL1,
NTPDase-4,
UDPase, apyrase,
lysosomal;
guanosinediphosphatase like
protein; lysosomal
apyrase-like 1
9583
607577
Protein
coding
309
8p21.3
2339271523400941
310
8p21.2
2344230823486008
LOC646708:
similar to cysteine
string protein
SLC25A37:
solute carrier
family 25,
member 37
311
8p21.2
23546171-
LOC646721:
611130
51312
646721
UBPY MIT domain and another ubiquitin isopeptidase, AMSH, reveals
common interactions with CHMP1A and CHMP1B but a distinct selectivity
of AMSH for CHMP3/VPS24, a core subunit of the ESCRT-III complex,
and UBPY for CHMP7. Results suggest that CHMP7, a novel CHMP4associated ESCRT-III-related protein, functions in the endosomal sorting
pathway.
Protein
coding
646708
HT015, MFRN,
MSC, MSCP,
PRO1278,
PRO1584,
PRO2217,
mitochondrial
solute carrier
protein;
mitoferrin;
predicted protein
of HQ2217
similar to
Protein
coding
death receptor activity
receptor activity
caspase activation
induction of apoptosis
induction of apoptosis via
death domain receptors
signal transduction
protein transport
cytoplasm
copper ion binding
electron carrier activity
metal ion binding
protein-lysine 6-oxidase
activity
scavenger receptor
activity
aging
cell adhesion
protein modification
process
extracellular region
extracellular space
membrane
calcium ion binding
hydrolase activity
magnesium ion binding
uridine-diphosphatase
activity
UDP catabolic process
Golgi apparatus
Golgi membrane
cytoplasmic vesicle
integral to Golgi
membrane
integral to membrane
membrane
binding
iron ion binding
iron ion transmembrane
transporter activity
ion transport
mitochondrial iron ion
transport
integral to membrane
membrane
mitochondrial inner
membrane
mitochondrion
nucleic acid binding
This gene encodes a member of the lysyl oxidase gene family. The
prototypic member of the family is essential to the biogenesis of connective
tissue, encoding an extracellular copper-dependent amine oxidase that
catalyses the first step in the formation of crosslinks in collagens and
elastin. A highly conserved amino acid sequence at the C-terminus end
appears to be sufficient for amine oxidase activity, suggesting that each
family member may retain this function. The N-terminus is poorly
conserved and may impart additional roles in developmental regulation,
senescence, tumor suppression, cell growth control, and chemotaxis to each
member of the family
The VSFASSQQ motif confers calcium sensitivity to LALP70 during UDP
cleavage
pseudogene
610387
Protein
coding
pseudogene
37
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
23548965
similar to Protein
FAM60A (Tera
protein)
NKX3-1: NK3
homeobox 1
312
8p21.2
2359217323596395
313
8p21.2
2361590923618280
NKX2-6: NK2
transcription
factor related,
locus 6
(Drosophila)
314
8p21.2
2375537923768265
315
8p21.2
316
317
hCG2020539
BAPX2, NKX3,
NKX3.1,
NKX3A, NK
homeobox
(Drosophila),
family 3, A; NK3
transcription
factor homolog A;
NK3 transcription
factor related,
locus 1
CSX2, NKX4-2,
tinman paralog
4824
602041
Protein
coding
The homeodomain-containing transcription factor NKX3A is a putative
prostate tumor suppressor that is expressed in a largely prostate-specific and
androgen-regulated manner. Loss of NKX3A protein expression is a
common finding in human prostate carcinomas and prostatic intraepithelial
neoplasia
protein bindimg
sequence-specific DNA
binding
transcription factor
activity
multicellular organismal
development
regulation of transcription,
DNA-dependent
nucleus
137814
611770
Protein
coding
Weakly activates transcription of a Cx40 promoter, may have role in heart
development
sequence-specific DNA
binding
transcription factor
activity
nucleus
STC1:
stanniocalcin 1
STC
6781
601185
Protein
coding
hormone activity
2420756524268660
ADAM28:
ADAM
metallopeptidase
domain 28
10863
606188
Protein
coding
metal ion binding
metalloendopeptidase
activity
zinc ion binding
proteolysis
spermatogenesis
extracellular region
integral to membrane
plasma membrane
8p21.2
2429791624319471
ADAMDEC1:
ADAM-like,
decysin 1
ADAM23, MDCLm, MDC-Ls,
MDCL, Emdcii, a
disintegrin and
metalloproteinase
domain 28;
metalloproteinaselike, disintegrinlike, and cysteinerich protein-L
M12.219,
decysin;
disintegrin
protease
This gene encodes a secreted, homodimeric glycoprotein that is expressed
in a wide variety of tissues and may have autocrine or paracrine functions.
The gene contains a 5' UTR rich in CAG trinucleotide repeats. The encoded
protein contains 11 conserved cysteine residues and is phosphorylated by
protein kinase C exclusively on its serine residues. The protein may play a
role in the regulation of renal and intestinal calcium and phosphate
transport, cell metabolism, or cellular calcium/phosphate homeostasis.
Overexpression of human stanniocalcin 1 in mice produces high serum
phosphate levels, dwarfism, and increased metabolic rate. This gene has
altered expression in hepatocellular, ovarian, and breast cancers
This gene encodes a member of the ADAM (a disintegrin and
metalloprotease domain) family. Members of this family are membraneanchored proteins structurally related to snake venom disintegrins, and have
been implicated in a variety of biological processes involving cell-cell and
cell-matrix interactions, including fertilization, muscle development, and
neurogenesis. The protein encoded by this gene is a lymphocyte-expressed
ADAM protein. Alternative splicing results in two transcript variants. The
shorter version encodes a secreted isoform, while the longer version
encodes a transmembrane isoform.
embryonic heart tube
development
multicellular organismal
development
regulation of transcription,
DNA-dependent
cell surface receptor linked
signal transduction
cell-cell signaling
cellular calcium ion
homeostasis
response to nutrient
27299
606393
Protein
coding
This encoded protein is thought to be a secreted protein belonging to the
disintegrin metalloproteinase family. Its expression is upregulated during
dendritic cells maturation. This protein may play an important role in
dendritic cell function and their interactions with germinal center T cells.
2435448424422171
ADAM7: ADAM
metallopeptidase
domain 7
EAPI, GP-83, a
disintegrin and
metalloproteinase
domain 7;
epididymal apical
protein I; sperm
maturation-related
8756
607310
Protein
coding
The ADAM family is composed of zinc-binding proteins that can function
as adhesion proteins and/or endopeptidases. They are involved in a number
of biologic processes, including fertilization, neurogenesis, muscle
development, and immune response
integrin-mediated signaling
pathway
negative regulation of cell
adhesion
proteolysis
proteolysis
extracellular region
integral to membrane
8p21.2
integrin binding
metal ion binding
metalloendopeptidase
activity
zinc ion binding
metalloendopeptidase
activity
zinc ion binding
extracellular region
extracellular space
integral to membrane
membrane
38
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
318
8p21.2
2482721224832511
NEFM:
neurofilament,
medium
polypeptide
150kDa
319
8p21.2
2486624024869946
NEFL:
neurofilament,
light polypeptide
68kDa
320
8p21.2
2486865624870043
321
8p21.2
2509820425326536
322
8p21.2
2534128025371837
323
8p21.2
2533269325337836
LOC100129717:
hypothetical
protein
LOC100129717
DOCK5:
dedicator of
cytokinesis 5
KCTD9:
potassium channel
tetramerisation
domain
containing 9
GNRH1:gonadotr
opin-releasing
hormone 1
(luteinizingreleasing
hormone)
324
8p21.2
2537242825421342
CDCA2: cell
division cycle
associated 2
325
8p21.2
2575749025958292
EBF2: early Bcell factor 2
glycoprotein GP83
NEF3, NF-M,
NFM,
neurofilament-3
(150 kD medium)
CMT1F, CMT2E,
NF-L, NF68,
NFL,
neurofilament,
light polypeptide
(68kD)
4741
162250
Protein
coding
4747
162280
Protein
coding
Mutations in neurofilaments are possible risk factors that may contribute to
pathogenesis in amytrophic lateral sclerosis in conjunction with one or more
additional genetic or environmental factors, but are not significant primary
causes. Variation in NEF3 influence rate of response to typical
antipsychotic medication. Two polymorphisms of neurofilament
M(Ala475Thr and Gly697Arg) occurred at similar frequencies in PD
patients and controls. A Pro725Gln substitution and a deletion of valine in
position 829 were identified in two PD patients.
Eight novel sequence variations have been identified in the NF-L gene in
patients with Charcot-Marie-Tooth phenotype: 5 variants are
polymorphisms, including 3 single nucleotide polymorphisms (SNPs), and
3 other missense mutations have been detected. Mutational anlyses of NF-L
gene in Parkinsonian patients revealed three silent DNA changes (G163A,
C224T, C487T) in three unrelated patients. Association studies based on
these haplotypes found no differences between PD patients and controls.
structural constituent of
cytoskeleton
structural molecule
activity
identical protein
bindimg
protein C-terminus
binding
structural constituent of
cytoskeleton
structural molecule
activity
axon cargo transport
intermediate filament
bundle assembly
microtubule cytoskeleton
organization and biogenesis
neurofilament cytoskeleton
organization and biogenesis
regulation of axon diameter
anterograde axon cargo
transport
axon transport of
mitochondrion
intermediate filament
organization
neurofilament bundle
assembly
retrograde axon cargo
transport
axon
cytoskeleton
intermediate filament
neurofilament
neuromuscular junction
colocalizes_with
TSC1-TSC2 complex
axon
intermediate filament
neurofilament
1001297
17
Protein
coding
DKFZp451J181,
DKFZp779M164,
DKFZp781J211
FLJ20038
80005
Protein
coding
guanyl-nucleotide
exchange factor activity
54793
Protein
coding
protein bindimg
voltage-gated potassium
channel activity
potassium ion transport
membrane
voltage-gated
potassium channel
complex
GNRH, GRH,
LHRH, LNRH
2796
luteinizing hormonereleasing factor activity
cell-cell signaling
multicellular organismal
development
negative regulation of cell
proliferation
signal transduction
extracellular region
soluble fraction
FLJ25804; RepoMan;
MGC129906;
MGC129907
COE2, EBF-2,
FLJ11500, O/E-3,
OE-3; Collier, Olf
and EBF 2; OLF1/EBF-LIKE 3;
metencephalonmesencephalnon-
157313
Protein
coding
Data show that GnRH neurones morphologically interact with astrocytes
and tanycytes in the human brain and suggest that glial cells may contribute
to the process by which the neuroendocrine brain controls the function of
GnRH neurones in humans.. estrogens may exert direct actions upon GnRH
neurons exclusively through ER-beta The proliferation of human ovarian
cancer cell lines is time- and dose-dependently reduced by GnRH and its
superagonistic analogs. JunD activated by LHRH acts as a modulator of cell
proliferation and cooperates with the anti-apoptotic and anti-mitogenic
functions of LHRH.
Repo-Man forms an essential complex with protein phosphatase 1 (PP1)
gamma and is required for the recruitment of PP1 to chromatin
Protein
coding
EBF2 belongs to the conserved Olf/EBF family (see MIM 164343) of helixloop-helix transcription factors
DNA binding
Metal ion binding
Transcription regulation
activity
Zinc ion binding
64641
152760
609934
Protein
coding
Cell cycle
Cell division
mitosis
nucleus
Multicellular organism
devlopment
Regulation of transcription,
DNA-dependent
nucleus
39
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
326
8p21.2
2616839726170067
327
8p21.2
2620495126284563
328
8p21.2
2629276326294951
329
330
2629644026326561
8p21.2
26346429-
LOC100129404:
hypothetical
LOC100129404
PPP2R2A: protein
phosphatase 2
(formerly 2A),
regulatory subunit
B, alpha isoform
SDAD1P1: SDA1
domain
containing 1
pseudogene 1
BNIP3L:
BCL2/adenovirus
E1B 19kDa
interacting protein
3-like
LOC650531:
olfactory
transcription
factor 1;
transcription
factor COE2
similar to Matrix
metallopeptidase
12
B55A, FLJ26613,
MGC52248,
PR52A, PR55A;
PP2A, subunit B,
B-alpha isoform;
PP2A, subunit B,
B55-alpha
isoform; PP2A,
subunit B, PR55alpha isoform;
PP2A, subunit B,
R2-alpha isoform;
Serine/threonine
protein
phosphatase 2A,
55 KDA
regulatory subunit
B, alpha isoform;
alpha isoform of
regulatory subunit
B55, protein
phosphatase 2;
protein
phosphatase 2
(formerly 2A),
regulatory subunit
B (PR 52), alpha
isoform
1001294
04
5520
pseudogene
604941
157489
BNIP3a, NIX;
BCL2/adenovirus
E1B 19-kd
protein-interacting
protein 3a;
BCL2/adenovirus
E1B 19kDinteracting protein
3-like; adenovirus
E1B19k-binding
protein B5
similar to DnaJ
665
650531
Protein
coding
The product of this gene belongs to the phosphatase 2 regulatory subunit B
family. Protein phosphatase 2 is one of the four major Ser/Thr
phosphatases, and it is implicated in the negative control of cell growth and
division. It consists of a common heteromeric core enzyme, which is
composed of a catalytic subunit and a constant regulatory subunit, that
associates with a variety of regulatory subunits. The B regulatory subunit
might modulate substrate selectivity and catalytic activity. This gene
encodes an alpha isoform of the regulatory subunit B55 subfamily. The
protein phosphatase 2A regulatory subunit alpha4 has a novel role in the
regulation of cell spreading and migration. Protein phosphatase 2A and
separase form a complex regulated by separase autocleavage
Protein bindimg
Protein phosphatase
type2A activity
Protein phosphatase
type2A regulator
activity
Protein aminoacid
dephosphorilation
Signal traduction
Protein phosphatase
type2A complex
This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting
protein (BNIP) family. It interacts with the E1B 19 kDa protein which is
responsible for the protection of virally-induced cell death, as well as E1B
19 kDa-like sequences of BCL2, also an apoptotic protector. The protein
encoded by this gene is a functional homolog of BNIP3, a proapoptotic
protein. This protein may function simultaneously with BNIP3 and may
play a role in tumor suppression.
lamin binding
protein
heterodimerization
activity
apoptosis
defense response to virus
induction of apoptosis
negative regulation of
apoptosis
negative regulation of
survival gene product
activity
positive regulation of
apoptosis
endoplasmic reticulum
integral to membrane
membrane
mitochondrial envelope
mitochondrion
nuclear envelope
nucleus
pseudogene
605368
Protein
coding
pseudogene
40
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
26362013
similar to DnaJ
(Hsp40) homolog,
subfamily B,
member 6 isoform
b
LOC100130267:
hypothetical
protein
LOC100130267
PNMA2:
paraneoplastic
antigen MA2
331
8p21.2
2636068226362687
332
8p21.2
2641811326427400
333
8p21.2
2646100226461965
334
8p21.2
2649133826571610
335
8p21.2
2666158426778839
ADRA1A:
adrenergic, alpha1A-, receptor
336
8p21.2
2677858626799753
337
8p21.2
2692446626925895
338
8p21.2
27149731-
LOC10027897:
hypothetical
protein
LOC100127897
LOC100132229:
similar to
hCG2040398
STMN4:
LOC338097:
proteasome
activator subunit 2
pseudogene
DPYSL2:
dihydropyrimidin
ase-like 2
1001302
67
Protein
coding
KIAA0883, MA2,
MM2, RGAG2,
onconeuronal
antigen MA2;
paraneoplastic
neuronal antigen;
retrotransposon
gag domain
containing 2
PSME2P5
10687
CRMP2,
DHPRP2, DRP-2,
DRP2; collapsin
response mediator
protein hCRMP-2
1808
602463
Protein
coding
ADRA1C,
ADRA1L1,
ALPHA1AAR; G
protein coupled
receptor;
adrenergic, alpha
-1A-, receptor;
adrenergic, alpha1C-, receptor;
alpha-1Aadrenergic
receptor
148
104221
Protein
coding
MGC111012,
603970
338097
Protein
coding
A serologic marker of paraneoplastic limbic and brain-stem encephalitis in
patients with testicular cancer. Ma1, a novel neuron- and testis-specific
protein, is recognized by the serum of patients with paraneoplastic
neurological disorders
protein bindimg
nucleus
Collapsin response mediator protein-2 transcriptional activity is inhibited by
all-trans-retinoic acid during SH-SY5Y neuroblastoma cell differentiation.
Aberrant expression of dihydropyrimidinase related proteins-2,-3 and -4 in
fetal Down syndrome brain. Significant decrease of crmp-2 protein may
represent or underlie impaired neuronal plasticity, neurodegeneration,
wiring of the brain in mesial temporal lobe epilepsy. CRMP-2 transports the
Sra-1/WAVE1 complex to axons in a kinesin-1-dependent manner and
thereby regulates axon outgrowth and formation. A significant association
was found between a single nucleotide polymorphism of the DRP-2 gene
and schizophrenia in a North American sample.
Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G proteincoupled receptor superfamily. They activate mitogenic responses and
regulate growth and proliferation of many cells. There are 3 alpha-1-AR
subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11
family of G-proteins and different subtypes show different patterns of
activation. This gene encodes alpha-1A-adrenergic receptor. Alternative
splicing of this gene generates four transcript variants, which encode four
different isoforms with distinct C-termini but having similar ligand binding
properties. Candidate gene for benign prostatic hyperplasia.
dihydropyrimidinase
activity
hydrolase activity,
acting on carbonnitrogen (but not
peptide) bonds
protein bindimg
cell differentiation
multicellular organismal
development
nervous system
development
nucleobase, nucleoside,
nucleotide and nucleic acid
metabolic process
signal transduction
axon
cell soma
cytoplasm
dendrite
mitochondrion
adrenoceptor activity
alpha1-adrenergic
receptor activity
alpha1-adrenergic
receptor activity
receptor activity
rhodopsin-like receptor
activity
G-protein coupled receptor
protein signaling pathway
apoptosis
cell-cell signaling
negative regulation of cell
proliferation
protein kinase cascade
signal transduction
smooth muscle contraction
integral to plasma
membrane
plasma membrane
pseudogene
1002789
7
Protein
coding
1001322
29
Protein
coding
81551
Protein
intracellular signaling
41
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
27171820
stathmin-like 4
339
8p21.2
2719832127224751
TRIM35:
tripartite motifcontaining 35
340
8p21.2
2722491627372820
PTK2B: PTK2B
protein tyrosine
kinase 2 beta
341
8p21.2
2737319527392730
CHRNA2 :
cholinergic
receptor,
nicotinic, alpha 2
(neuronal)
342
8p21.2
2740456227458403
EPHX2: epoxide
hydrolase 2,
cytoplasmic
RB3; stathminlike-protein RB3
HLS5,
KIAA1098,
MAIR,
MGC17233
CADTK, CAKB,
FADK2, FAK2,
FRNK, PKB,
PTK, PYK2,
RAFTK; CAK
beta; calciumdependent
tyrosine kinase;
cell adhesion
kinase beta; focal
adhesion kinase 2;
proline-rich
tyrosine kinase 2;
protein kinase B;
protein tyrosine
kinase 2 beta;
related adhesion
focal tyrosine
kinase
coding
23087
Protein
coding
2185
601212
Protein
coding
cholinergic
receptor,
nicotinic, alpha
polypeptide 2
(neuronal)
1135
118502
Protein
coding
CEH, SEH
2053
132811
Protein
coding
cascade
The protein encoded by this gene is a member of the tripartite motif (TRIM)
family. The TRIM motif includes three zinc-binding domains, a RING, a Bbox type 1 and a B-box type 2, and a coiled-coil region. The function of this
protein has not been identified.
This gene encodes a cytoplasmic protein tyrosine kinase which is involved
in calcium-induced regulation of ion channels and activation of the map
kinase signaling pathway. The encoded protein may represent an important
signaling intermediate between neuropeptide-activated receptors or
neurotransmitters that increase calcium flux and the downstream signals
that regulate neuronal activity. The encoded protein undergoes rapid
tyrosine phosphorylation and activation in response to increases in the
intracellular calcium concentration, nicotinic acetylcholine receptor
activation, membrane depolarization, or protein kinase C activation. This
protein has been shown to bind CRK-associated substrate, nephrocystin,
GTPase regulator associated with FAK, and the SH2 domain of GRB2. The
encoded protein is a member of the FAK subfamily of protein tyrosine
kinases but lacks significant sequence similarity to kinases from other
subfamilies. Four transcript variants encoding two different isoforms have
been found for this gene. These data demonstrate that LPXN forms a
signaling complex with Pyk2, c-Src, and PTP-PEST to regulate migration
of prostate cancer cells. Critical role of the carboxyl terminus of proline-rich
tyrosine kinase (Pyk2) in the activation of human neutrophils by tumor
necrosis factor: separation of signals for the respiratory burst and
degranulation. Tyrosine phosphorylation of PYK2 mediates heregulininduced glioma invasion
Mutations in the nAChRs can cause autosomal dominant nocturnal frontal
lobe epilepsy. A new CHRNA2 mutation markedly increases the receptor
sensitivity to acetylcholine, indicating that the nicotinic alpha 2 subunit
alteration is the underlying cause. A novel permutation testing method
implicates sixteen nicotinic acetylcholine receptor genes as risk factors for
smoking in schizophrenia families.
This gene encodes a member of the epoxide hydrolase family. The protein,
found in both the cytosol and peroxisomes, binds to specific epoxides and
converts them to the corresponding dihydrodiols. Mutations in this gene
have been associated with familial hypercholesterolemia. Alternate
transcriptional splice variants of this gene have been observed but have not
been thoroughly characterized.
metal ion binding
protein bindimg
zinc ion binding
ATP binding
non-membrane spanning
protein tyrosine kinase
activity
nucleotide binding
protein bindimg
signal transducer
activity
transferase activity
acetylcholine receptor
activity
extracellular ligandgated ion channel
activity
ion channel activity
nicotinic acetylcholineactivated cationselective channel
activity
4nitrophenylphosphatase
activity
epoxide hydrolase
activity
hydrolase activity
magnesium ion binding
protein
homodimerization
activity
apoptosis
induction of apoptosis
negative regulation of cell
proliferation
apoptosis
cell adhesion
positive regulation of cell
proliferation
protein amino acid
phosphorylation
protein complex assembly
response to stress
signal complex assembly
signal transduction
ion transport
signal transduction
aromatic compound
catabolic process
cellular calcium ion
homeostasis
drug metabolic process
inflammatory response
linoleic acid metabolic
process
metabolic process
oxygen and reactive
oxygen species metabolic
process
positive regulation of
blood pressure
positive regulation of
cytoplasm
intracellular
nucleus
cytoplasm
cytoskeleton
focal adhesion
plasma membrane
cell
NAS
junction
PubMed
integral to membrane
nicotinic
acetylcholine-gated
receptor-channel
complex
plasma membrane
postsynaptic
membrane
synapse
Cytoplasm
cytosol
peroxisome
soluble fraction
IEA
42
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
vasodilation
prostaglandin production
during acute inflammatory
response
343
8p21.1
2749104527502507
GULOP:
gulonolactone (L)
oxidase
pseudogene
CLU: clusterin
344
8p21.1
2751036827528244
345
8p21.1
2754749627590205
SCARA3:
scavenger
receptor class A,
member 3
346
8p21.1
2757231427584362
347
8p21.1
2764675227686089
348
8p21.1
27723057-
LOC100129849:
hypothetical
protein
LOC100129849
CCDC25: coiledcoil domain
containing 25
PBK: PDZ
GULO; SCURVY
2989
pseudogene
AAG4, APOJ,
CLI, KUB1,
MGC24903, SGP2, SGP2, SP-40,
TRPM-2,
TRPM2; agingassociated protein
4; apolipoprotein
J; clusterin
(complement lysis
inhibitor, SP40,40, sulfated
glycoprotein 2,
testosteronerepressed prostate
message 2,
apolipoprotein J);
complement lysis
inhibitor;
complementassociated protein
SP-40; sulfated
glycoprotein 2;
testosteronerepressed prostate
message 2
APC7, CSR,
CSR1, MSLR1,
MSRL1; anaphase
promoting
complex subunit
7; cellular stress
response protein;
macrophage
scavenger
receptor-like 1
1191
185430
Protein
coding
May be a biomarker for longer survival in patients with surgically resected
non-small cell lung cancer. CLU gene expression might play a crucial role
in prostate tumorigenesis by exerting differential biological effects on
normal versus tumor cells through differential processing of CLU isoforms
in the two cell systems. Expression increases early after androgen
withdrawal in prostate cancer; protects tumor cells from apoptosis induced
by medical castration. Clusterin is strongly expressed in melanoma.
Downregulation of clusterin reduces drug-resistance, i.e., reduces
melanoma cell survival in response to cytotoxic drugs. Reducing clusterin
may be novel tool to overcome drug-resistance in melanoma.
protein bindimg
anti-apoptosis
apoptosis
cell death
complement activation,
classical pathway
endocrine pancreas
development
innate immune response
lipid metabolic process
neurite morphogenesis
positive regulation of cell
differentiation
positive regulation of cell
proliferation
response to oxidative stress
aggresome
extracellular region
extracellular space
perinuclear region of
cytoplasm
51435
602728
Protein
coding
This gene encodes a macrophage scavenger receptor-like protein. This
protein has been shown to deplete reactive oxygen species, and thus play an
important role in protecting cells from oxidative stress. The expression of
this gene is induced by oxidative stress. Alternatively spliced transcript
variants encoding distinct isoforms have been described. Down-regulation
of CSR1 protein expression by promoter methylation is associated with
tumor growth and metastasis of prostate cancer
scavenger receptor
activity
UV protection
phosphate transport
response to oxidative stress
Golgi apparatus
Golgi membrane
cytoplasm
endoplasmic reticulum
endoplasmic reticulum
membrane
integral to membrane
membrane
This genes encodes a serine/threonine kinase related to the dual specific
ATP binding
Mitosis
cellular_component
1001298
49
Protein
coding
FLJ10853
55246
Protein
coding
FLJ14385, Nori-
55872
611210
Protein
43
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
27751268
349
8p21.1
2775195227753854
binding kinase
LOC100130612:
hypothetical
LOC100130612
350
8p21.1
2768797727718344
ESCO2:
establishment of
cohesion 1
homolog 2
351
8p21.1
2778365527906117
352
8p21.1
2793554727997307
SCARA5:
scavenger
receptor class A,
member 5
(putative)
C8orf80:
chromosome 8
open reading
frame 80
353
2800664528104585
ELP3: elongation
protein 3 homolog
(S. cerevisiae)
3, SPK, TOPK;
MAPKK-like
protein kinase;
PDZ-binding
kinase; T-LAK
cell-originated
protein kinase;
serine/threonine
protein kinase;
spermatogenesisrelated protein
kinase
similar to TAF9
RNA polymerase
II, TATA box
binding protein
(TBP)-associated
factor
2410004I17Rik,
EFO2, RBS;
establishment of
cohesion 1
homolog 2
FLJ23907,
MGC45780, Tesr;
testis expressed
scavenger
receptor
FLJ26413,
HMFN0672;
hypothetical
protein
LOC389643
FLJ10422, KAT9;
elongation protein
3 homolog
coding
1001306
12
mitogen-activated protein kinase kinase (MAPKK) family. Evidence
suggests that mitotic phosphorylation is required for its catalytic activity.
This mitotic kinase may be involved in the activation of lymphoid cells and
support testicular functions, with a suggested role in the process of
spermatogenesis. PBK/TOPK is upregulated in Burkitt's lymphoma and
other highly proliferative malignant cells and during normal fetal
development. PBK augments tumor cell growth following transient
appearance in different types of progenitor cells in vivo as reported.
nucleotide binding
protein bindimg
protein serine/threonine
kinase activity
transferase activity
protein amino acid
phosphorylation
This gene encodes a protein that may have acetyltransferase activity and
may be required for the establishment of sister chromatid cohesion during
the S phase of mitosis. Mutations in this gene have been associated with
Roberts syndrome.
acyltransferase activity
metal ion binding
transferase activity
zinc ion binding
DNA repair
cell cycle
nucleus
scavenger receptor
activity
phosphate transport
cytoplasm
integral to membrane
plasma membrane
contributes_to DNA
binding
N-acetyltransferase
activity
contributes_to RNA
polymerase II
transcription elongation
factor activity
acyltransferase activity
histone acetyltransferase
activity
iron ion binding
iron-sulfur cluster
binding
metal ion binding
phosphorylase kinase
regulator activity
protein bindimg
transferase activity
metabolic process
regulation of transcription
from RNA polymerase II
promoter
transcription
DNA-directed RNA
polymerase II,
holoenzyme
cytoplasm
nucleolus
nucleus
transcription
elongation factor
complex
pseudogene
157570
609353
Protein
coding
286133
611306
Protein
coding
389643
Protein
coding
55140
Protein
coding
Reduction of hELP3 mRNA and protein caused a suppression of HSP70-2
and histone H3 hypoacetylation.
44
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
354
2813881628141043
LOC100131127:
hypothetical
LOC100131127
355
8p21.1
2815186628152442
356
8p21.1
2816349928252925
357
8p21.1
282305688256787
LOC100130891:
hypothetical
LOC100130891
LOC100129848:
hypothetical
protein
LOC100129848
PNOC:
epronociceptin
358
8p21.1
282590218299896
ZNF395: zinc
finger protein 395
359
8p21.1
2834184828403703
FBXO16: F-box
protein 16
360
8p21.1
2840769228477901
361
8p21.1
2861507228667121
similar to
Degenerative
spermatocyte
homolog 1, lipid
desaturase
similar to enigma
protein
hypothetical
protein
LOC100129848
1001311
27
pseudogene
1001308
91
pseudogene
Protein
coding
1001298
48
PPNOC;proprono
ciceptin
5368
601459
Protein
coding
Nciceptin/NociR is present and functional in human neutrophils, and the
results identify a novel dialogue pathway between neural and immune
tissues Peripheral blood levels are elevated in Wilson disease
neuropeptide hormone
activity
opioid peptide activity
DKFZp434K121,
HDBP2, PBF,
PRF-1, PRF1, Si1-8-14;
Huntington's
disease gene
regulatory regionbinding protein 2;
papillomavirus
regulatory factor
PRF-1
FBX16,
MGC125923,
MGC125924,
MGC125925; Fbox only protein
16
55893
609494
Protein
coding
PBF binds to SAP30 and represses transcription via recruitment of the
HDAC1 co-repressor complex. PBF is a new cellular factor mediating the
effects of PI3K/Akt signaling and 14-3-3 on cell growth. HDBP1 and
HDBP2 are novel transcription factors shuttling between nucleus and
cytoplasm and bind to the specific GCCGGCG, which is an essential ciselement for HD gene expression in neuronal cells
DNA binding
metal ion binding
zinc ion binding
157574
608519
Protein
coding
FZD3: frizzled
homolog 3
(Drosophila)
Fz-3, hFz3;
frizzled 3
7976
606143
Protein
coding
This gene encodes a member of the F-box protein family, members of
which are characterized by an approximately 40 amino acid motif, the Fbox. The F-box proteins constitute one of the four subunits of ubiquitin
protein ligase complex called SCFs (SKP1-cullin-F-box), which function in
phosphorylation-dependent ubiquitination. The F-box proteins are divided
into three classes: Fbws containing WD-40 domains, Fbls containing
leucine-rich repeats, and Fbxs containing either different protein-protein
interaction modules or no recognizable motifs. The protein encoded by this
gene belongs to the Fbx class.
This gene is a member of the frizzled gene family. Members of this family
encode seven-transmembrane domain proteins that are receptors for the
Wingless type MMTV integration site family of signaling proteins. Most
frizzled receptors are coupled to the beta-catenin canonical signaling
pathway. The function of this protein is unknown, although it may play a
role in mammalian hair follicle development.
Results suggested that the FZD3 gene might be involved in the
predisposition to schizophrenia
EXTL3: exostoses
(multiple)-like 3
DKFZp686C2342
, EXTR1,
KIAA0519, REG,
REGR, RPR,
2137
605744
Protein
coding
Increased expression of Reg genes, specifically Reg IV contribute to
adenoma formation and lead to increased resistance to apoptotic cell death
in colorectal cancer.
G-protein coupled
receptor activity
Wnt receptor activity
non-G-protein coupled
7TM receptor activity
protein bindimg
receptor activity
glucuronyl-galactosylproteoglycan 4-alpha-Nacetylglucosaminyltrans
ferase activity
neuropeptide signaling
pathway
sensory perception
signal transduction
synaptic transmission
regulation of transcription,
DNA-dependent
transcription
extracellular region
G-protein coupled receptor
protein signaling pathway
Wnt receptor signaling
pathway
cell proliferation
establishment of planar
polarity
inner ear morphogenesis
multicellular organismal
development
neural tube closure
apical part of cell
integral to plasma
membrane
membrane
cytoplasm
intracellular
nucleus
endoplasmic reticulum
endoplasmic reticulum
membrane
integral to membrane
45
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
botv; Reg
receptor
362
8p21.1
2867110528673700
LOC100130764:
hypothetical
protein
LOC100130764
INTS9: integrator
complex subunit 9
363
8p21.1
2868109928803398
364
8p21.1
2880414428965351
HMBOX1:
homeobox
containing 1
365
8p21.1
2898071529176560
KIF13B: kinesin
family member
13B
366
8p12
2924953029264104
DUSP4: dual
specificity
phosphatase 4
367
8p12
2926585529266600
368
8p12
2954552629546104
369
8p12
3000597130006160
LOC100132051:
hypothetical
protein
LOC100132051
LOC646909:
similar to 60S
ribosomal protein
L17 (L23)
MAP2K1P1:
mitogen-activated
protein kinase
kinase 1
manganese ion binding
metal ion binding
transferase activity,
transferring glycosyl
groups
hypothetical
protein
LOC100130764
1001307
64
CPSF2L,
FLJ10871, RC74, RC74; related
to CPSF subunits
74 kDa
FLJ21616,
HNF1LA,
PBHNF;
homeoboxcontaining protein
PBHNF
GAKIN,
KIAA0639:
guanylate kinase
associated
kinesin; kinesin
13B
HVH2, MKP-2,
MKP2, TYP;
MAP kinase
phosphatase 2;
VH1 homologous
phosphatase 2;
serine/threonine
specific protein
phosphatase
55756
membrane
Protein
coding
611352
79618
Protein
coding
contributes_to protein
bindimg
snRNA processing
integrator complex
nucleus
Protein
coding
Hmbox1 is widely expressed in pancreas and the expression of this gene
can also be detected in pallium, hippocampus and hypothalamus
sequence-specific DNA
binding
transcription factor
activity
regulation of transcription,
DNA-dependent
nucleus
Binding of the SH3-I3-GUK module of hDlg to GAKIN activates the
microtubule-stimulated ATPase activity of GAKIN by approximately 10fold. We propose: the cargo-mediated regulation of motor activity is a
general paradigm for the activation of kinesins.
Results suggest that, in neurons, the GAKIN-PIP3BP complex transports
PIP3 to the neurite ends and regulates neuronal polarity formation.
The protein encoded by this gene is a member of the dual specificity protein
phosphatase subfamily. These phosphatases inactivate their target kinases
by dephosphorylating both the phosphoserine/threonine and
phosphotyrosine residues. They negatively regulate members of the
mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK,
SAPK/JNK, p38), which are associated with cellular proliferation and
differentiation. Different members of the family of dual specificity
phosphatases show distinct substrate specificities for various MAP kinases,
different tissue distribution and subcellular localization, and different modes
of inducibility of their expression by extracellular stimuli. This gene
product inactivates ERK1, ERK2 and JNK, is expressed in a variety of
tissues, and is localized in the nucleus. Two alternatively spliced transcript
variants, encoding distinct isoforms, have been observed for this gene. In
addition, multiple polyadenylation sites have been reported.
ATP binding
microtubule motor
activity
nucleotide binding
protein bindimg
protein kinase binding
MAP kinase
tyrosine/serine/threonine
phosphatase activity
hydrolase activity
protein tyrosine
phosphatase activity
protein
tyrosine/threonine
phosphatase activity
T cell activation
microtubule-based
movement
protein targeting
signal transduction
cytoplasm
cytoskeleton
microtubule
microtubule associated
complex
MAPKKK cascade
protein amino acid
dephosphorylation
nucleus
23303
607350
Protein
coding
1846
602747
Protein
coding
1001320
51
Protein
coding
646909
pseudogene
29778
pseudogene
46
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
pseudogene 1
TMEM66:
transmembrane
protein 66
LEPROTL: leptin
receptor
overlapping
transcript-like 1
LOC648729:
similar to
ribosomal protein
S15a
MBOAT4:
membrane bound
O-acyltransferase
domain
containing 4
370
8p12
3004017330060191
371
8p12
3007248730085122
372
8p12
3009439630094847
373
8p12
3010872930110011
374
8p12
3013335530160602
DCTN6: dynactin
6
375
8p12
3021433830218055
376
8p12
3022656030254863
377
8p12
3030837530330600
378
8p12
3030901930309335
379
8p12
3031513330336791
380
8p12
3036018830367557
381
8p12
3036148630549276
LOC392209:
similar to heat
shock protein 8
LOC642319:
similar to
transgelin 2
LOC92755:
hypothetical gene
LOC92755
LOC100128441:
hypothetical
LOC100128441
LOC100131210:
hypothetical
protein
LOC100131210
LOC100128750:
hypothetical
protein
LOC100128750
RBPMS: RNA
binding protein
with multiple
splicing
FLJ22274, FOAP7, HSPC035,
MGC8721, XTP3
HSPC112, Vps55,
my047
51669
23484
607338
Protein
coding
Integral to membrane
membrane
Protein
coding
Integral to membrane
membrane
648729
pseudogene
FKSG89,
OACT4; Oacyltransferase
(membrane
bound) domain
containing 4
S-3; novel RGDcontaining protein
619373
Protein
coding
10671
Protein
coding
similar to heat
shock cognate
protein 70
similar to
KIAA0120
392209
pseudogene
642319
pseudogene
92755
unknown
1001284
41
pseudogene
similar to Gtf2a2
protein
1001287
50
11030
Integral to membrane
membrane
The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in
the N-terminal region, which confers adhesive properties to macromolecular
proteins like fibronectin. It shares a high degree of sequence similarity with
the mouse homolog, which has been suggested to play a role in
mitochondrial biogenesis. The exact biological function of this gene is not
known.
acyltransferase activity
dynein binding
transferase activity
cytoplasm
cytoskeleton
dynactin complex
This gene encodes a member of the RRM family of RNA-binding proteins.
The RRM domain is between 80-100 amino acids in length and family
members contain one to four copies of the domain. The RRM domain
consists of two short stretches of conserved sequence called RNP1 and
RNP2, as well as a few highly conserved hydrophobic residues. The protein
encoded by this gene has a single, putative RRM domain in its N-terminus.
Alternative splicing results in multiple transcript variants encoding different
RNA binding
Nucleotide binding
Protein bindimg
Protein
coding
1001312
10
HERMES; RNAbinding protein
with multiple
splicing
acyltransferase activity
transferase activity
unknown
601558
Protein
coding
RNA processing
47
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
isoforms.
382
8p12
3054523330547826
LOC100129846:
hypothetical
protein
LOC100129846
GTF2E2: general
transcription
factor IIE,
polypeptide 2,
beta 34kDa
383
8p12
3055557330635274
384
8p12
3065597730704985
GSR: glutathione
reductase
385
8p12
3072123230744064
UBXD6: UBX
domain
containing 6
1001298
46
Protein
coding
E, TF2E2, TFIIEB; general
transcription
factor IIE,
polypeptide 2
(beta subunit,
34kD)
MGC78522
2961
189964
Protein
coding
Introduced point mutations into two regions located near the carboxy
terminus of TFIIE beta and identified the functionally essential amino acid
residues that bind to RNA polymerase II
general RNA
polymerase II
transcription factor
activity
protein bindimg
regulation of transcription,
DNA-dependent
transcription
transcription initiation from
RNA polymerase II
promoter
nucleus
transcription factor
TFIIE complex
2936
138300
Protein
coding
Malignant lung tumors (squamous cell carcinoma and adenocarcinoma) had
increased activity of this enzyme.
Decreased activities of erythrocyte glutathione reductase is associated with
cerebral palsy
FAD binding
NADP binding
glutathione-disulfide
reductase activity
cytoplasm
mitochondrion
D8S2298E,
REP8,
Reproduction/chr
omosome 8;
reproduction 8
PP2CB, PP2Abeta; protein
phosphatase 2,
catalytic subunit,
beta isoform;
protein
phosphatase type
2A catalytic
subunit;
serine/threonine
protein
phosphatase 2A,
catalytic subunit,
beta isoform
DKFZP434M241
5
7993
602155
Protein
coding
cell redox homeostasis
electron transport
glutathione metabolic
process
single fertilization
5516
176916
Protein
coding
This gene encodes the phosphatase 2A catalytic subunit. Protein
phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is
implicated in the negative control of cell growth and division. It consists of
a common heteromeric core enzyme, which is composed of a catalytic
subunit and a constant regulatory subunit, that associates with a variety of
regulatory subunits. This gene encodes a beta isoform of the catalytic
subunit. Two transcript variants encoding the same protein have been
identified for this gene.
hydrolase activity
iron ion binding
manganese ion binding
metal ion binding
phosphoprotein
phosphatase activity
protein bindimg
protein amino acid
dephosphorylation
cytoplasm
protein phosphatase
type 2A complex
56154
605795
Protein
coding
The exact function of this gene is not known, however, its encoded product
is highly similar to purine-rich element binding protein A. The latter is a
DNA-binding protein which binds preferentially to the single strand of the
purine-rich element termed PUR, and has been implicated in the control of
both DNA replication and transcription. This gene lies in close proximity to
the Werner syndrome gene, but on the opposite strand, on chromosome
8p11. Two transcript variants encoding different isoforms have been found
for this gene.
This gene encodes a member of the RecQ subfamily and the DEAH (AspGlu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are
involved in many aspects of DNA metabolism, including transcription,
DNA binding
386
8p12
3076266830789894
PPP2CB: protein
phosphatase 2
(formerly 2A),
catalytic subunit,
beta isoform
387
8p12
3080860230826075
TEX15: testis
expressed 15
388
8p12
3096051430972106
similar to
KIAA0205
1001293
98
pseudogene
389
8p12
3097286331010773
LOC100129398:
hypothetical
LOC100129398
PURG: purinerich element
binding protein G
MGC119274,
PURG-A, PURGB
29942
Protein
coding
390
8p12
3101032031150819
WRN: Werner
syndrome
KFZp686C2056,
RECQ3,
RECQL2,
7486
Protein
coding
3'-5' exonuclease
activity
ATP binding
nucleus
DNA recombination
DNA replication
multicellular organismal
intracellular
nucleolus
nucleoplasm
48
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
RECQL3
391
8p12
3119524031198134
392
8p12
3161704331618101
LOC642513:
similar to
potassium channel
tetramerisation
domain
containing
NRG1: neuregulin
1
3252529532741615
393
8p12
3214825232151311
394
8p12
3274426132745017
395
8p12
3334788433450206
LOC100127894:
hypothetical
protein
LOC100127894
LOC100129710:
similar to
MSTP131
FUT10 :
fucosyltransferase
642513
RIA, GGF,
GGF2, HGL,
HRG, HRG1,
HRGA, NDF,
SMDF; glial
growth factor;
heregulin, alpha
(45kD, ERBB2
p185-activator);
neu differentiation
factor; sensory
and motor neuron
derived factor
3084
1001278
94
MSTP131
MGC11141;
alpha 1,3-fucosyl
1001297
10
84750
replication, recombination, and repair. This protein contains a nuclear
localization signal in the C-terminus and shows a predominant nucleolar
localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is
also a 3' to 5' exonuclease. Based on interactions between this protein and
Ku70/80 heterodimer in DNA end processing, this protein may be involved
in the repair of double strand DNA breaks. Defects in this gene are the
cause of werner syndrome, an autosomal recessive disorder characterized by
premature aging.
Dual role for WRN in tumorigenesis; tumor suppressor-like activity in
tumors with WRN inactivation and the promotion of proliferation and
survival in tumors that express WRN.
WRN missense mutations or polymorphisms could promote genetic
instability and cancer in the general population by selectively interfering
with recombination in somatic cells
ATP-dependent helicase
activity
DNA binding
DNA helicase activity
hydrolase activity
nucleotide binding
protein bindimg
aging
nucleobase, nucleoside,
nucleotide and nucleic acid
metabolic process
regulation of apoptosis
regulation of growth rate
replicative cell aging
telomere maintenance
nucleus
Neuregulin 1 (NRG1) was originally identified as a 44-kD glycoprotein that
interacts with the NEU/ERBB2 receptor tyrosine kinase to increase its
phosphorylation on tyrosine residues. It is known that an extraordinary
variety of different isoforms are produced from the NRG1 gene by
alternative splicing. These isoforms include heregulins (HRGs), glial
growth factors (GGFs) and sensory and motor neuron-derived factor
(SMDF). They are tissue-specifically expressed and differ significantly in
their structure. The HRG isoforms all contain immunoglobulin (Ig) and
epidermal growth factor-like (EGF-like) domains. GGF and GGF2 isoforms
contain a kringle-like sequence plus Ig and EGF-like domains; and the
SMDF isoform shares only the EGF-like domain with other isoforms. The
receptors for all NRG1 isoforms are the ERBB family of tyrosine kinase
transmembrane receptors. Through interaction with ERBB receptors, NRG1
isoforms induce the growth and differentialtion of epithelial, neuronal, glial,
and other types of cells.
NRG1 was expressed in 80% of breast cancers studied. Study provides
additional suggestive evidence for both the linkage and association of
schizophrenia with NRG1. The molecular mechanism of the association
between NRG1 risk alleles and schizophrenia may include down-regulation
of nAChR alpha7 expression.
Results indicate that GGF2 is neurotrophic and neuroprotective for
developing dopaminergic neurons and suggest a role for NRGs in repair of
the damaged nigrostriatal system that occurs in Parkinson's disease.
ErbB-3 class receptor
binding
growth factor activity
growth factor activity
molecular_function
receptor tyrosine kinase
binding
transcription cofactor
activity
transmembrane receptor
protein tyrosine kinase
activator activity
cell differentiation
cellular protein complex
disassembly
embryonic development
glucose transport
myelination
negative regulation of
transcription
nervous system
development
regulation of blood pressure
extracellular region
integral to membrane
membrane
nucleus
pseudogene
142445
Protein
coding
Protein
coding
molecular_function
biological_process
protein transport
cellular_component
integral
IEA to membrane
Protein
coding
Protein
coding
amino acid sequence
alpha(1,3)fucosyltransferase
L-fucose catabolic process
embryonic development
Golgi apparatus
integral to membrane
49
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
396
8p12
3341332533413760
397
8p12
3346225933478318
398
8p12
3347577533490245
10 (alpha (1,3)
fucosyltransferase
)
transferase;
fucosyltransferase
10
LOC100132576:
hypothetical
LOC100132576
RBM13: RNA
binding motif
protein 13
C8orf41:
chromosome 8
open reading
frame 41
SNORD13: small
nucleolar RNA,
C/D box 13
RNF122: ring
finger protein 122
similar to Neosin
1001325
76
pseudogene
MAK16;
MAK16L
84549
Protein
coding
399
8p12
3349053533490638
400
8p12
3352481533544185
401
8p12
3356839333576981
DUSP26: dual
specificity
phosphatase 26
(putative)
402
8p12
3369934633700138
VENTXP5:
VENT homeobox
(Xenopus laevis)
pseudogene 5
403
8p12
3383644033837283
LOC388460:
hypothetical
FLJ23263,
hypothetical
protein
LOC80185
U13
activity
transferase activity,
transferring glycosyl
groups
80185
membrane
Protein
coding
692084
snoRNA
FLJ12526,
MGC126622
79845
Protein
coding
The protein encoded by this gene contains a RING finger, a motif present in
a variety of functionally distinct proteins and known to be involved in
protein-protein and protein-DNA interactions.
metal ion binding
protein bindimg
zinc ion binding
DUSP24, LDP-4,
MGC1136,
MGC2627,
MKP8, NATA1,
SKRP3: Novel
amplified gene in
thyroid anaplastic
cancer; dual
specificity
phosphatase 26;
dual-specificity
phosphatase
SKRP3; lowmolecular-mass
dual-specificity
phosphatase 4;
mitogen-activated
protein kinase
phosphatase 8
78986
Protein
coding
DUSP26 effectively dephosphorylates p38 and has a little effect on
extracellular signal-regulated kinase in anaplastic thyroid cancer.
hydrolase activity
protein tyrosine
phosphatase activity
protein
tyrosine/serine/threonine
phosphatase activity
442384
pseudogene
Homeobox genes encode DNA-binding proteins, many of which are
thought to be involved in early embryonic development. Homeobox genes
encode a DNA-binding domain of 60 to 63 amino acids referred to as the
homeodomain. This pseudogene is a member of the Vent homeobox gene
family.
388460
pseudogene
similar to
SHUJUN-2
fertilization
hemopoiesis
nervous system
development
protein amino acid
glycosylation
protein folding
protein targeting
wound healing
protein amino acid
dephosphorylation
Golgi apparatus
endoplasmic reticulum
integral to membrane
membrane
Golgi apparatus
cytoplasm
nucleus
50
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
LOC388460
CYCSP3:
cytochrome c,
somatic
pseudogene 3
LOC137107:
similar to
ribosomal protein
L10a
LOC100133273:
similar to
hCG2016451
LSM12P: LSM12
homolog (S.
cerevisiae)
pseudogene
UNC5D:unc-5
homolog D (C.
elegans)
404
8p12
3394662133946938
405
8p12
3430005534300702
406
8p12
3485117634851771
407
8p12
408
8p12
3552145235771722
409
8p12
3676100036912801
410
8p12
3677193936772643
411
8p12
412
8p12
3686515536865986
3706045537073080
413
8p12
3745237137537046
414
8p12
3767245937675554
KCNU1:
potassium
channel,
subfamily U,
member 1
MRPS7P1:
mitochondrial
ribosomal protein
S7 pseudogene 1
FKSG2: apoptosis
inhibitor
LOC642879:
similar to
SWI/SNF related,
matrix associated,
actin dependent
regulator of
chromatin,
subfamily e,
member 1
LOC100128034:
hypothetical
protein
LOC100128034
ZNF703: zinc
finger protein 703
415
8p12
3771330737734476
ERLIN2: ER lipid
raft associated 2
3550065935502834
HS7; HCP21
349198
pseudogene
137107
Protein
coding
1001332
73
pseudogene
653122
pseudogene
137970
Protein
coding
157855
Protein
coding
359783
pseudogene
59347
642879
Protein
coding
pseudogene
1001280
34
Protein
coding
FLJ14299,
ZNF503L
80139
Protein
coding
C8orf2, Erlin-2,
MGC87072,
SPFH2: SPFH
11160
FLJ16019,
KIAA1777,
PRO34692,
Unc5h4: netrin
receptor Unc5h4
KCNMC1,
KCa5.1, Kcnma3,
Slo3
611605
Protein
coding
The human genome has 49 cytochrome c pseudogenes, including a relic of a
primordial gene that still functions in mouse. The human somatic
cytochrome c gene: two classes of processed pseudogenes demarcate a
period of rapid molecular evolution.
protein bindimg
receptor activity
SPFH2 as a key endoplasmic reticulum associated degradation pathway
component and suggest that it may act as a substrate recognition factor.
Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins
metal ion binding
nucleic acid binding
zinc ion binding
molecular_function
Apoptosis
multicellular organismal
development
signal transduction
integral to membrane
membrane
apoptosis
cytoplasm
regulation of transcription,
DNA-dependent
transcription
biological_process
Intracellular
nucleus
endoplasmic reticulum
endoplasmic reticulum
membrane
51
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
416
3772401137724679
LOC728024:
hypothetical
protein
LOC100128034
PROSC: proline
synthetase cotranscribed
homolog
(bacterial)
417
8p12
3773883337756444
418
8p12
3777393237820650
GPR124: G
protein-coupled
receptor 124
419
8p12
3782055837826569
RF2: BRF2,
subunit of RNA
polymerase III
transcription
initiation factor,
BRF1-like
420
8p12
3783562837876161
RAB11FIP1:
RAB11 family
interacting protein
1 (class I)
421
8p12
3791095737916804
GOT1L1:
glutamicoxaloacetic
transaminase 1like 1
domain family,
member 2
hCG1640171
FLJ11861:
proline synthetase
co-transcribed
(bacterial
homolog); proline
synthetase cotranscribed
homolog
DKFZp434C211,
DKFZp434J0911,
FLJ14390,
KIAA1531,
TEM5: tumor
endothelial
marker 5
BRFU, FLJ11052,
TFIIIB50: RNA
polymerase III
transcription
initiation factor
BRF2; RNA
polymerase III
transcription
initiation factor
BRFU;
transcription
factor IIB- related
factor, TFIIIB50
DKFZp686E2214
, FLJ22524,
FLJ22622,
MGC78448,
NOEL1A, RCP,
rab11-FIP1:
RAB11 coupling
protein; RAB11
family interacting
protein 1; Rab
effector protein;
Rab-interacting
recycling protein
MGC33309
that define lipid-raft-like domains of the ER.
integral to membrane
membrane
LOC728
024
Protein
coding
11212
604436
Protein
coding
25960
606823
Protein
coding
Proteolytically processed soluble tumor endothelial marker TEM5 mediates
endothelial cell survival during angiogenesis by linking integrin
alpha(v)beta3 to glycosaminoglycans
G-protein coupled
receptor activity
protein bindimg
receptor activity
neuropeptide signaling
pathway
signal transduction
integral to membrane
membrane
plasma membrane
55290
607013
Protein
coding
This gene encodes one of the multiple subunits of the RNA polymerase III
transcription factor complex required for transcription of genes with
promoter elements upstream of the initiation site. The product of this gene,
a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III
small nuclear RNA gene promoters through its interaction with the TATAbinding protein.
protein bindimg
transcription regulator
activity
translation initiation
factor activity
zinc ion binding
regulation of transcription,
DNA-dependent
transcription initiation
transcription factor
complex
80223
608737
Protein
coding
Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have
regulatory roles in the formation, targeting, and fusion of intracellular
transport vesicles. RAB11FIP1 is one of many proteins that interact with
and regulate Rab GTPases
protein bindimg
protein transport
cytoplasmic vesicle
membrane recycling
endosome
Protein
coding
Neither human hexokinase-1 nor human inorganic pyrophosphatase
expression segregated concordantly with human cytoplasmic glutamicoxaloacetic transaminase expression.
catalytic activity
pyridoxal phosphate
binding transaminase
activity
amino acid metabolic
process biosynthetic
process
137362
cytoplasm
intracellular
52
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
422
8p12
3793967337943341
ADRB3:
adrenergic, beta3-, receptor
BETA3AR
155
109691
Protein
coding
The ADRB3 gene product, beta-3-adrenergic receptor, is located mainly in
adipose tissue and is involved in the regulation of lipolysis and
thermogenesis. Beta adrenergic receptors are involved in the epenephrine
and norepinephrine-induced activation of adenylate cyclase through the
action of G proteins.
423
8p12
3800717738037040
EIF4EBP1:
eukaryotic
translation
initiation factor
4E binding
protein 1
4EBP1, BP-1,
MGC4316,
PHAS-I, eIF4Ebinding protein 1;
phosphorylated
heat- and acidstable protein
regulated by
insulin 1
1978
602223
Protein
coding
424
8p12
3808222338116216
ASH2L: ash2
(absent, small, or
homeotic)-like
(Drosophila)
ASH2, ASH2L1,
ASH2L2, Bre2:
ash2-like
9070
604782
Protein
coding
This gene encodes one member of a family of translation repressor proteins.
The protein directly interacts with eukaryotic translation initiation factor 4E
(eIF4E), which is a limiting component of the multisubunit complex that
recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this
protein with eIF4E inhibits complex assembly and represses translation.
This protein is phosphorylated in response to various signals including UV
irradiation and insulin signaling, resulting in its dissociation from eIF4E and
activation of mRNA translation. Phosphorylated 4E-BP1 (p-4E-BP1)
expression in tumors is associated with malignant progression and an
adverse prognosis regardless of the upstream oncogenic alterations. In
patients with ovarian carcinoma, significant expression of p-4EBP1 was
associated with high-grade tumors and a poor prognosis, regardless other
oncogenic alterations upstream.
Findings offer insight into the molecular role of ASH2L, and by extension
that of WDR5, in proper H3K4 trimethylation.
425
8p12
3814001438153183
LSM1: LSM1
homolog, U6
small nuclear
RNA associated
(S. cerevisiae)
CASM, YJL124C
27257
607281
Protein
coding
426
8p12
3811937538127757,
STAR:
steroidogenic
acute regulatory
protei
TARD1: START
domain
containing 1;
StAR-related lipid
transfer (START)
domain
6770
600617
Protein
coding
m-like proteins contain the Sm sequence motif, which consists of 2 regions
separated by a linker of variable length that folds as a loop. The Sm-like
proteins are thought to form a stable heteromer present in tri-snRNP
particles, which are important for pre-mRNA splicing. LSM1 is a breast
cancer oncogene from the 8p11-12 amplicon. Lsm1 is deeply involved in
prostate cancer progression through its down-regulation, independent of any
gene mutation.
The protein encoded by this gene plays a key role in the acute regulation of
steroid hormone synthesis by enhancing the conversion of cholesterol into
pregnenolone. This protein permits the cleavage of cholesterol into
pregnenolone by mediating the transport of cholesterol from the outer
mitochondrial membrane to the inner mitochondrial membrane. Mutations
in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH),
beta3-adrenergic
receptor activity
contributes_to
norepinephrine binding
protein
homodimerization
activity
receptor activity
rhodopsin-like receptor
activity
G-protein signaling,
coupled to cAMP
nucleotide second
messenger
adenylate cyclase activation
NOT arrestin mediated
desensitization of G-protein
coupled receptor protein
signaling pathway
carbohydrate metabolic
process
energy reserve metabolic
process
generation of precursor
metabolites and energy
positive regulation of
MAPKKK cascade
NOT receptor-mediated
endocytosis
signal transduction
insulin receptor signaling
pathway
negative regulation of
translational initiation
integral to plasma
membrane
plasma membrane
receptor complex
DNA binding
metal ion binding
protein bindimg
transcription regulator
activity
zinc ion binding
RNA splicing factor
activity,
transesterification
mechanism
protein bindimg
hemopoiesis
regulation of transcription,
DNA-dependent
transcription transcription
from RNA polymerase II
promoter
RNA splicing
mRNA processing
histone
methyltransferase
complex
nucleus
cholesterol binding
cholesterol transporter
activity
lipid binding
C21-steroid hormone
biosynthetic process
lipid transport
steroid biosynthetic process
mitochondrion
eukaryotic initiation
factor 4E binding
protein binding
cytosol
nucleus
ribonucleoprotein
complex
53
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
427
8p12
3815326338187694
BAG4:
BCL2associated
athanogene 4
428
8p12
3820826438238143
DDHD2: DDHD
domain
containing 2
429
8p12
3824141438245872
430
8p12
3825171738358947
PPAPDC1B:
phosphatidic acid
phosphatase type
2 domain
containing 1B
WHSC1L1:
Wolf-Hirschhorn
syndrome
candidate 1-like 1
431
8p12
3836317738385218
LETM2: leucine
zipper-EF-hand
containing 1;
cholesterol
trafficker;
mitochondrial
steroid acute
regulatory
protein; steroid
acute regulatory
protein;
steroidogenic
acute regulator
BAG-4, SODD:
BAG-family
molecular
chaperone
regulator-4;
silencer of death
domains
also called lipoid CAH. A pseudogene of this gene is located on
chromosome 13.
9530
603884
Protein
coding
The protein encoded by this gene is a member of the BAG1-related protein
family. BAG1 is an anti-apoptotic protein that functions through
interactions with a variety of cell apoptosis and growth related proteins
including BCL-2, Raf-protein kinase, steroid hormone receptors, growth
factor receptors and members of the heat shock protein 70 kDa family. This
protein contains a BAG domain near the C-terminus, which could bind and
inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be
associated with the death domain of tumor necrosis factor receptor type 1
(TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates
downstream cell death signaling. The regulatory role of this protein in cell
death was demonstrated in epithelial cells which undergo apoptosis while
integrin mediated matrix contacts are lost.
anti-apoptosis
apoptosis
protein folding
cytoplasm
hydrolase activity
metal ion binding
lipid catabolic process
cytoplasm
KIAA0725,
SAMWD1: PAPLA1 like; SAM,
WWE and DDHD
domain
containing 1;
sec23p-interacting
protein p125-like
phosphatidic acidpreferring
phospholipase A1
DPPL1, HTPAP:
diacylglycerol
pyrophosphate
like 1
23259
84513
610626
Protein
coding
DPPL1 and DPPL2 represent a novel type of mammalian phosphatidate
phosphatase.
HTPAP is a novel metastatic suppressor gene for hepatocellular carcinoma
catalytic activity
hydrolase activity
cell cycle negative
regulation of cell cycle
integral to membrane
membrane
DKFZp667H044,
FLJ20353,
MGC126766,
MGC142029,
NSD3, pp14328:
WHSC1L1
protein; WolfHirschhorn
syndrome
candidate 1-like 1
protein
FLJ25409:
leucine zipper-
54904
607083
Protein
coding
This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and
encodes a protein with PWWP (proline-tryptophan-tryptophan-proline)
domains. The function of the protein has not been determined. Two
alternatively spliced variants have been described.
histone-lysine Nmethyltransferase
activity
metal ion binding
methyltransferase
activity protein bindimg
transferase activity
zinc ion binding
cell differentiation cell
growth chromatin
modification histone
methylation
regulation of transcription,
DNA-dependent
transcription
nucleus
137994
Protein
coding
protein bindimg receptor
signaling protein activity
Protein
coding
integral to membrane
membrane
54
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
containing
transmembrane
protein 2
432
8p12
3838944938445293
433
8p12
434
8p12
3857684838577932
435
8p12
3868766838722137
436
8p11.2
3
3876393838829703
437
8p11.2
3
3887798638946459
3848750938505337
FGFR1: fibroblast
growth
factor
receptor 1 (fmsrelated
tyrosine
kinase 2, Pfeiffer
syndrome)
FLJ43582:
FLJ43582 protein
RNF5P1: ring
finger protein 5
pseudogene 1
LOC100131277:
hypothetical
protein
LOC100131277
TACC1:
transforming,
acidic coiled-coil
containing protein
1
PLEKHA2:
pleckstrin
homology domain
containing, family
A
(phosphoinositide
binding specific)
member 2
EF-hand
containing
transmembrane
protein 1-like
protein
BFGFR, CD331,
CEK, FGFBR,
FLG, FLT2,
HBGFR, KAL2,
N-SAM: FMSlike tyrosine
kinase 2; basic
fibroblast growth
factor receptor 1;
fibroblast growth
factor receptor 1;
fms-related
tyrosine kinase-2;
heparin-binding
growth factor
receptor;
hydroxyarylprotein kinase
hypothetical
protein
LOC389649
mitochondrial
membrane
mitochondrion
2260
136350
389649
The protein encoded by this gene is a member of the fibroblast growth
factor receptor (FGFR) family, where amino acid sequence is highly
conserved between members and throughout evolution. FGFR family
members differ from one another in their ligand affinities and tissue
distribution. A full-length representative protein consists of an extracellular
region, composed of three immunoglobulin-like domains, a single
hydrophobic membrane-spanning segment and a cytoplasmic tyrosine
kinase domain. The extracellular portion of the protein interacts with
fibroblast growth factors, setting in motion a cascade of downstream
signals, ultimately influencing mitogenesis and differentiation. This
particular family member binds both acidic and basic fibroblast growth
factors and is involved in limb induction. Mutations in this gene have been
associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler
syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann
syndrome 2. Chromosomal aberrations involving this gene are associated
with stem cell myeloproliferative disorder and stem cell leukemia
lymphoma syndrome. Alternatively spliced variants which encode different
protein isoforms have been described; however, not all variants have been
fully characterized. HFGFR1 was expressed primarily in the ventricular
zone embryologically
ATP binding fibroblast
growth factor receptor
activity
fibroblast growth factor
receptor activity
heparin binding
nucleotide binding
protein bindimg
receptor activity
transferase activity
MAPKKK cascade
cell growth fibroblast
growth factor receptor
signaling pathway
protein amino acid
phosphorylation
skeletal developmenT
integral to plasma
membrane
membrane membrane
fraction
The function of this gene has not yet been determined; however, it is
speculated that it may represent a breast cancer candidate gene. It is located
close to FGFR1 on a region of chromosome 8 that is amplified in some
breast cancers.
Down regulation of tacc1 controls mrna homeostasis in polarized cells and
participates in oncogenic processes in human cancers
protein bindimg
cell cycle cell division
cytoplasm nucleus
phosphatidylinositol
binding phospholipid
binding
biological_process
cellular_component
cytoplasm nucleus
plasma membran
Protein
coding
pseudogene
286140
1001312
77
DKFZp686K1812
6, Ga55,
KIAA1103:
transforming,
acidic coiled-coil
containing protein
1 variant TACC1B
FLJ25921,
TAPP2:
pleckstrin
homology
domaincontaining, family
A
(phosphoinositide
binding specific)
Protein
coding
unknown
6867
605301
Protein
coding
59339
607773
Protein
coding
55
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
438
8p11.2
3
3895085438964801
HTRA4: HtrA
serine peptidase 4
439
8p11.2
3
3896548438973198
TM2D2: TM2
domain
containing 2
440
8p11.2
3
3897366239081937
441
8p11.2
3
442
member 2;
tandem PH
Domain
containing
protein-2
FLJ90724
203100
610700
Protein
coding
FLJ90724 or HTRA4 is a member of the HtrA family of proteases
BLP1,
MGC125813,
MGC125814:
BBP-like protein
1; TM2 domain
containing 2,
isoform a
83877
610081
Protein
coding
ADAM9: ADAM
metallopeptidase
domain 9 (meltrin
gamma)
KIAA0021,
MCMP, MDC9,
Mltng
8754
602713
protein
coding
3908432539261593
ADAM32:
ADAM
metallopeptidase
domain 32
203102
Protein
coding
8p11.2
3
3913421439135377
1001290
04
pseudogene
443
8p11.2
3
3929130839394054
LOC100129004:
hypothetical
LOC100129004
ADAM5P:
ADAM
metallopeptidase
domain 5
pseudogene
FLJ26299,
FLJ29004: a
disintegrin and
metalloprotease
domain 32; a
disintegrin and
metalloproteinase
domain 32;
metalloproteinase
12-like protein
similar to
ribosomal protein
L3
ADAM5,
TMDCII
The protein encoded by this gene contains a structural module related to
that of the seven transmembrane domain G protein-coupled receptor
superfamily. This protein has sequence and structural similarities to the
beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a
response to beta-amyloid peptide. This protein may have regulatory roles in
cell death or proliferation signal cascades. This gene has multiple
alternatively spliced transcript variants which encode two different
isoforms.
This gene encodes a member of the ADAM (a disintegrin and
metalloprotease domain) family. Members of this family are membraneanchored proteins structurally related to snake venom disintegrins, and have
been implicated in a variety of biological processes involving cell-cell and
cell-matrix interactions, including fertilization, muscle development, and
neurogenesis. The protein encoded by this gene interacts with SH3 domaincontaining proteins, binds mitotic arrest deficient 2 beta protein, and is also
involved in TPA-induced ectodomain shedding of membrane-anchored
heparin-binding EGF-like growth factor. Two alternative splice variants
have been identified, encoding distinct isoforms. ADAM9 overexpression
enhances cell adhesion and invasion of non-small cell lung cancer cells via
modulation of other adhesion molecules and changes in sensitivity to
growth factors, thereby promoting metastatic capacity to the brain.
This gene encodes a member of the ADAM (a disintegrin and
metalloprotease domain) family. Members of this family are membraneanchored proteins structurally related to snake venom disintegrins, and have
been implicated in a variety of biological processes involving cell-cell and
cell-matrix interactions, including fertilization, muscle development, and
neurogenesis.
255926
Protein
coding
444
8p11.2
2
3942772139499524
ADAM3,
CYRN1, tMDCI
1587
pseudogene
ADAM3A:
ADAM
metallopeptidase
This gene encodes a member of the ADAM (a disintegrin and
metalloprotease domain) family. Members of this family are membraneanchored proteins structurally related to snake venom disintegrins, and have
been implicated in a variety of biological processes involving cell-cell and
cell-matrix interactions, including fertilization, muscle development, and
neurogenesis.
Human cyritestin genes (CYRN1 and CYRN2) are non-functional. The
gene for the human tMDC I sperm surface protein is non-functional:
implications for its proposed role in mammalian sperm-egg recognition.
peptidase activity
protein bindimg serinetype endopeptidase
activity
proteolysis
integral to membrane
membrane
SH3 domain binding
integrin binding
metal ion binding
metalloendopeptidase
activity
protein binding
protein kinase binding
zinc ion binding
protein kinase cascade
proteolysis
extracellular region
integral to plasma
membrane
plasma membrane
metalloendopeptidase
activity
zinc ion binding
metalloendopeptidase
activity zinc ion binding
proteolysis
56
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
domain 3A
(cyritestin 1)
LOC100130964:
similar to
hCG2045185
ADAM18:
ADAM
metallopeptidase
domain 18
445
8p11.2
2
3954991239556810
1001309
64
Protein
coding
446
8p11.2
2
3956129939706644
ADAM27,
MGC41836,
MGC88272,
tMDCIII
8749
Protein
coding
447
8p11.2
2
397204119814936
ADAM2: ADAM
metallopeptidase
domain 2 (fertilin
beta)
CRYN1, CRYN2,
FTNB, PH-30b,
PH30: ADAM
metallopeptidase
domain 2; a
disintegrin and
metalloproteinase
domain 2 (fertilin
beta); fertilin beta
CD107B, IDO:
Indoleamine 2,3dioxygenase;
indole 2,3dioxygenase
2515
601533
Protein
coding
448
8p11.2
2
3989048533905107
INDO:
indoleaminepyrrole 2,3
dioxygenase
3620
147435
Protein
coding
449
8p11.2
2
3995574339992278
INDOL1:
indoleaminepyrrole 2,3
dioxygenase-like
1
indoleamine 2,3dioxygenase-like
1 protein
169355
450
8p11.2
1
4013014640131600
C8orf4:
chromosome 8
open reading
frame 4
MGC22806, TC1, TC1, hTC-1:
human thyroid
cancer 1; thyroid
cancer-1
56892
451
8p11.2
1
4050727040874500
FLJ13842
79698
8p11.2
1
4123863541286137
ZMAT4: zinc
finger, matrin
type 4
SFRP1: secreted
frizzled-related
protein 1
452
FRP, FRP-1,
FRP1, FrzA,
SARP2: secreted
6422
Protein
coding
607702
Protein
coding
This gene encodes a member of the ADAM (a disintegrin and
metalloprotease domain) family. Members of this family are membraneanchored proteins structurally related to snake venom disintegrins, and have
been implicated in a variety of biologic processes involving cell-cell and
cell-matrix interactions, including fertilization, muscle development, and
neurogenesis. The protein encoded by this gene is a sperm surface protein.
This gene encodes a member of the ADAM (a disintegrin and
metalloprotease domain) family. Members of this family are membraneanchored proteins structurally related to snake venom disintegrins, and have
been implicated in a variety of biological processes involving cell-cell and
cell-matrix interactions, including fertilization, muscle development, and
neurogenesis. This member is a subunit of an integral sperm membrane
glycoprotein called fertilin, which plays an important role in sperm-egg
interactions.
metalloendopeptidase
activity zinc ion binding
cell differentiation
multicellular organismal
development proteolysis
spermatogenesis
integral to membrane
membrane
membrane fraction
integrin binding
metalloendopeptidase
activity protein bindimg
zinc ion binding
cell adhesion fusion of
sperm to egg plasma
membrane
proteolysis
integral to membrane
membrane
Gamma-interferon (IFNG; MIM 147570) has an antiproliferative effect on
many tumor cells and inhibits intracellular pathogens such as Toxoplasma
and Chlamydia, at least partly because of the induction of indoleamine 2,3dioxygenase (INDO; EC 1.13.11.42). This enzyme catalyzes the
degradation of the essential amino acid L-tryptophan to Nformylkynurenine
IDO2 encodes a novel IDO-related tryptophan catabolic enzyme that is
preferentially inhibited by D-1-methyl-tryptophan (D-1MT). IDO2 may
have a distinct role in immune tolerance. Two common human genetic
polymorphisms ablate IDO2 enzyme activity. Evolutionary relationships
between the INDO and INDOL1 genes. The INDOL1 protein has a distinct
expression pattern compared to INDO and both have the ability to
catabolise tryptophan.
electron carrier activity
heme binding
indoleamine 2,3dioxygenase activity
iron ion binding
metal ion binding
heme binding iron ion
binding
metal ion binding
oxidoreductase activity
oxidoreductase activity,
acting on single donors
with incorporation of
molecular oxygen,
incorporation of two
atoms of oxygen
female pregnancy
tryptophan catabolic
process
This gene encodes a small, monomeric, predominantly unstructured protein
that functions as a positive regulator of the Wnt/beta-catenin signaling
pathway. This protein interacts with a repressor of beta-catenin mediated
transcription at nuclear speckles. It is thought to competitively block
interactions of the repressor with beta-catenin, resulting in up-regulation of
beta-catenin target genes. TC-1 over expression is transforming and may
link with the FGFR pathway in a subset of breast cancer. Gene induces
transformed phenotype when overexpressed in a cancer breast cell line.
Overexpression of TC-1 may be important in thyroid carcinogenesis.
Protein
coding
604156
Protein
coding
Secreted frizzled-related protein 1 (SFRP1) is a member of the SFRP family
that contains a cysteine-rich domain homologous to the putative Wntbinding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt
apoptosis
DNA binding metal ion
binding
zinc ion binding
protein bindimg
intracellular nucleus
Wnt receptor signaling
pathway anatomical
structure morphogenesis
extracellular region
extracellular space
57
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
apoptosis-related
protein 2
453
8p11.2
1
4146723841487656
GOLGA7: golgi
autoantigen,
golgin subfamily
a, 7
454
8p11.2
1
4150590341519068
455
8p11.2
1
4155487641597971
INS4: GINS
complex subunit 4
(Sld5 homolog)
AGPAT6: 1acylglycerol-3phosphate Oacyltransferase 6
(lysophosphatidic
acid
acyltransferase,
zeta)
456
8p11.2
1
4162298641624035
NKX6-3: NK6
homeobox 3
457
8p11.2
1
8p11.2
1
4163711641637183
4162990141774297
MIRN486:
microRNA 486
ANK1: ankyrin 1,
erythrocytic
458
GCP16,
GOLGA3AP1,
HSPC041,
MGC21096,
MGC4876: Golgi
complexassociated protein
of 16kDa
MGC14799,
SLD5: SLD5;
SLD5 homolog
DKFZp586M181
9, LPAAT-zeta,
LPAATZ,
TSARG7:
lysophosphatidic
acid
acyltransferase
zeta; testis
spermatogenesis
apoptosis-related
protein 7
FLJ25169,
NKX6.3: NK6
transcription
factor related,
locus 3
hsa-mir-486
51125
609453
Protein
coding
84296
610611
Protein
coding
137964
608143
Protein
coding
157848
610772
miscRNA
ANK, SPH1,
SPH2: ankyrin 1;
ankyrin-1,
erythrocytic;
ankyrin-R
286
619554
signaling. SFRP1 and SFRP5 may be involved in determining the polarity
of photoreceptor cells in the retina. SFRP1 is expressed in several human
tissues, with the highest levels in heart. Epigenetic inactivation by
methylation is the predominant mechanism of SFRP1 gene silencing in
breast cancer. SFRP1 inactivation is a common and early event caused
mainly by hypermethylation in gastric cancer. SFRP1 expression loss may
be correlated with tumor metastasis in primary gastric cancer. The data
support a role for sFRP1 as a tumor suppressor in clear cell renal cell
carcinoma and perhaps loss of sFRP1 is an early, aberrant molecular event
in renal cell carcinogenesis. Results indicate that SFRP1 is the Hedgehog
target to confine canonical WNT signaling within stem or progenitor cells.
Results indicate that GCP16 is the acylated membrane protein, associated
with GCP170, and possibly involved in vesicular transport from the Golgi
to the cell surface. Data show that H- and N-Ras are palmitoylated by a
human protein palmitoyltransferase encoded by the ZDHHC9 and GCP16
genes.
The C-terminal domains of the Sld5 and Psf1 subunits are connected by
linker regions to the core complex, and the C-terminal domain of Sld5 is
important for core complex assembly.
Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the
conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA
and PA are involved in signal transduction and lipid biosynthesis.
anti-apoptosis
cell differentiation
multicellular organismal
development signal
transduction
Golgi apparatus Golgi
membrane membranE
1-acylglycerol-3phosphate Oacyltransferase activity
acyltransferase activity
transferase activity
endoplasmic reticulum
integral to membrane
membrane
sequence-specific DNA
binding transcription
factor activity
diacylglycerol metabolic
process fatty acid metabolic
process glandular epithelial
cell maturation lactation
lipid biosynthetic process
mammary gland
development metabolic
process regulation of
multicellular organism
growth triacylglycerol
biosynthetic process
regulation of transcription,
DNA-dependent
transcription
cytoskeletal adaptor
activity
enzyme binding
spectrin binding
structural constituent of
cytoskeleton
cytoskeleton organization
and biogenesis
exocytosis
maintenance of epithelial
cell polarity
signal transduction
actin cytoskeleton
basolateral plasma
membrane
cytoplasm plasma
membrane
sarcoplasmic reticulum
nucleus
miscRNA
182900
Protein
coding
Ankyrins are a family of proteins that are believed to link the integral
membrane proteins to the underlying spectrin-actin cytoskeleton and play
key roles in activities such as cell motility, activation, proliferation, contact
and the maintenance of specialized membrane domains. Multiple isoforms
of ankyrin with different affinities for various target proteins are expressed
in a tissue-specific, developmentally regulated manner. Most ankyrins are
typically composed of three structural domains: an amino-terminal domain
containing multiple ankyrin repeats; a central region with a highly
conserved spectrin binding domain; and a carboxy-terminal regulatory
domain which is the least conserved and subject to variation. Ankyrin 1, the
prototype of this family, was first discovered in the erythrocytes, but since
has also been found in brain and muscles. Mutations in erythrocytic ankyrin
58
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
459
8p11.2
1
4190742042028635
MYST3: MYST
histone
acetyltransferase
(monocytic
leukemia) 3
460
8p11.2
1
4212976142147858
AP3M2: adaptorrelated protein
complex 3, mu 2
subunit
461
8p11.2
1
4215190842184351
PLAT:
plasminogen
activator, tissue
462
8p11.2
1
4224798642309122
IKBKB: inhibitor
of kappa light
KAT6A,
MGC167033,
MOZ,
RUNXBP2,
ZNF220:
Monocytic
leukemia zinc
finger protein;
runt-related
transcription
factor binding
protein 2; zinc
finger protein 220
AP47B, CLA20,
P47B: HA1
47kDA subunit
homolog 2;
clathrin assembly
protein assembly
protein complex 1
medium chain
homolog 2;
clathrin coat
assembly protein
AP47 homolog 2;
clathrinassociated protein
AP47 homolog 2;
golgi adaptor AP1 47 kDA protein
homolog 2
DKFZp686I03148
, T-PA, TPA:
alteplase;
plasminogen
activator, tissue
type; reteplase; tplasminogen
activator; tissue
plasminogen
activator (t-PA)
7994
5327
LJ40509, IKKbeta, IKK2,
3551
601408
10947
Protein
coding
1 have been associated in approximately half of all patients with hereditary
spherocytosis. Complex patterns of alternative splicing in the regulatory
domain, giving rise to different isoforms of ankyrin 1 have been described,
however, the precise functions of the various isoforms are not known.
Alternative polyadenylation accounting for the different sized erythrocytic
ankyrin 1 mRNAs, has also been reported. Truncated muscle-specific
isoforms of ankyrin 1 resulting from usage of an alternate promoter have
also been identified.
MOZ complexes with TIF2 as a recombinant fusion protein which induces
acute myelocytic leukemia
DNA binding
acetyltransferase activity
histone acetyltransferase
activity
metal ion binding
transcription factor
binding
transferase activity
zinc ion binding
DNA packaging
chromatin modification
histone acetylation
myeloid cell differentiation
negative regulation of
transcription
nucleosome assembly
positive regulation of
transcription
regulation of transcription,
DNA-dependent
transcription
nucleosome nucleus
Protein
coding
This gene encodes a subunit of the heterotetrameric adaptor-related protein
complex 3 (AP-3), which belongs to the adaptor complexes medium
subunits family. The AP-3 complex plays a role in protein trafficking to
lysosomes and specialized organelles.
Some AP3M2 mutations still remain candidates for unmapped disorders
including epilepsy, febrile seizure, and other neuronal developmental
disorders associated with functional abnormalities of GABAergic
transmission
protein bindimg protein
transporter activity
intracellular protein
transport protein complex
assembly
vesicle-mediated transport
Golgi apparatus
clathrin adaptor
complex
173370
Protein
coding
peptidase activity
plasminogen activator
activity
blood coagulation
protein modification
process
proteolysis
extracellular region
603258
Protein
coding
This gene encodes tissue-type plasminogen activator, a secreted serine
protease which converts the proenzyme plasminogen to plasmin, a
fibrinolytic enzyme. Tissue-type plasminogen activator is synthesized as a
single chain which is cleaved by plasmin to a two chain disulfide linked
protein. This enzyme plays a role in cell migration and tissue remodeling.
Increased enzymatic activity causes hyperfibrinolysis, which manifests as
excessive bleeding; decreased activity leads to hypofibrinolysis which can
result in thrombosis or embolism. Alternative splicing of this gene results in
multiple transcript variants encoding different isoforms. Tissue
plasminogen activator and neuroserpin are widely expressed in the human
central nervous system
NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM
164910), RELA (MIM 164014), or RELB (MIM 604758) to form the
ATP binding IkappaB
kinase activity
activation of NF-kappaB
transcription factor
cytoplasm
59
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
polypeptide gene
enhancer in Bcells, kinase beta
463
8p11.2
1
4231518742348470
POLB:
polymerase (DNA
directed), beta
464
8p11.2
1
4236854742382572
VDAC3: voltagedependent anion
channel 3
465
8p11.2
1
4235074342353831
DKK4: dickkopf
homolog 4
(Xenopus laevis)
466
8p11.2
1
4239315042516225
SLC20A2: solute
carrier family 20
(phosphate
transporter),
member 2
467
8p11.2
1
4251591342527280
468
8p11.2
1
4267171942712548
C8orf40:
chromosome 8
open reading
frame 40
CHRNB3:
cholinergic
receptor,
nicotinic, beta 3
IKKB,
MGC131801,
NFKBIKB:
inhibitor of
nuclear factor
kappa B kinase
beta subunit;
nuclear factor NFkappa-B inhibitor
kinase beta
MGC125976:
DNA pol beta;
DNA polymerase
beta subunit
NFKB complex. The NFKB complex is inhibited by I-kappa-B proteins
(NFKBIA, MIM 164008, or NFKBIB, MIM 604495), which inactivate NFkappa-B by trapping it in the cytoplasm. Phosphorylation of serine residues
on the I-kappa-B proteins by kinases (IKBKA, MIM 600664, or IKBKB)
marks them for destruction via the ubiquitination pathway, thereby allowing
activation of the NF-kappa-B complex. Activated NFKB complex
translocates into the nucleus and binds DNA at kappa-B-binding motifs
such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC 3prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T
pyrimidine)
In eukaryotic cells, DNA polymerase beta (POLB) performs base excision
repair (BER) required for DNA maintenance, replication, recombination,
and drug resistance. DNA pol-beta is an essential component of the DNA
replication machinery in neuronal cell death in Alzheimer's disease.
Deregulated DNA polymerase beta induces chromosome instability and
tumorigenesis.
5423
174760
Protein
coding
HD-VDAC3
7419
610029
Protein
coding
DAC3 belongs to a group of mitochondrial membrane channels involved in
translocation of adenine nucleotides through the outer membrane. These
channels may also function as a mitochondrial binding site for hexokinase
DKK-4,
MGC129562,
MGC129563:
dickkopf homolog
4
GLVR2, Glvr-2,
MLVAR, PIT-2:
gibbon ape
leukemia virus
receptor 2; murine
leukemia virus,
amphotropic,
receptor for;
solute carrier
family 20,
member 2
hypothetical
protein
LOC114926
27121
605417
Protein
coding
6575
158378
Protein
coding
This gene encodes a protein that is a member of the dickkopf family. The
secreted protein contains two cysteine rich regions and is involved in
embryonic development through its interactions with the Wnt signaling
pathway. Activity of this protein is modulated by binding to the Wnt coreceptor and the co-factor kremen 2.
Two highly conserved glutamate residues critical for sodium-dependent
phosphate transport are revealed by uncoupling transport function from
retroviral receptor function.
acetylcholine
receptor, neuronal
nicotinic, beta-3
subunit;
1142
114926
identical protein
bindimg
nucleotide binding
protein serine/threonine
kinase activity proteintyrosine kinase activity
transcription activator
activity
transferase activity
protein amino acid
phosphorylation protein
amino acid phosphorylation
protein modification
process
beta DNA polymerase
activity
damaged DNA binding
lyase activity
magnesium ion binding
microtubule binding
nucleotidyltransferase
activity protein bindimg
sequence-specific DNA
binding sodium ion
binding transferase
activity
protein bindimg
voltage-gated anion
channel activity
DNA-dependent DNA
replication
anti-apoptosis
cell death
pyrimidine dimer repair
cytoplasm
intracellular
nucleus spindle
microtubule
adenine transport
anion transport
Molecular function
Wnt receptor signaling
pathway multicellular
organismal development
negative regulation of Wnt
receptor signaling pathway
phosphate transport
transport
integral to plasma
membrane membrane
mitochondrial outer
membrane
mitochondrion
outer membrane
extracellular region
inorganic phosphate
transmembrane
transporter activity
receptor activity
sodium:phosphate
symporter activity
Protein
coding
118508
Protein
coding
integral to plasma
membrane
membrane membrane
fraction
integral to membrane
membrane
Absence of differences in the pharmacological profile of nicotinic receptor
alpha3beta4 argues against role for incorporated beta3 subunit in formation
of agonist binding sites while changes in channel kinetics suggest important
effect on receptor gating
channel activity
extracellular ligandgated ion channel
activity
ion transport
signal transduction
synaptic transmission,
cholinergic
cell junction integral to
membrane
nicotinic acetylcholinegated receptor-channel
60
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
cholinergic
receptor,
nicotinic, beta
polypeptide 3
469
8p11.2
1
4272692042742776
CHRNA6:
cholinergic
receptor,
nicotinic, alpha 6
CHNRA6:
cholinergic
receptor,
nicotinic, alpha
polypeptide 6
8973
470
8p11.2
1
4282954842870939
RNF170: ring
finger protein 170
DKFZP564A022,
FLJ38306
81790
471
8p11.2
1
4281097442817631
THAP1: THAP
domain
containing,
apoptosis
associated protein
1
55145
609520
Protein
coding
The protein encoded by this gene contains a THAP domain, a conserved
DNA-binding domain. This protein colocalizes with the apoptosis response
protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies,
and functions as a proapoptotic factor that links PAWR to PML nuclear
bodies. Alternatively spliced transcript variants encoding distinct isoforms
have been observed.
472
8p11.2
1
4287119042994084
HOOK3: hook
homolog 3
(Drosophila)
84376
607825
Protein
coding
Hook proteins are cytosolic coiled-coil proteins that contain conserved Nterminal domains, which attach to microtubules, and more divergent Cterminal domains, which mediate binding to organelles. The Drosophila
Hook protein is a component of the endocytic compartment.
473
8p11.2
1
430305994
3060088
FNTA:
farnesyltransferas
e, CAAX box,
alpha
FLJ10477,
MGC33014:
4833431A01Rik;
THAP domain
protein 1; nuclear
proapoptotic
factor
HK3: golgiassociated
microtubulebinding protein
HOOK3
FPTA,
MGC99680,
PGGT1A: FTasealpha; GGTase-Ialpha;
farnesyltransferas
e alpha-subunit;
ras proteins
prenyltransferase
alpha; type I
protein geranylgeranyltransferase
alpha subunit
MGC126597,
hypothetical
protein
LOC84197
DKFZp686G2417
5, FLJ22242,
FLJ32731,
2339
134635
Protein
coding
Prenyltransferases attach either a farnesyl group or a geranylgeranyl group
in thioether linkage to the cysteine residue of protein's with a C-terminal
CAAX box. CAAX geranylgeranyltransferase and CAAX
farnesyltransferase are heterodimers that share the same alpha subunit but
have different beta subunits. This gene encodes the alpha subunit of these
transferases. Alternative splicing results in multiple transcript variants
encoding different isoforms.
Gene encoding the enzyme deficient in mucopolysaccharidosis IIIC was
identified as HGSNAT; mutational analyses identified a splice-junction
mutation that accounted for three mutant alleles, and a single base-pair
474
8p11.2
1
475
8p11.2
1
4306781843097480
4311479743177127
FLJ23356:
hypothetical
protein FLJ23356
HGSNAT:
heparan-alphaglucosaminide N-
606888
Protein
coding
84197
138050
Protein
coding
ion channel activity
neurotransmitter
receptor activity
nicotinic acetylcholineactivated cationselective channel
activity
acetylcholine receptor
activity
extracellular ligandgated ion channel
activity ion channel
activity
nicotinic acetylcholineactivated cationselective channel
activity
metal ion binding
protein bindimg
zinc ion binding
DNA binding metal ion
binding zinc ion binding
microtubule binding
complex
plasma membrane
postsynaptic membrane
synapse
ion transport
signal transduction
synaptic transmission
cell junction integral to
membrane nicotinic
acetylcholine-gated
receptor-channel
complex
plasma membrane
postsynaptic membrane
synapse
integral to membrane
membrane
nucleus
Golgi localization
cytoplasmic microtubule
organization and biogenesis
Golgi apparatus cisGolgi network
cytoplasm cytoskeleton
microtubule
CAAX-protein
geranylgeranyltransfera
se activity
protein bindimg
protein
farnesyltransferase
transferase activity
protein amino acid
farnesylation
protein amino acid
geranylgeranylation
transforming growth factor
beta receptor signaling
pathway
cytoplasm
acyltransferase activity
heparan-alphaglucosaminide N-
glycosaminoglycan
metabolic process
integral to membrane
lysosomal membrane
membrane
IEA
IPI
TAS
IEA
protein
coding
610453
Protein
coding
61
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
acetyltransferase
476
8p11.2
1
4326674243337485
477
8p11.2
1
4761000047645724
478
8p11.2
1
4800201848006274
479
8p11.2
1
4818777648191592
480
8p11.2
1
4822410048225305
481
8p11.2
1
4833609548811028
482
8p11.2
1
4858562448587835
483
8p11.2
1
4866694048667731
484
8p11.2
1
4881202948813279
A26A1:
ANKRD26-like
family A, member
1
ASNSL1:
asparagine
synthetase-like 1
MAPK6PS4:
mitogen-activated
protein kinase 6
pseudogene 4
RPL10AP2:
ribosomal protein
L10a pseudogene
2
ATP6V1GP2:
ATPase, H+
transporting,
lysosomal 13kDa,
V1 subunit G
pseudogene 2
KIAA0146
HGNAT, MPS3C,
TMEM76:
transmembrane
protein 76
POTE-8, POTE8
Erk3ps4
340441
608915
pseudogene
286065
pseudogene
253986
pseudogene
protein
coding
LOC100129093:
similar to p47
1001290
93
pseudogene
LOC100128689:
similar to
ubiquitinconjugating
enzyme E2 UbcHben
CEBPD:
CCAAT/enhancer
binding protein
(C/EBP), delta
1001286
89
pseudogene
1052
The protein encoded by this intronless gene is a bZIP transcription factor
which can bind as a homodimer to certain DNA regulatory regions. It can
also form heterodimers with the related protein CEBP-alpha. The encoded
protein is important in the regulation of genes involved in immune and
inflammatory responses, and may be involved in the regulation of genes
associated with activation and/or differentiation of macrophages. And it is
invoved in cancer.
protein dimerization
activity
sequence-specific DNA
binding
transcription factor
activity
pseudogene
23514
C/EBP-delta,
CELF, CRP3, NFIL6-beta
acetyltransferase
activity transferase
activity
protein
coding
389652
619450
hypothetical
protein
LOC23514
insertion accounted for the fourth. Mutational analysis of HGSNAT in
Italian Sanfilippo C syndrome patients resulted in identification of 9 alleles
(8 novel)-- 3 splice-site mutations, 3 frameshift deletions resulting in
premature stop codons, 1 nonsense mutation & 2 missense mutations
116898
protein
coding
regulation of transcription,
DNA-dependent
transcription
transcription from RNA
polymerase II promoter
nucleus
62
Supplementary Information
TABLE S1: GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
GENES ON CHROMOSOME 8p: LOCALIZATION AND DESCRIPTION
(GENES = 484)
Data have been obtained from NCBI (http://www.ncbi.nlm.nih.gov/ ), OMIN, Entrez Gene (http://www.ncbi.nlm.nih.gov/sites/entrez) and
Ensembl release 48 (http://www.ensembl.org/Homo_sapiens/contigview?c=8:1748847.5;w=10008)
63