Additional file 3: Chromosome 12q24-qter genes relevant to phenotype
SYMBOL NAME OF THE GENE LOCATION OMIM
ABCB9
NCOR2 Nuclear co-receptor suppressor 2
P2RX7
SLC24A6 Solute carrier family 24 (sodium, potassium calcium exchanger )
THRAP2 Thyroid hormone receptor
APPL2 associated protein 2
Adaptor protein
CMKLR1 Chemokine-likereceptor 1
PRKAB1 AMP activated protein kinase
PTPN11 Protein tyrosin phosphatase nonreceptor protein11
RPH3A Rabphillin 3 a
TBX3
TBX5
T-Box 3
T-Box 5
TECT1
TPCN1
TRPV4
Tectonic 1
Two-pore segment channel
Transient receptor potential cation channel Subfamily V,
STK21
MSI1 member 4
Serine/protein kinase 21
Musashi 1
DYNLL1 Dynein light chain 1, C3 type 1
KSR2
TESC
Kinase suppressor of RAS 2
Tescalcin
FBXW8 F-Box and WD40 domaine protein 8
PEPB1 Phosphodylethanolamin binding protein
SRRM4 Serine/arginine repetitive matrix protein 4
NOS1 Neuronal nitric oxide synthase
RAN
UBC
ULK1
ATP binding casette
Purinergic receptor 2, ligand gated ion channel 7
Ras-related nuclear protein
Ubiquitin C
Uncr51like kinase 1
12q24
12q24
12q24
12q24
12q24
12q24.1
12q24.1
12q24.1
12q24.1
12q24.1
12q24.1
12q24.1
12q24.1
12q24.1
12q24.1
FUNCTION and PHENOTYPES
605453 ATP binding cassette associated with lysosomes
600848 Regulates androgen receptor, development and morphogenesis
602566 Neuronal function
609841
608771
606231
602351
602740
176876
612159
601621
601620
609863
609666
605427
Maintains Ca2+ homeostasis by K+ depend3ent Na+ Ca2+ exchange
Embryonic development, transposition of great vessels,
Link to small GTPase RAB5, remodels nucleosome
Possible role in the inflammatory pathways
Likely role in monitoring cellular energy status
Plays a regulatory role in various cell signaling events
Target of RAB3a, exocytosis of neurotransmitters
Plays a role in the anterior/posterior axis of the tetrapod forelimb
Likely role in heart development and specification of limb identity
Modulates hedge-hog signaling,
Nicotinic acid-ADP receptor signals release of Ca2+
Likely to involve in behavioral responses to osmotic and mechanical stimuli in mammals
12q24.1q24.3 605629 CNS malformation, defective neurogenesis
12q24.1q24.1 603328 Regulates neural development, decides fate of neurogenitor cells
12q24.2
12q24.2
12q24.2
601562
12q24.23 609073 F-Box protein, induces phospho-dependent ubiquination of SCF complex
12q24.23 604591 RAF-kinase inhibitor associates with centrosome, regulates the spindle check-point
12q24.23 613103 Normal neuron development, and neurite extension, located in introns includes minigenes to exons
12q24.2163731 A neurotransmitter in brain and peripheral CNS q24.31
12q24.3
12q24.3
12q24.3
610737
611585
601179
191340
603168
Inhibits NO Synthase in brain
Ras signaling pathways for serine/threonine kinase
Encodes a protein involved in testicular development
Transfer of RNA and proteins through nuclear pores
Associates with PPAR signaling pathway
Neuronal differentiation, axon elongation

BAZ2A Bromodomain adjacent to zinc finger domain 2A
DNAH10 Dynein axonemal heavy chain 10
GPR81 G-protein coupled receptor 81 12q24.3.1 606923 microtubule assembly
G-coupled receptor, signal transduction
GPR109A G-protein coupled receptor 109A 12q24.3.1 609163 Nicotinic acid receptor suppresses adipose lipolysis
GPR109B G-protein coupled receptor 109B 12q24.3.1 606039 Adipose tissue nicotinic acid receptor, adipose tissue
SPPL3 Signal peptide peptidase like 3 12q24.3.1 608240 Aspartyl protease cleaves signal peptides
VPS33A Vacuolar protein sorting 33a
VPS37B Vacuolar protein sorting 37B
12q24.3.1 610034 Mitochondria based apoptotic signal
12q24.3.1 610037 Part of human endosomal complex
LHX5 LIM homeo box protein 5
12q24.3-qter 605682 Involved in regulating the function of chromatin modeling function of NORC
12q24.3.1 605884 Axonemal dynein activity; ATPase ATP binding motor of
12q24.31q24.32
605992 Regulates precursor cell proliferation and migration
12q24.32 600846 Ionotropic ATP gated ion channel. P2RX4 Purinergic receptor ion gated channel 4
ZNF140 Zinc finger 140
EP400
STX2
P400 SW12/SNF2 related protein
Epimorphine (Synraxin2)
MMP17 Matrix metalloproteinase 17
1qq24.32q24.33
604082 Function as transcription repressors
12q24.33 606265 Chromatin modification
12q24.33 132350 Testicular development and spermatogenesis
12q24.33 602285 Membrane bound MMP peptidoglycan metabolism