The Cardiovascular
Gene Ontology Initiative
Ruth Lovering1, Varsha Khodiyar1, Daniel Barrell2, Emily Dimmer2, Pete Scambler3, Mike Hubank4, Rolf
Apweiler2, Philippa Talmud1
1Department of Medicine, Rayne Institute, UCL; 2Gene Ontology Annotation (GOA) Project, European
Bioinformatics Institute, Hinxton; 3Molecular Medicine Unit, ICH; 4Molecular Haematology & Cancer Biology, ICH
Providing full gene ontology annotation
to genes associated with cardiovascular
processes
Gene Ontology (GO) provides a systematic
language for the description of attributes of
genes and gene products in three key domains
molecular
function
biological
process
cellular
component
Call for annotation contributions
We have provided a variety of tools to enable
cardiovascular scientists to review the
annotation of their “favourite” gene and
suggest what information is missing,
incomplete or inaccurate in these
annotations. GO annotations can be viewed
and commented on using the editable wiki
site. Alternatively annotation suggestions can
be sent by email or through the GOA user
survey form.
Useful URLs:
Editable wiki site: http://wiki.geneontology.org/
index.php/Cardiovascular
GOA user survey form: http://www.ebi.ac.uk/GOA/
contactus.html
CV GOA Initiative home page: http://www.ucl.ac.uk/
medicine/cardiovascular-genetics/geneontology.html
GOA home page: http://www.ebi.ac.uk/GOA/
Email:
goannotation@ucl.ac.uk
Figure showing part of the cardiac differentiation Gene Ontology,
showing the different relationships between the parent and child
terms. QuickGO enables terms of interest to be highlighted.
The first 248 cardiovascular-associated
genes to be annotated as a priority
ABCA1
ABCG1
ACE
ACE2
ADAM17
ADAM9
ADD1
ADIPOQ
ADRA1A
ADRA2A
ADRA2B
ADRB1
ADRB2
ADRBK1
AGT
AGTR1
AGTR2
ANGPTL3
APOA1
APOA2
APOA4
APOA5
APOB
APOC2
APOC3
APOE
APOH
APOL1
ATP2A2
AXIN1
BBS1
BBS2
BBS4
BBS5
BMP10
BMPR2
CALR
CAPN10
CAV1
CAV3
CDH13
CDK6
CDKAL1
CDKN2A
CDKN2A
CDKN2AIP
CDKN2B
CDKN2C
CDKN2D
CELSR2
CETP
CHD7
CHRD
CHRNA1
CIDEA
CILP2
CITED2
CLPTM1
COL2A1
CRKL
CRP
CST3
CXCL12
CXCR4
CYBA
CYP11B1
CYP11B2
CYP26B1
CYP26C1
DRD1
DRD2
DRD3
DRD4
DVL1
ECE1
EDN1
EDN2
EGFR
ELN
ENG
ENPP1
ERBB2
ERBB3
EVC
EXT2
F12
F2R
FGF8
FKBP1A
FKBP1B
FLNA
FMN2
FOXC1
FOXJ1
FURIN
FXN
G6PD
GAA
GALNT2
GATA4
GATA6
GBX2
GHR
GHRHR
GJA1
GJA5
GNB3
GPX1
GYS1
HAS2
HBEGF
HES1
HHEX
HIC2
HIF1A
HIRA
HMOX1
HNF1A
HNF1B
HNF4A
ICAM1
IFT80
IGF1
IGF2BP2
IL1B
IL6R
IL6ST
INS
INSR
ISL1
JAG1
JMJD6
JUP
KCNJ11
KDR
KL
KRIT1
LBP
LDLR
LEFTY2
LEP
LEPR
LPA
LPL
MAPK7
MEF2C
MEN1
MIA3
MLXIPL
MTHFD1L
MTHFR
MYBPC3
MYL1
MYL2
MYL3
MYLK2
MYLPF
NEUROD1
NFATC1
NKX2-5
NKX2-6
NODAL
NOG
NOS1
NOS2A
NOS3
NOX1
NPPA
NPPB
NR2F2
NRG1
OBSL1
P2RX4
P2RX7
PAFAH1B1
PBX4
PCK1
PCSK2
PCSK5
PCSK6
PDGFA
PDGFC
PDGFRA
PITX2
PKD1
PLA2G1B
PON1
PON3
PPARG
PRKAG2
PRKAR1A
PROX1
PSEN1
PSEN2
PSMD9
PSRC1
PTEN
PTPN11
RARA
RARB
RARG
RBP4
REN
ROBO1
ROBO2
ROBO3
ROBO4
RPS19
RXRA
SCD
SELE
SELS
SEMA3C
SERPINE1
SIRT1
SLC30A8
SLC6A4
SLIT1
SLIT2
SLIT3
SMAD3
SMAD4
SOD2
SOD2
SORT1
SOX4
SRF
TBL2
TBX2
TCF7L2
TGFB2
TGFBR2
TGFBR3
TH
THBS1
TMSB4X
TNF
TNNC1
TPM1
TRIB1
TTN
USF1
VCAM1
VCL
VEGFA
VNN1
WFS1
WRN