| Symbol |
Name |
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ACE
|
angiotensin I converting enzyme
|
|
ADAM19
|
ADAM metallopeptidase domain 19
|
|
ADAM29
|
ADAM metallopeptidase domain 29
|
|
AICDA
|
activation-induced cytidine deaminase
|
|
AKR1B1
|
aldo-keto reductase family 1, member B1 (aldose reductase)
|
|
ALDH1A2
|
aldehyde dehydrogenase 1 family, member A2
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
APOA1
|
apolipoprotein A-I
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARAF
|
A-Raf proto-oncogene, serine/threonine kinase
|
|
ARAP3
|
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
|
|
ARF1
|
ADP-ribosylation factor 1
|
|
ARHGAP30
|
Rho GTPase activating protein 30
|
|
ARNTL
|
aryl hydrocarbon receptor nuclear translocator-like
|
|
ATL1
|
atlastin GTPase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATXN3
|
ataxin 3
|
|
AVP
|
arginine vasopressin
|
|
BCL6
|
B-cell CLL/lymphoma 6
|
|
BMP7
|
bone morphogenetic protein 7
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRF1
|
BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
|
|
CALY
|
calcyon neuron-specific vesicular protein
|
|
CAPN3
|
calpain 3, (p94)
|
|
CBFB
|
core-binding factor, beta subunit
|
|
CBX4
|
chromobox homolog 4
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CELIAC2
|
celiac disease 2
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CLOCK
|
clock circadian regulator
|
|
COPS2
|
COP9 signalosome subunit 2
|
|
CTAGE5
|
CTAGE family, member 5
|
|
CUL7
|
cullin 7
|
|
CYP3A4
|
cytochrome P450, family 3, subfamily A, polypeptide 4
|
|
DAND5
|
DAN domain family member 5, BMP antagonist
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DDX20
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 20
|
|
DFNB33
|
deafness, autosomal recessive 33
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DYSF
|
dysferlin
|
|
EGFR
|
epidermal growth factor receptor
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
EPM2AIP1
|
EPM2A (laforin) interacting protein 1
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ESR1
|
estrogen receptor 1
|
|
EWSR1
|
EWS RNA-binding protein 1
|
|
F13A1
|
coagulation factor XIII, A1 polypeptide
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FLRT2
|
fibronectin leucine rich transmembrane protein 2
|
|
FLT3
|
fms-related tyrosine kinase 3
|
|
GAPDH
|
glyceraldehyde-3-phosphate dehydrogenase
|
|
GAS8
|
growth arrest-specific 8
|
|
GINS3
|
GINS complex subunit 3 (Psf3 homolog)
|
|
HDAC6
|
histone deacetylase 6
|
|
HFE
|
hemochromatosis
|
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
|
HS3ST3B1
|
heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1
|
|
HSDL1
|
hydroxysteroid dehydrogenase like 1
|
|
HSPA5
|
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
ID2
|
inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
|
|
IFNL3
|
interferon, lambda 3
|
|
IL10
|
interleukin 10
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
INS
|
insulin
|
|
INSR
|
insulin receptor
|
|
KDM5B
|
lysine (K)-specific demethylase 5B
|
|
KEAP1
|
kelch-like ECH-associated protein 1
|
|
KIF11
|
kinesin family member 11
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLF4
|
Kruppel-like factor 4 (gut)
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LACRT
|
lacritin
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MAPKAPK2
|
mitogen-activated protein kinase-activated protein kinase 2
|
|
MAPT
|
microtubule-associated protein tau
|
|
MC4R
|
melanocortin 4 receptor
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MFN2
|
mitofusin 2
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MMEL1
|
membrane metallo-endopeptidase-like 1
|
|
MST1
|
macrophage stimulating 1
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MUC16
|
mucin 16, cell surface associated
|
|
MVP
|
major vault protein
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
NELFCD
|
negative elongation factor complex member C/D
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NFE2L2
|
nuclear factor, erythroid 2-like 2
|
|
NGDN
|
neuroguidin, EIF4E binding protein
|
|
NPPB
|
natriuretic peptide B
|
|
OPTC
|
opticin
|
|
PAPPA
|
pregnancy-associated plasma protein A, pappalysin 1
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PGR
|
progesterone receptor
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PTCHD1
|
patched domain containing 1
|
|
PTPN12
|
protein tyrosine phosphatase, non-receptor type 12
|
|
PTPN2
|
protein tyrosine phosphatase, non-receptor type 2
|
|
PTPRN
|
protein tyrosine phosphatase, receptor type, N
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
RASGRP3
|
RAS guanyl releasing protein 3 (calcium and DAG-regulated)
|
|
RBM38
|
RNA binding motif protein 38
|
|
RHOU
|
ras homolog family member U
|
|
RIPK2
|
receptor-interacting serine-threonine kinase 2
|
|
ROS1
|
ROS proto-oncogene 1 , receptor tyrosine kinase
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RUNDC3B
|
RUN domain containing 3B
|
|
RUNX1
|
runt-related transcription factor 1
|
|
RXFP1
|
relaxin/insulin-like family peptide receptor 1
|
|
SDF4
|
stromal cell derived factor 4
|
|
SELP
|
selectin P (granule membrane protein 140kDa, antigen CD62)
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SFN
|
stratifin
|
|
SIX1
|
SIX homeobox 1
|
|
SIX3
|
SIX homeobox 3
|
|
SLC18A3
|
solute carrier family 18 (vesicular acetylcholine transporter), member 3
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC30A8
|
solute carrier family 30 (zinc transporter), member 8
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SORBS1
|
sorbin and SH3 domain containing 1
|
|
SOSTDC1
|
sclerostin domain containing 1
|
|
SOX12
|
SRY (sex determining region Y)-box 12
|
|
SPP1
|
secreted phosphoprotein 1
|
|
STIL
|
SCL/TAL1 interrupting locus
|
|
TBC1D10C
|
TBC1 domain family, member 10C
|
|
TBX1
|
T-box 1
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TMED3
|
transmembrane emp24 protein transport domain containing 3
|
|
TMEM134
|
transmembrane protein 134
|
|
TNF
|
tumor necrosis factor
|
|
TNFAIP6
|
tumor necrosis factor, alpha-induced protein 6
|
|
TNFRSF1B
|
tumor necrosis factor receptor superfamily, member 1B
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TPT1
|
tumor protein, translationally-controlled 1
|
|
TRAF3
|
TNF receptor-associated factor 3
|
|
TYRO3
|
TYRO3 protein tyrosine kinase
|
|
UCHL5
|
ubiquitin carboxyl-terminal hydrolase L5
|
|
UXT
|
ubiquitously-expressed, prefoldin-like chaperone
|
|
WIF1
|
WNT inhibitory factor 1
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
