| Symbol |
Name |
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCC1
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 1
|
|
ABHD6
|
abhydrolase domain containing 6
|
|
ABL2
|
ABL proto-oncogene 2, non-receptor tyrosine kinase
|
|
ACKR2
|
atypical chemokine receptor 2
|
|
ACOT11
|
acyl-CoA thioesterase 11
|
|
ADAMTS1
|
ADAM metallopeptidase with thrombospondin type 1 motif, 1
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
ALB
|
albumin
|
|
ALOX15B
|
arachidonate 15-lipoxygenase, type B
|
|
ANGPT1
|
angiopoietin 1
|
|
ANGPTL4
|
angiopoietin-like 4
|
|
ANKS6
|
ankyrin repeat and sterile alpha motif domain containing 6
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
ANXA10
|
annexin A10
|
|
AP2M1
|
adaptor-related protein complex 2, mu 1 subunit
|
|
APBA2
|
amyloid beta (A4) precursor protein-binding, family A, member 2
|
|
APBB1
|
amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)
|
|
APC
|
adenomatous polyposis coli
|
|
APC2
|
adenomatosis polyposis coli 2
|
|
APLP2
|
amyloid beta (A4) precursor-like protein 2
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APTX
|
aprataxin
|
|
ARHGEF25
|
Rho guanine nucleotide exchange factor (GEF) 25
|
|
ASPSCR1
|
alveolar soft part sarcoma chromosome region, candidate 1
|
|
ATAT1
|
alpha tubulin acetyltransferase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP1A1
|
ATPase, Na+/K+ transporting, alpha 1 polypeptide
|
|
ATP1B1
|
ATPase, Na+/K+ transporting, beta 1 polypeptide
|
|
ATP2B4
|
ATPase, Ca++ transporting, plasma membrane 4
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
AURKA
|
aurora kinase A
|
|
AURKB
|
aurora kinase B
|
|
BACE1
|
beta-site APP-cleaving enzyme 1
|
|
BCL11B
|
B-cell CLL/lymphoma 11B (zinc finger protein)
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCL2L1
|
BCL2-like 1
|
|
BIK
|
BCL2-interacting killer (apoptosis-inducing)
|
|
BIRC2
|
baculoviral IAP repeat containing 2
|
|
BIRC5
|
baculoviral IAP repeat containing 5
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
C3AR1
|
complement component 3a receptor 1
|
|
C5AR1
|
complement component 5a receptor 1
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CALCRL
|
calcitonin receptor-like
|
|
CALR
|
calreticulin
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CASP7
|
caspase 7, apoptosis-related cysteine peptidase
|
|
CASP8
|
caspase 8, apoptosis-related cysteine peptidase
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBY1
|
chibby homolog 1 (Drosophila)
|
|
CCL19
|
chemokine (C-C motif) ligand 19
|
|
CCL21
|
chemokine (C-C motif) ligand 21
|
|
CCND1
|
cyclin D1
|
|
CD24
|
CD24 molecule
|
|
CD6
|
CD6 molecule
|
|
CD68
|
CD68 molecule
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDK5
|
cyclin-dependent kinase 5
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDX2
|
caudal type homeobox 2
|
|
CEBPA
|
CCAAT/enhancer binding protein (C/EBP), alpha
|
|
CENPA
|
centromere protein A
|
|
CETP
|
cholesteryl ester transfer protein, plasma
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHRNA9
|
cholinergic receptor, nicotinic, alpha 9 (neuronal)
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COPS5
|
COP9 signalosome subunit 5
|
|
CRISP3
|
cysteine-rich secretory protein 3
|
|
CRK
|
v-crk avian sarcoma virus CT10 oncogene homolog
|
|
CST9L
|
cystatin 9-like
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CUX1
|
cut-like homeobox 1
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CXCR1
|
chemokine (C-X-C motif) receptor 1
|
|
CXCR2
|
chemokine (C-X-C motif) receptor 2
|
|
CYP2D6
|
cytochrome P450, family 2, subfamily D, polypeptide 6
|
|
DGKD
|
diacylglycerol kinase, delta 130kDa
|
|
DMBT1
|
deleted in malignant brain tumors 1
|
|
DMD
|
dystrophin
|
|
DNASE1
|
deoxyribonuclease I
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
EDNRA
|
endothelin receptor type A
|
|
EDNRB
|
endothelin receptor type B
|
|
EGFR
|
epidermal growth factor receptor
|
|
ERAP1
|
endoplasmic reticulum aminopeptidase 1
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ESPN
|
espin
|
|
ETS1
|
v-ets avian erythroblastosis virus E26 oncogene homolog 1
|
|
EZR
|
ezrin
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FAM173B
|
family with sequence similarity 173, member B
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FAS
|
Fas cell surface death receptor
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FBN1
|
fibrillin 1
|
|
FCGRT
|
Fc fragment of IgG, receptor, transporter, alpha
|
|
FHIT
|
fragile histidine triad
|
|
FKBP1B
|
FK506 binding protein 1B, 12.6 kDa
|
|
FLNB
|
filamin B, beta
|
|
FLT3
|
fms-related tyrosine kinase 3
|
|
FLT4
|
fms-related tyrosine kinase 4
|
|
FMOD
|
fibromodulin
|
|
FOXC1
|
forkhead box C1
|
|
FOXP3
|
forkhead box P3
|
|
FRA2H
|
fragile site, aphidicolin type, common, fra(2)(q32.1)
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FRMPD1
|
FERM and PDZ domain containing 1
|
|
GAPDHS
|
glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
|
|
GC
|
group-specific component (vitamin D binding protein)
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GHRL
|
ghrelin/obestatin prepropeptide
|
|
GLRA3
|
glycine receptor, alpha 3
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GOLPH3
|
golgi phosphoprotein 3 (coat-protein)
|
|
GPSM1
|
G-protein signaling modulator 1
|
|
GPX1
|
glutathione peroxidase 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HEPH
|
hephaestin
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNRNPK
|
heterogeneous nuclear ribonucleoprotein K
|
|
HSD17B12
|
hydroxysteroid (17-beta) dehydrogenase 12
|
|
HSPA9
|
heat shock 70kDa protein 9 (mortalin)
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IFNG
|
interferon, gamma
|
|
IGH
|
immunoglobulin heavy locus
|
|
IL10
|
interleukin 10
|
|
IL12RB1
|
interleukin 12 receptor, beta 1
|
|
IL1B
|
interleukin 1, beta
|
|
IL1R1
|
interleukin 1 receptor, type I
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IL23R
|
interleukin 23 receptor
|
|
IL2RB
|
interleukin 2 receptor, beta
|
|
IL4
|
interleukin 4
|
|
IL4I1
|
interleukin 4 induced 1
|
|
IL6
|
interleukin 6
|
|
INHA
|
inhibin, alpha
|
|
ITGAD
|
integrin, alpha D
|
|
ITGB2
|
integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
KCNA5
|
potassium channel, voltage gated shaker related subfamily A, member 5
|
|
KCNE1
|
potassium channel, voltage gated subfamily E regulatory beta subunit 1
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KIAA0319
|
KIAA0319
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KITLG
|
KIT ligand
|
|
KLF4
|
Kruppel-like factor 4 (gut)
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT14
|
keratin 14, type I
|
|
KRT3
|
keratin 3, type II
|
|
KRT5
|
keratin 5, type II
|
|
LCN6
|
lipocalin 6
|
|
LGALS3
|
lectin, galactoside-binding, soluble, 3
|
|
LMNA
|
lamin A/C
|
|
LMO2
|
LIM domain only 2 (rhombotin-like 1)
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LOXL1
|
lysyl oxidase-like 1
|
|
LOXL2
|
lysyl oxidase-like 2
|
|
LOXL3
|
lysyl oxidase-like 3
|
|
LRP1
|
low density lipoprotein receptor-related protein 1
|
|
MAOA
|
monoamine oxidase A
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAVS
|
mitochondrial antiviral signaling protein
|
|
MBNL1
|
muscleblind-like splicing regulator 1
|
|
MC4R
|
melanocortin 4 receptor
|
|
MCL1
|
myeloid cell leukemia 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED14
|
mediator complex subunit 14
|
|
MEFV
|
Mediterranean fever
|
|
MIP
|
major intrinsic protein of lens fiber
|
|
MKI67
|
marker of proliferation Ki-67
|
|
MLANA
|
melan-A
|
|
MLH1
|
mutL homolog 1
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP3
|
matrix metallopeptidase 3
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MSH2
|
mutS homolog 2
|
|
MSH3
|
mutS homolog 3
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MUC6
|
mucin 6, oligomeric mucus/gel-forming
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
NAT1
|
N-acetyltransferase 1 (arylamine N-acetyltransferase)
|
|
NAT2
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NFKB1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
|
|
NFKBIA
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NOD1
|
nucleotide-binding oligomerization domain containing 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOS1AP
|
nitric oxide synthase 1 (neuronal) adaptor protein
|
|
NOTCH1
|
notch 1
|
|
NOX4
|
NADPH oxidase 4
|
|
NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
|
|
NPPB
|
natriuretic peptide B
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR1D1
|
nuclear receptor subfamily 1, group D, member 1
|
|
NR4A2
|
nuclear receptor subfamily 4, group A, member 2
|
|
NR5A2
|
nuclear receptor subfamily 5, group A, member 2
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NRG1
|
neuregulin 1
|
|
OLR1
|
oxidized low density lipoprotein (lectin-like) receptor 1
|
|
PDE9A
|
phosphodiesterase 9A
|
|
PECAM1
|
platelet/endothelial cell adhesion molecule 1
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PHOSPHO1
|
phosphatase, orphan 1
|
|
PHOSPHO2
|
phosphatase, orphan 2
|
|
PIM1
|
Pim-1 proto-oncogene, serine/threonine kinase
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PKP2
|
plakophilin 2
|
|
PLA2G2A
|
phospholipase A2, group IIA (platelets, synovial fluid)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLN
|
phospholamban
|
|
PMAIP1
|
phorbol-12-myristate-13-acetate-induced protein 1
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POT1
|
protection of telomeres 1
|
|
POU5F1
|
POU class 5 homeobox 1
|
|
POU5F1B
|
POU class 5 homeobox 1B
|
|
PPM1A
|
protein phosphatase, Mg2+/Mn2+ dependent, 1A
|
|
PPP1R9B
|
protein phosphatase 1, regulatory subunit 9B
|
|
PRKCQ
|
protein kinase C, theta
|
|
PRKDC
|
protein kinase, DNA-activated, catalytic polypeptide
|
|
PRNP
|
prion protein
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PSEN1
|
presenilin 1
|
|
PSIP1
|
PC4 and SFRS1 interacting protein 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PYCARD
|
PYD and CARD domain containing
|
|
RARA
|
retinoic acid receptor, alpha
|
|
RCAN1
|
regulator of calcineurin 1
|
|
RECK
|
reversion-inducing-cysteine-rich protein with kazal motifs
|
|
RHCE
|
Rh blood group, CcEe antigens
|
|
RHD
|
Rh blood group, D antigen
|
|
ROBO1
|
roundabout, axon guidance receptor, homolog 1 (Drosophila)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPA1
|
replication protein A1, 70kDa
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RUNX2
|
runt-related transcription factor 2
|
|
RXRA
|
retinoid X receptor, alpha
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
S100A1
|
S100 calcium binding protein A1
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SELL
|
selectin L
|
|
SERPINB5
|
serpin peptidase inhibitor, clade B (ovalbumin), member 5
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SET
|
SET nuclear proto-oncogene
|
|
SLC11A2
|
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
|
|
SLC14A1
|
solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
|
|
SLC4A4
|
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SMAD2
|
SMAD family member 2
|
|
SMAD4
|
SMAD family member 4
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SPINT1
|
serine peptidase inhibitor, Kunitz type 1
|
|
SRGAP1
|
SLIT-ROBO Rho GTPase activating protein 1
|
|
ST14
|
suppression of tumorigenicity 14 (colon carcinoma)
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STIM1
|
stromal interaction molecule 1
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
TAGAP
|
T-cell activation RhoGTPase activating protein
|
|
TBC1D1
|
TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
|
|
TCERG1
|
transcription elongation regulator 1
|
|
TERT
|
telomerase reverse transcriptase
|
|
TES
|
testin LIM domain protein
|
|
TFPI2
|
tissue factor pathway inhibitor 2
|
|
TFRC
|
transferrin receptor
|
|
TG
|
thyroglobulin
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFB3
|
transforming growth factor, beta 3
|
|
THBS1
|
thrombospondin 1
|
|
TIMP3
|
TIMP metallopeptidase inhibitor 3
|
|
TLR2
|
toll-like receptor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TLR9
|
toll-like receptor 9
|
|
TNF
|
tumor necrosis factor
|
|
TNFAIP6
|
tumor necrosis factor, alpha-induced protein 6
|
|
TNFSF10
|
tumor necrosis factor (ligand) superfamily, member 10
|
|
TNMD
|
tenomodulin
|
|
TOP1
|
topoisomerase (DNA) I
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TPO
|
thyroid peroxidase
|
|
TRAPPC4
|
trafficking protein particle complex 4
|
|
TRIM21
|
tripartite motif containing 21
|
|
TROVE2
|
TROVE domain family, member 2
|
|
TTN
|
titin
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UGDH
|
UDP-glucose 6-dehydrogenase
|
|
VAMP2
|
vesicle-associated membrane protein 2 (synaptobrevin 2)
|
|
VCP
|
valosin containing protein
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
WDR77
|
WD repeat domain 77
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WWTR1
|
WW domain containing transcription regulator 1
|
|
XPO1
|
exportin 1
|
|
XRCC3
|
X-ray repair complementing defective repair in Chinese hamster cells 3
|
|
YAP1
|
Yes-associated protein 1
|
|
ZNF266
|
zinc finger protein 266
|
