| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCG8
|
ATP-binding cassette, sub-family G (WHITE), member 8
|
|
ACACA
|
acetyl-CoA carboxylase alpha
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACHE
|
acetylcholinesterase (Yt blood group)
|
|
ACPP
|
acid phosphatase, prostate
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADM
|
adrenomedullin
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AGR2
|
anterior gradient 2
|
|
ALB
|
albumin
|
|
ALOX5
|
arachidonate 5-lipoxygenase
|
|
ANO10
|
anoctamin 10
|
|
APEX1
|
APEX nuclease (multifunctional DNA repair enzyme) 1
|
|
APOA5
|
apolipoprotein A-V
|
|
APOD
|
apolipoprotein D
|
|
APOE
|
apolipoprotein E
|
|
ARHGEF5
|
Rho guanine nucleotide exchange factor (GEF) 5
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
BAX
|
BCL2-associated X protein
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BIRC2
|
baculoviral IAP repeat containing 2
|
|
BMP7
|
bone morphogenetic protein 7
|
|
BRCA1
|
breast cancer 1, early onset
|
|
C1QA
|
complement component 1, q subcomponent, A chain
|
|
C1QB
|
complement component 1, q subcomponent, B chain
|
|
C1QC
|
complement component 1, q subcomponent, C chain
|
|
C3
|
complement component 3
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C4B
|
complement component 4B (Chido blood group)
|
|
C5
|
complement component 5
|
|
C9
|
complement component 9
|
|
CAMP
|
cathelicidin antimicrobial peptide
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CD14
|
CD14 molecule
|
|
CD1C
|
CD1c molecule
|
|
CD24
|
CD24 molecule
|
|
CD274
|
CD274 molecule
|
|
CD36
|
CD36 molecule (thrombospondin receptor)
|
|
CD40LG
|
CD40 ligand
|
|
CD63
|
CD63 molecule
|
|
CD83
|
CD83 molecule
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDH5
|
cadherin 5, type 2 (vascular endothelium)
|
|
CEACAM5
|
carcinoembryonic antigen-related cell adhesion molecule 5
|
|
CFH
|
complement factor H
|
|
CLC
|
Charcot-Leyden crystal galectin
|
|
CLCN4
|
chloride channel, voltage-sensitive 4
|
|
CLEC4C
|
C-type lectin domain family 4, member C
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
CLOCK
|
clock circadian regulator
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A2
|
collagen, type IV, alpha 2
|
|
CPB2
|
carboxypeptidase B2 (plasma)
|
|
CR1
|
complement component (3b/4b) receptor 1 (Knops blood group)
|
|
CRY2
|
cryptochrome circadian clock 2
|
|
CRYBA2
|
crystallin, beta A2
|
|
CTSC
|
cathepsin C
|
|
CTSS
|
cathepsin S
|
|
CXCL10
|
chemokine (C-X-C motif) ligand 10
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP26B1
|
cytochrome P450, family 26, subfamily B, polypeptide 1
|
|
CYP2A6
|
cytochrome P450, family 2, subfamily A, polypeptide 6
|
|
CYP2D6
|
cytochrome P450, family 2, subfamily D, polypeptide 6
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DDX3X
|
DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
|
|
DFNB59
|
deafness, autosomal recessive 59
|
|
DGKE
|
diacylglycerol kinase, epsilon 64kDa
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DMBT1
|
deleted in malignant brain tumors 1
|
|
DNAH5
|
dynein, axonemal, heavy chain 5
|
|
DRD2
|
dopamine receptor D2
|
|
DRD4
|
dopamine receptor D4
|
|
DRD5
|
dopamine receptor D5
|
|
DST
|
dystonin
|
|
EDA
|
ectodysplasin A
|
|
EGFR
|
epidermal growth factor receptor
|
|
ERAP1
|
endoplasmic reticulum aminopeptidase 1
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERG
|
v-ets avian erythroblastosis virus E26 oncogene homolog
|
|
ESR1
|
estrogen receptor 1
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
F11
|
coagulation factor XI
|
|
F12
|
coagulation factor XII (Hageman factor)
|
|
F13A1
|
coagulation factor XIII, A1 polypeptide
|
|
F2
|
coagulation factor II (thrombin)
|
|
F2R
|
coagulation factor II (thrombin) receptor
|
|
F2RL3
|
coagulation factor II (thrombin) receptor-like 3
|
|
F3
|
coagulation factor III (thromboplastin, tissue factor)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FADS1
|
fatty acid desaturase 1
|
|
FADS2
|
fatty acid desaturase 2
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FCGR2A
|
Fc fragment of IgG, low affinity IIa, receptor (CD32)
|
|
FCGR3A
|
Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
|
|
FCN3
|
ficolin (collagen/fibrinogen domain containing) 3
|
|
FGB
|
fibrinogen beta chain
|
|
FGF18
|
fibroblast growth factor 18
|
|
FGF21
|
fibroblast growth factor 21
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FH
|
fumarate hydratase
|
|
FLNA
|
filamin A, alpha
|
|
FRAXE
|
fragile site, folic acid type, rare, fra(X)(q28) E
|
|
GABRE
|
gamma-aminobutyric acid (GABA) A receptor, epsilon
|
|
GATA4
|
GATA binding protein 4
|
|
GDF5
|
growth differentiation factor 5
|
|
GHRL
|
ghrelin/obestatin prepropeptide
|
|
GHSR
|
growth hormone secretagogue receptor
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLO1
|
glyoxalase I
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GP6
|
glycoprotein VI (platelet)
|
|
GRHL3
|
grainyhead-like 3 (Drosophila)
|
|
GRIK2
|
glutamate receptor, ionotropic, kainate 2
|
|
GRN
|
granulin
|
|
GSK3B
|
glycogen synthase kinase 3 beta
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
GZMB
|
granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBE1
|
hemoglobin, epsilon 1
|
|
HCN4
|
hyperpolarization activated cyclic nucleotide gated potassium channel 4
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HIST4H4
|
histone cluster 4, H4
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HNF1B
|
HNF1 homeobox B
|
|
HRH2
|
histamine receptor H2
|
|
HRH4
|
histamine receptor H4
|
|
HSP90B1
|
heat shock protein 90kDa beta (Grp94), member 1
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IFI27
|
interferon, alpha-inducible protein 27
|
|
IFNG
|
interferon, gamma
|
|
IGHA1
|
immunoglobulin heavy constant alpha 1
|
|
IL10
|
interleukin 10
|
|
IL12B
|
interleukin 12B
|
|
IL18
|
interleukin 18
|
|
IL1A
|
interleukin 1, alpha
|
|
IL1B
|
interleukin 1, beta
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IL2RA
|
interleukin 2 receptor, alpha
|
|
IL3RA
|
interleukin 3 receptor, alpha (low affinity)
|
|
IL6
|
interleukin 6
|
|
IL7R
|
interleukin 7 receptor
|
|
ITGAM
|
integrin, alpha M (complement component 3 receptor 3 subunit)
|
|
ITGAV
|
integrin, alpha V
|
|
ITGAX
|
integrin, alpha X (complement component 3 receptor 4 subunit)
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
KCNC1
|
potassium channel, voltage gated Shaw related subfamily C, member 1
|
|
KCNC2
|
potassium channel, voltage gated Shaw related subfamily C, member 2
|
|
KCNC4
|
potassium channel, voltage gated Shaw related subfamily C, member 4
|
|
KCNH5
|
potassium channel, voltage gated eag related subfamily H, member 5
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KEL
|
Kell blood group, metallo-endopeptidase
|
|
KIAA0226
|
KIAA0226
|
|
KLK4
|
kallikrein-related peptidase 4
|
|
LEP
|
leptin
|
|
LEPR
|
leptin receptor
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
LY96
|
lymphocyte antigen 96
|
|
MAOA
|
monoamine oxidase A
|
|
MAPK14
|
mitogen-activated protein kinase 14
|
|
MAPT
|
microtubule-associated protein tau
|
|
MCAM
|
melanoma cell adhesion molecule
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MIR1260A
|
microRNA 1260a
|
|
MIR146A
|
microRNA 146a
|
|
MIR155
|
microRNA 155
|
|
MIR186
|
microRNA 186
|
|
MIR21
|
microRNA 21
|
|
MIR223
|
microRNA 223
|
|
MIR26A1
|
microRNA 26a-1
|
|
MIR328
|
microRNA 328
|
|
MIR335
|
microRNA 335
|
|
MIR3651
|
microRNA 3651
|
|
MIR494
|
microRNA 494
|
|
MIR576
|
microRNA 576
|
|
MIR628
|
microRNA 628
|
|
MIR664A
|
microRNA 664a
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MMP13
|
matrix metallopeptidase 13
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MPO
|
myeloperoxidase
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MUC16
|
mucin 16, cell surface associated
|
|
MX1
|
MX dynamin-like GTPase 1
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
MYP3
|
myopia 3 (high grade, autosomal dominant)
|
|
NAIP
|
NLR family, apoptosis inhibitory protein
|
|
NEK2
|
NIMA-related kinase 2
|
|
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
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NOTCH3
|
notch 3
|
|
NOX4
|
NADPH oxidase 4
|
|
NPAS2
|
neuronal PAS domain protein 2
|
|
NPPB
|
natriuretic peptide B
|
|
NPY
|
neuropeptide Y
|
|
NUP98
|
nucleoporin 98kDa
|
|
ODC1
|
ornithine decarboxylase 1
|
|
OLIG2
|
oligodendrocyte lineage transcription factor 2
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OTX2
|
orthodenticle homeobox 2
|
|
OXTR
|
oxytocin receptor
|
|
PAX3
|
paired box 3
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
PDPN
|
podoplanin
|
|
PECAM1
|
platelet/endothelial cell adhesion molecule 1
|
|
PER1
|
period circadian clock 1
|
|
PER2
|
period circadian clock 2
|
|
PGC
|
progastricsin (pepsinogen C)
|
|
PGR
|
progesterone receptor
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PI3
|
peptidase inhibitor 3, skin-derived
|
|
PLAT
|
plasminogen activator, tissue
|
|
PLEK2
|
pleckstrin 2
|
|
PLG
|
plasminogen
|
|
PLIN2
|
perilipin 2
|
|
POU4F3
|
POU class 4 homeobox 3
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PTGER3
|
prostaglandin E receptor 3 (subtype EP3)
|
|
PTGER4
|
prostaglandin E receptor 4 (subtype EP4)
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTH
|
parathyroid hormone
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
RAG1
|
recombination activating gene 1
|
|
RB1
|
retinoblastoma 1
|
|
RELN
|
reelin
|
|
RORA
|
RAR-related orphan receptor A
|
|
RPL22
|
ribosomal protein L22
|
|
RPSA
|
ribosomal protein SA
|
|
RTN2
|
reticulon 2
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
S100A9
|
S100 calcium binding protein A9
|
|
SACS
|
sacsin molecular chaperone
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SCD
|
stearoyl-CoA desaturase (delta-9-desaturase)
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
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
|
|
SH2D1A
|
SH2 domain containing 1A
|
|
SHMT1
|
serine hydroxymethyltransferase 1 (soluble)
|
|
SIRT1
|
sirtuin 1
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC25A22
|
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
|
|
SLC2A4
|
solute carrier family 2 (facilitated glucose transporter), member 4
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SOCS3
|
suppressor of cytokine signaling 3
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
SOD3
|
superoxide dismutase 3, extracellular
|
|
SORL1
|
sortilin-related receptor, L(DLR class) A repeats containing
|
|
SOST
|
sclerostin
|
|
SPP1
|
secreted phosphoprotein 1
|
|
SPTB
|
spectrin, beta, erythrocytic
|
|
SREBF1
|
sterol regulatory element binding transcription factor 1
|
|
SREBF2
|
sterol regulatory element binding transcription factor 2
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
SYT1
|
synaptotagmin I
|
|
SYT14
|
synaptotagmin XIV
|
|
TARDBP
|
TAR DNA binding protein
|
|
TENM1
|
teneurin transmembrane protein 1
|
|
TFAM
|
transcription factor A, mitochondrial
|
|
TFF3
|
trefoil factor 3 (intestinal)
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGM6
|
transglutaminase 6
|
|
THBD
|
thrombomodulin
|
|
TLN1
|
talin 1
|
|
TLN2
|
talin 2
|
|
TLR2
|
toll-like receptor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TLR7
|
toll-like receptor 7
|
|
TMPRSS2
|
transmembrane protease, serine 2
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF10D
|
tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TOP2A
|
topoisomerase (DNA) II alpha 170kDa
|
|
TP53
|
tumor protein p53
|
|
TPM1
|
tropomyosin 1 (alpha)
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
UNG
|
uracil-DNA glycosylase
|
|
VCL
|
vinculin
|
|
VCP
|
valosin containing protein
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VPS54
|
vacuolar protein sorting 54 homolog (S. cerevisiae)
|
|
VWF
|
von Willebrand factor
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZFPM2
|
zinc finger protein, FOG family member 2
|
