| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ABLIM3
|
actin binding LIM protein family, member 3
|
|
ADCY5
|
adenylate cyclase 5
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADM
|
adrenomedullin
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
AKAP13
|
A kinase (PRKA) anchor protein 13
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
AMH
|
anti-Mullerian hormone
|
|
ANO1
|
anoctamin 1, calcium activated chloride channel
|
|
ANO2
|
anoctamin 2, calcium activated chloride channel
|
|
APC
|
adenomatous polyposis coli
|
|
APOA1
|
apolipoprotein A-I
|
|
AR
|
androgen receptor
|
|
ARHGEF10
|
Rho guanine nucleotide exchange factor (GEF) 10
|
|
ARR3
|
arrestin 3, retinal (X-arrestin)
|
|
ARRB2
|
arrestin, beta 2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATXN1
|
ataxin 1
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
AVP
|
arginine vasopressin
|
|
AVPR1A
|
arginine vasopressin receptor 1A
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B2M
|
beta-2-microglobulin
|
|
BAX
|
BCL2-associated X protein
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCO2
|
beta-carotene oxygenase 2
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C3
|
complement component 3
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CABP1
|
calcium binding protein 1
|
|
CALCR
|
calcitonin receptor
|
|
CASP6
|
caspase 6, apoptosis-related cysteine peptidase
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CCR7
|
chemokine (C-C motif) receptor 7
|
|
CD200
|
CD200 molecule
|
|
CD209
|
CD209 molecule
|
|
CD300C
|
CD300c molecule
|
|
CD36
|
CD36 molecule (thrombospondin receptor)
|
|
CD4
|
CD4 molecule
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDK5
|
cyclin-dependent kinase 5
|
|
CDK5R1
|
cyclin-dependent kinase 5, regulatory subunit 1 (p35)
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDX2
|
caudal type homeobox 2
|
|
CERKL
|
ceramide kinase-like
|
|
CHMP1B
|
charged multivesicular body protein 1B
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CHRNB2
|
cholinergic receptor, nicotinic, beta 2 (neuronal)
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COMT
|
catechol-O-methyltransferase
|
|
CRHR1
|
corticotropin releasing hormone receptor 1
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CSF2
|
colony stimulating factor 2 (granulocyte-macrophage)
|
|
CST3
|
cystatin C
|
|
CTSA
|
cathepsin A
|
|
CX3CR1
|
chemokine (C-X3-C motif) receptor 1
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYLD
|
cylindromatosis (turban tumor syndrome)
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
|
DCC
|
DCC netrin 1 receptor
|
|
DEFA1
|
defensin, alpha 1
|
|
DEFA3
|
defensin, alpha 3, neutrophil-specific
|
|
DFNB55
|
deafness, autosomal recessive 55
|
|
DHX9
|
DEAH (Asp-Glu-Ala-His) box helicase 9
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLG4
|
discs, large homolog 4 (Drosophila)
|
|
DMD
|
dystrophin
|
|
DRD1
|
dopamine receptor D1
|
|
DRD2
|
dopamine receptor D2
|
|
DSPP
|
dentin sialophosphoprotein
|
|
DYSF
|
dysferlin
|
|
EGFR
|
epidermal growth factor receptor
|
|
EGR1
|
early growth response 1
|
|
ELAVL4
|
ELAV like neuron-specific RNA binding protein 4
|
|
ERG
|
v-ets avian erythroblastosis virus E26 oncogene homolog
|
|
ETV6
|
ets variant 6
|
|
F11
|
coagulation factor XI
|
|
F2
|
coagulation factor II (thrombin)
|
|
F3
|
coagulation factor III (thromboplastin, tissue factor)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FABP3
|
fatty acid binding protein 3, muscle and heart
|
|
FAN1
|
FANCD2/FANCI-associated nuclease 1
|
|
FBN1
|
fibrillin 1
|
|
FGF2
|
fibroblast growth factor 2 (basic)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FLT1
|
fms-related tyrosine kinase 1
|
|
FLT4
|
fms-related tyrosine kinase 4
|
|
FN1
|
fibronectin 1
|
|
FPR1
|
formyl peptide receptor 1
|
|
FPR2
|
formyl peptide receptor 2
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GADD45B
|
growth arrest and DNA-damage-inducible, beta
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA3
|
gap junction protein, alpha 3, 46kDa
|
|
GKN1
|
gastrokine 1
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLRB
|
glycine receptor, beta
|
|
GNAI1
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1
|
|
GNB3
|
guanine nucleotide binding protein (G protein), beta polypeptide 3
|
|
GOLGA3
|
golgin A3
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GP9
|
glycoprotein IX (platelet)
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GPR50
|
G protein-coupled receptor 50
|
|
GRN
|
granulin
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GZMM
|
granzyme M (lymphocyte met-ase 1)
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HABP2
|
hyaluronan binding protein 2
|
|
HBB
|
hemoglobin, beta
|
|
HDAC9
|
histone deacetylase 9
|
|
HEYL
|
hes-related family bHLH transcription factor with YRPW motif-like
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HNRNPK
|
heterogeneous nuclear ribonucleoprotein K
|
|
HOXA11
|
homeobox A11
|
|
HOXA13
|
homeobox A13
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
HTR2A
|
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
|
|
HTR3A
|
5-hydroxytryptamine (serotonin) receptor 3A, ionotropic
|
|
IGF2
|
insulin-like growth factor 2
|
|
IGFBP1
|
insulin-like growth factor binding protein 1
|
|
IGFBP3
|
insulin-like growth factor binding protein 3
|
|
IGFBP6
|
insulin-like growth factor binding protein 6
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL10
|
interleukin 10
|
|
IL15
|
interleukin 15
|
|
IL17A
|
interleukin 17A
|
|
IL18
|
interleukin 18
|
|
IL18R1
|
interleukin 18 receptor 1
|
|
IL1B
|
interleukin 1, beta
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IL2RA
|
interleukin 2 receptor, alpha
|
|
IL4
|
interleukin 4
|
|
INHBA
|
inhibin, beta A
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KDM5B
|
lysine (K)-specific demethylase 5B
|
|
KDR
|
kinase insert domain receptor
|
|
KIF21A
|
kinesin family member 21A
|
|
KIF5B
|
kinesin family member 5B
|
|
KISS1
|
KiSS-1 metastasis-suppressor
|
|
KLHL3
|
kelch-like family member 3
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KPNA2
|
karyopherin alpha 2 (RAG cohort 1, importin alpha 1)
|
|
KPNB1
|
karyopherin (importin) beta 1
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LCT
|
lactase
|
|
LEP
|
leptin
|
|
LGALS1
|
lectin, galactoside-binding, soluble, 1
|
|
LGALS13
|
lectin, galactoside-binding, soluble, 13
|
|
LRPAP1
|
low density lipoprotein receptor-related protein associated protein 1
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LTB4R
|
leukotriene B4 receptor
|
|
MAF
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPK3
|
mitogen-activated protein kinase 3
|
|
MAPT
|
microtubule-associated protein tau
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MC4R
|
melanocortin 4 receptor
|
|
MCM2
|
minichromosome maintenance complex component 2
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MICA
|
MHC class I polypeptide-related sequence A
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MLLT1
|
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1
|
|
MMP12
|
matrix metallopeptidase 12
|
|
MMP3
|
matrix metallopeptidase 3
|
|
MMP8
|
matrix metallopeptidase 8
|
|
MSH2
|
mutS homolog 2
|
|
MSX1
|
msh homeobox 1
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MUC16
|
mucin 16, cell surface associated
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYO7A
|
myosin VIIA
|
|
NAA50
|
N(alpha)-acetyltransferase 50, NatE catalytic subunit
|
|
NAMPT
|
nicotinamide phosphoribosyltransferase
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NFATC1
|
nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
|
|
NFATC2
|
nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
|
|
NRXN1
|
neurexin 1
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OPA5
|
optic atrophy 5 (autosomal dominant)
|
|
OPRD1
|
opioid receptor, delta 1
|
|
OPRM1
|
opioid receptor, mu 1
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
OTOF
|
otoferlin
|
|
OXTR
|
oxytocin receptor
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PARK7
|
parkinson protein 7
|
|
PARP1
|
poly (ADP-ribose) polymerase 1
|
|
PAX9
|
paired box 9
|
|
PCBP2
|
poly(rC) binding protein 2
|
|
PDCD1
|
programmed cell death 1
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDIA2
|
protein disulfide isomerase family A, member 2
|
|
PEG10
|
paternally expressed 10
|
|
PGF
|
placental growth factor
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PLAU
|
plasminogen activator, urokinase
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
PPARD
|
peroxisome proliferator-activated receptor delta
|
|
PRAME
|
preferentially expressed antigen in melanoma
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDX2
|
peroxiredoxin 2
|
|
PRKAG2
|
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PROS1
|
protein S (alpha)
|
|
PROZ
|
protein Z, vitamin K-dependent plasma glycoprotein
|
|
PRPF3
|
pre-mRNA processing factor 3
|
|
PRTN3
|
proteinase 3
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTGDS
|
prostaglandin D2 synthase 21kDa (brain)
|
|
PTGER4
|
prostaglandin E receptor 4 (subtype EP4)
|
|
PTGIR
|
prostaglandin I2 (prostacyclin) receptor (IP)
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTH
|
parathyroid hormone
|
|
PTPN3
|
protein tyrosine phosphatase, non-receptor type 3
|
|
PTPRS
|
protein tyrosine phosphatase, receptor type, S
|
|
RARRES2
|
retinoic acid receptor responder (tazarotene induced) 2
|
|
RBP4
|
retinol binding protein 4, plasma
|
|
REN
|
renin
|
|
RFXAP
|
regulatory factor X-associated protein
|
|
RGS7
|
regulator of G-protein signaling 7
|
|
RMI1
|
RecQ mediated genome instability 1
|
|
RPS26
|
ribosomal protein S26
|
|
S100A16
|
S100 calcium binding protein A16
|
|
S100B
|
S100 calcium binding protein B
|
|
SATB1
|
SATB homeobox 1
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPINB3
|
serpin peptidase inhibitor, clade B (ovalbumin), member 3
|
|
SH3KBP1
|
SH3-domain kinase binding protein 1
|
|
SHBG
|
sex hormone-binding globulin
|
|
SHOX
|
short stature homeobox
|
|
SLC10A1
|
solute carrier family 10 (sodium/bile acid cotransporter), member 1
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC17A1
|
solute carrier family 17 (organic anion transporter), member 1
|
|
SLC44A2
|
solute carrier family 44 (choline transporter), member 2
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SMAD3
|
SMAD family member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SPARC
|
secreted protein, acidic, cysteine-rich (osteonectin)
|
|
SPAST
|
spastin
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPINK7
|
serine peptidase inhibitor, Kazal type 7 (putative)
|
|
SSTR1
|
somatostatin receptor 1
|
|
STIM1
|
stromal interaction molecule 1
|
|
SYNJ1
|
synaptojanin 1
|
|
TAC3
|
tachykinin 3
|
|
TBCB
|
tubulin folding cofactor B
|
|
TBXA2R
|
thromboxane A2 receptor
|
|
TFPI
|
tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
|
|
TIMP2
|
TIMP metallopeptidase inhibitor 2
|
|
TJP1
|
tight junction protein 1
|
|
TLR3
|
toll-like receptor 3
|
|
TLR4
|
toll-like receptor 4
|
|
TMPRSS2
|
transmembrane protease, serine 2
|
|
TNC
|
tenascin C
|
|
TNF
|
tumor necrosis factor
|
|
TOP3A
|
topoisomerase (DNA) III alpha
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TP53
|
tumor protein p53
|
|
TRPV6
|
transient receptor potential cation channel, subfamily V, member 6
|
|
TXNDC5
|
thioredoxin domain containing 5 (endoplasmic reticulum)
|
|
UTS2
|
urotensin 2
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VIPR1
|
vasoactive intestinal peptide receptor 1
|
|
VKORC1
|
vitamin K epoxide reductase complex, subunit 1
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VWF
|
von Willebrand factor
|
|
WT1
|
Wilms tumor 1
|
|
ZNF674
|
zinc finger protein 674
|
