| Symbol |
Name |
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ACAN
|
aggrecan
|
|
ACKR1
|
atypical chemokine receptor 1 (Duffy blood group)
|
|
ADORA3
|
adenosine A3 receptor
|
|
AFP
|
alpha-fetoprotein
|
|
AGA
|
aspartylglucosaminidase
|
|
AGK
|
acylglycerol kinase
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
AIRE
|
autoimmune regulator
|
|
AKAP5
|
A kinase (PRKA) anchor protein 5
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
ANGPTL4
|
angiopoietin-like 4
|
|
ANXA2
|
annexin A2
|
|
AP2A1
|
adaptor-related protein complex 2, alpha 1 subunit
|
|
APOC1
|
apolipoprotein C-I
|
|
APOE
|
apolipoprotein E
|
|
APOH
|
apolipoprotein H (beta-2-glycoprotein I)
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AR
|
androgen receptor
|
|
ASPA
|
aspartoacylase
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
ATXN1
|
ataxin 1
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
AVP
|
arginine vasopressin
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCL6
|
B-cell CLL/lymphoma 6
|
|
BCR
|
breakpoint cluster region
|
|
BIRC5
|
baculoviral IAP repeat containing 5
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BPI
|
bactericidal/permeability-increasing protein
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BST2
|
bone marrow stromal cell antigen 2
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CASP3
|
caspase 3, apoptosis-related cysteine peptidase
|
|
CASP9
|
caspase 9, apoptosis-related cysteine peptidase
|
|
CASR
|
calcium-sensing receptor
|
|
CCDC86
|
coiled-coil domain containing 86
|
|
CCL5
|
chemokine (C-C motif) ligand 5
|
|
CCR1
|
chemokine (C-C motif) receptor 1
|
|
CCR9
|
chemokine (C-C motif) receptor 9
|
|
CD1A
|
CD1a molecule
|
|
CD1B
|
CD1b molecule
|
|
CD1C
|
CD1c molecule
|
|
CD1D
|
CD1d molecule
|
|
CD1E
|
CD1e molecule
|
|
CD207
|
CD207 molecule, langerin
|
|
CD209
|
CD209 molecule
|
|
CD36
|
CD36 molecule (thrombospondin receptor)
|
|
CD44
|
CD44 molecule (Indian blood group)
|
|
CD5
|
CD5 molecule
|
|
CD74
|
CD74 molecule, major histocompatibility complex, class II invariant chain
|
|
CD80
|
CD80 molecule
|
|
CD81
|
CD81 molecule
|
|
CD86
|
CD86 molecule
|
|
CD8A
|
CD8a molecule
|
|
CD9
|
CD9 molecule
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CEACAM5
|
carcinoembryonic antigen-related cell adhesion molecule 5
|
|
CFH
|
complement factor H
|
|
CFI
|
complement factor I
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CGA
|
glycoprotein hormones, alpha polypeptide
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLIP1
|
CAP-GLY domain containing linker protein 1
|
|
COL10A1
|
collagen, type X, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CRYGD
|
crystallin, gamma D
|
|
CSF2
|
colony stimulating factor 2 (granulocyte-macrophage)
|
|
CSMD1
|
CUB and Sushi multiple domains 1
|
|
CST3
|
cystatin C
|
|
CTAG1B
|
cancer/testis antigen 1B
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNBIP1
|
catenin, beta interacting protein 1
|
|
CTSD
|
cathepsin D
|
|
CTSG
|
cathepsin G
|
|
CTSS
|
cathepsin S
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYLD
|
cylindromatosis (turban tumor syndrome)
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DDB1
|
damage-specific DNA binding protein 1, 127kDa
|
|
DEPDC5
|
DEP domain containing 5
|
|
DKK1
|
dickkopf WNT signaling pathway inhibitor 1
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
EGF
|
epidermal growth factor
|
|
EGFR
|
epidermal growth factor receptor
|
|
EIF2B2
|
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
|
|
ENG
|
endoglin
|
|
EPAS1
|
endothelial PAS domain protein 1
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
ERAP1
|
endoplasmic reticulum aminopeptidase 1
|
|
ERAP2
|
endoplasmic reticulum aminopeptidase 2
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ETV6
|
ets variant 6
|
|
F2
|
coagulation factor II (thrombin)
|
|
F3
|
coagulation factor III (thromboplastin, tissue factor)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FCGR1A
|
Fc fragment of IgG, high affinity Ia, receptor (CD64)
|
|
FCGR2A
|
Fc fragment of IgG, low affinity IIa, receptor (CD32)
|
|
FCGR3B
|
Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
|
|
FCGRT
|
Fc fragment of IgG, receptor, transporter, alpha
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGF2
|
fibroblast growth factor 2 (basic)
|
|
FGG
|
fibrinogen gamma chain
|
|
FHL1
|
four and a half LIM domains 1
|
|
FLG
|
filaggrin
|
|
FLT1
|
fms-related tyrosine kinase 1
|
|
FLT3
|
fms-related tyrosine kinase 3
|
|
FLT3LG
|
fms-related tyrosine kinase 3 ligand
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXP1
|
forkhead box P1
|
|
GAD2
|
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
|
|
GBA
|
glucosidase, beta, acid
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GRM6
|
glutamate receptor, metabotropic 6
|
|
GRN
|
granulin
|
|
HAS1
|
hyaluronan synthase 1
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HDAC5
|
histone deacetylase 5
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HFE
|
hemochromatosis
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-C
|
major histocompatibility complex, class I, C
|
|
HLA-DMB
|
major histocompatibility complex, class II, DM beta
|
|
HLA-DOA
|
major histocompatibility complex, class II, DO alpha
|
|
HLA-DOB
|
major histocompatibility complex, class II, DO beta
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLA-DRB3
|
major histocompatibility complex, class II, DR beta 3
|
|
HLA-G
|
major histocompatibility complex, class I, G
|
|
HMGB1
|
high mobility group box 1
|
|
HMHA1
|
histocompatibility (minor) HA-1
|
|
HNF1B
|
HNF1 homeobox B
|
|
HTR1A
|
5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
|
|
HTT
|
huntingtin
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
ICOSLG
|
inducible T-cell co-stimulator ligand
|
|
IFI30
|
interferon, gamma-inducible protein 30
|
|
IFNAR1
|
interferon (alpha, beta and omega) receptor 1
|
|
IFNG
|
interferon, gamma
|
|
IGFALS
|
insulin-like growth factor binding protein, acid labile subunit
|
|
IGH
|
immunoglobulin heavy locus
|
|
IKZF1
|
IKAROS family zinc finger 1 (Ikaros)
|
|
IL10
|
interleukin 10
|
|
IL12A
|
interleukin 12A
|
|
IL18
|
interleukin 18
|
|
IL1A
|
interleukin 1, alpha
|
|
IL4
|
interleukin 4
|
|
IL6
|
interleukin 6
|
|
INHBA
|
inhibin, beta A
|
|
INS
|
insulin
|
|
INSR
|
insulin receptor
|
|
IRF4
|
interferon regulatory factor 4
|
|
ITGB4
|
integrin, beta 4
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
JAK2
|
Janus kinase 2
|
|
JAM3
|
junctional adhesion molecule 3
|
|
JUN
|
jun proto-oncogene
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNA3
|
potassium channel, voltage gated shaker related subfamily A, member 3
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KCNN4
|
potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LAPTM5
|
lysosomal protein transmembrane 5
|
|
LDLR
|
low density lipoprotein receptor
|
|
LHX4
|
LIM homeobox 4
|
|
LNPEP
|
leucyl/cystinyl aminopeptidase
|
|
LOR
|
loricrin
|
|
LRP1
|
low density lipoprotein receptor-related protein 1
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPK3
|
mitogen-activated protein kinase 3
|
|
MAPT
|
microtubule-associated protein tau
|
|
MARCH1
|
membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase
|
|
MEFV
|
Mediterranean fever
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MLH1
|
mutL homolog 1
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP3
|
matrix metallopeptidase 3
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MPZ
|
myelin protein zero
|
|
MR1
|
major histocompatibility complex, class I-related
|
|
MRC1
|
mannose receptor, C type 1
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MT-TL1
|
tRNA
|
|
MT-TV
|
tRNA
|
|
MTO1
|
mitochondrial tRNA translation optimization 1
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MUC1
|
mucin 1, cell surface associated
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
MYL3
|
myosin, light chain 3, alkali; ventricular, skeletal, slow
|
|
MYOD1
|
myogenic differentiation 1
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NOTCH1
|
notch 1
|
|
NOTCH3
|
notch 3
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
|
|
NPR3
|
natriuretic peptide receptor 3
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
OLR1
|
oxidized low density lipoprotein (lectin-like) receptor 1
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAPPA
|
pregnancy-associated plasma protein A, pappalysin 1
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PCSK7
|
proprotein convertase subtilisin/kexin type 7
|
|
PDIA2
|
protein disulfide isomerase family A, member 2
|
|
PDIA3
|
protein disulfide isomerase family A, member 3
|
|
PF4
|
platelet factor 4
|
|
PLA2G7
|
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
|
|
PLP1
|
proteolipid protein 1
|
|
PMEL
|
premelanosome protein
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPIP5K2
|
diphosphoinositol pentakisphosphate kinase 2
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRNP
|
prion protein
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRTN3
|
proteinase 3
|
|
PSEN1
|
presenilin 1
|
|
PSMB10
|
proteasome (prosome, macropain) subunit, beta type, 10
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PSMB9
|
proteasome (prosome, macropain) subunit, beta type, 9
|
|
PSMD4
|
proteasome (prosome, macropain) 26S subunit, non-ATPase, 4
|
|
PSME1
|
proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)
|
|
PSME2
|
proteasome (prosome, macropain) activator subunit 2 (PA28 beta)
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTK2
|
protein tyrosine kinase 2
|
|
PTP4A3
|
protein tyrosine phosphatase type IVA, member 3
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAG1
|
recombination activating gene 1
|
|
RAI1
|
retinoic acid induced 1
|
|
RET
|
ret proto-oncogene
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
ROCK1
|
Rho-associated, coiled-coil containing protein kinase 1
|
|
ROCK2
|
Rho-associated, coiled-coil containing protein kinase 2
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RS1
|
retinoschisin 1
|
|
RUNX1
|
runt-related transcription factor 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SACS
|
sacsin molecular chaperone
|
|
SCIMP
|
SLP adaptor and CSK interacting membrane protein
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SDCCAG3
|
serologically defined colon cancer antigen 3
|
|
SEC23B
|
Sec23 homolog B (S. cerevisiae)
|
|
SELPLG
|
selectin P ligand
|
|
SEPN1
|
selenoprotein N, 1
|
|
SERBP1
|
SERPINE1 mRNA binding protein 1
|
|
SFRP1
|
secreted frizzled-related protein 1
|
|
SFTPB
|
surfactant protein B
|
|
SFTPC
|
surfactant protein C
|
|
SHBG
|
sex hormone-binding globulin
|
|
SLC13A5
|
solute carrier family 13 (sodium-dependent citrate transporter), member 5
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC30A8
|
solute carrier family 30 (zinc transporter), member 8
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC5A1
|
solute carrier family 5 (sodium/glucose cotransporter), member 1
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNAI1
|
snail family zinc finger 1
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STXBP2
|
syntaxin binding protein 2
|
|
TAAR6
|
trace amine associated receptor 6
|
|
TAP1
|
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
|
|
TAP2
|
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
|
|
TAPBP
|
TAP binding protein (tapasin)
|
|
TARDBP
|
TAR DNA binding protein
|
|
TBP
|
TATA box binding protein
|
|
TFE3
|
transcription factor binding to IGHM enhancer 3
|
|
TH
|
tyrosine hydroxylase
|
|
THBD
|
thrombomodulin
|
|
TICAM1
|
toll-like receptor adaptor molecule 1
|
|
TLR2
|
toll-like receptor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TLR9
|
toll-like receptor 9
|
|
TM4SF1
|
transmembrane 4 L six family member 1
|
|
TMEM106B
|
transmembrane protein 106B
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TP53
|
tumor protein p53
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRD
|
T cell receptor delta locus
|
|
TRG
|
T cell receptor gamma locus
|
|
TRNE
|
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TYR
|
tyrosinase
|
|
UBC
|
ubiquitin C
|
|
UBD
|
ubiquitin D
|
|
VARS2
|
valyl-tRNA synthetase 2, mitochondrial
|
|
VASP
|
vasodilator-stimulated phosphoprotein
|
|
VCAM1
|
vascular cell adhesion molecule 1
|
|
VCP
|
valosin containing protein
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VNN2
|
vanin 2
|
|
WDR35
|
WD repeat domain 35
|
|
WT1
|
Wilms tumor 1
|
|
XPO1
|
exportin 1
|
|
YBX1
|
Y box binding protein 1
|
