| Symbol |
Name |
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
AGER
|
advanced glycosylation end product-specific receptor
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AICDA
|
activation-induced cytidine deaminase
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
AMELX
|
amelogenin, X-linked
|
|
AMHR2
|
anti-Mullerian hormone receptor, type II
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
AP2M1
|
adaptor-related protein complex 2, mu 1 subunit
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
BCL2L13
|
BCL2-like 13 (apoptosis facilitator)
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BMP3
|
bone morphogenetic protein 3
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C4B
|
complement component 4B (Chido blood group)
|
|
CACNA1H
|
calcium channel, voltage-dependent, T type, alpha 1H subunit
|
|
CAPN10
|
calpain 10
|
|
CCL3L1
|
chemokine (C-C motif) ligand 3-like 1
|
|
CCL5
|
chemokine (C-C motif) ligand 5
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CD1D
|
CD1d molecule
|
|
CD44
|
CD44 molecule (Indian blood group)
|
|
CEACAM1
|
carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
CSMD1
|
CUB and Sushi multiple domains 1
|
|
CX3CR1
|
chemokine (C-X3-C motif) receptor 1
|
|
CXCL1
|
chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYP1A1
|
cytochrome P450, family 1, subfamily A, polypeptide 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP21A1P
|
cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP2C19
|
cytochrome P450, family 2, subfamily C, polypeptide 19
|
|
CYP2C8
|
cytochrome P450, family 2, subfamily C, polypeptide 8
|
|
CYP2C9
|
cytochrome P450, family 2, subfamily C, polypeptide 9
|
|
CYP2D6
|
cytochrome P450, family 2, subfamily D, polypeptide 6
|
|
CYP3A4
|
cytochrome P450, family 3, subfamily A, polypeptide 4
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DPP6
|
dipeptidyl-peptidase 6
|
|
DPP7
|
dipeptidyl-peptidase 7
|
|
EGF
|
epidermal growth factor
|
|
EPHA1
|
EPH receptor A1
|
|
ERAP1
|
endoplasmic reticulum aminopeptidase 1
|
|
ERAP2
|
endoplasmic reticulum aminopeptidase 2
|
|
ERF
|
Ets2 repressor factor
|
|
ERN1
|
endoplasmic reticulum to nucleus signaling 1
|
|
ESR1
|
estrogen receptor 1
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
ETV6
|
ets variant 6
|
|
EWSR1
|
EWS RNA-binding protein 1
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FGFR4
|
fibroblast growth factor receptor 4
|
|
FLG
|
filaggrin
|
|
FLNA
|
filamin A, alpha
|
|
FMNL1
|
formin-like 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FTL
|
ferritin, light polypeptide
|
|
FUT2
|
fucosyltransferase 2 (secretor status included)
|
|
FZD7
|
frizzled class receptor 7
|
|
G6PC2
|
glucose-6-phosphatase, catalytic, 2
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GCKR
|
glucokinase (hexokinase 4) regulator
|
|
GH1
|
growth hormone 1
|
|
GHSR
|
growth hormone secretagogue receptor
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GNB3
|
guanine nucleotide binding protein (G protein), beta polypeptide 3
|
|
GPR55
|
G protein-coupled receptor 55
|
|
GRN
|
granulin
|
|
GSK3B
|
glycogen synthase kinase 3 beta
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
HAVCR1
|
hepatitis A virus cellular receptor 1
|
|
HBB
|
hemoglobin, beta
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-C
|
major histocompatibility complex, class I, C
|
|
HLA-DPA1
|
major histocompatibility complex, class II, DP alpha 1
|
|
HP
|
haptoglobin
|
|
HSPB7
|
heat shock 27kDa protein family, member 7 (cardiovascular)
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IFNL3
|
interferon, lambda 3
|
|
IGH
|
immunoglobulin heavy locus
|
|
IGHD
|
immunoglobulin heavy constant delta
|
|
IGHM
|
immunoglobulin heavy constant mu
|
|
IGK
|
immunoglobulin kappa locus
|
|
IL2
|
interleukin 2
|
|
INS
|
insulin
|
|
ITGB1
|
integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
|
|
JAK2
|
Janus kinase 2
|
|
JUN
|
jun proto-oncogene
|
|
KCNE2
|
potassium channel, voltage gated subfamily E regulatory beta subunit 2
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNK2
|
potassium channel, two pore domain subfamily K, member 2
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KCNQ5
|
potassium channel, voltage gated KQT-like subfamily Q, member 5
|
|
KIR2DL1
|
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
|
|
KIR2DL5A
|
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A
|
|
KIR2DL5B
|
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B
|
|
KIR2DS1
|
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
|
|
KIR2DS3
|
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3
|
|
KIR3DL1
|
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
|
|
KIR3DL3
|
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3
|
|
L1RE1
|
LINE1 retrotransposable element 1
|
|
LEP
|
leptin
|
|
LMNA
|
lamin A/C
|
|
MAK
|
male germ cell-associated kinase
|
|
MAPT
|
microtubule-associated protein tau
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MC4R
|
melanocortin 4 receptor
|
|
MFAP2
|
microfibrillar-associated protein 2
|
|
MICA
|
MHC class I polypeptide-related sequence A
|
|
MLANA
|
melan-A
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MOK
|
MOK protein kinase
|
|
MSH4
|
mutS homolog 4
|
|
MSH5
|
mutS homolog 5
|
|
MTNR1B
|
melatonin receptor 1B
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MX1
|
MX dynamin-like GTPase 1
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NAA60
|
N(alpha)-acetyltransferase 60, NatF catalytic subunit
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCR1
|
natural cytotoxicity triggering receptor 1
|
|
NCR3
|
natural cytotoxicity triggering receptor 3
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NFKB1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOTCH3
|
notch 3
|
|
NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
|
|
NR2E1
|
nuclear receptor subfamily 2, group E, member 1
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NUDT5
|
nudix (nucleoside diphosphate linked moiety X)-type motif 5
|
|
OCLN
|
occludin
|
|
OPN4
|
opsin 4
|
|
OPRM1
|
opioid receptor, mu 1
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PAX3
|
paired box 3
|
|
PCBP2
|
poly(rC) binding protein 2
|
|
PCDH11X
|
protocadherin 11 X-linked
|
|
PCMTD1
|
protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PGR
|
progesterone receptor
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
PLCE1
|
phospholipase C, epsilon 1
|
|
PLEKHA7
|
pleckstrin homology domain containing, family A member 7
|
|
POU3F2
|
POU class 3 homeobox 2
|
|
PPP1CA
|
protein phosphatase 1, catalytic subunit, alpha isozyme
|
|
PPP1CB
|
protein phosphatase 1, catalytic subunit, beta isozyme
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRKDC
|
protein kinase, DNA-activated, catalytic polypeptide
|
|
PRNP
|
prion protein
|
|
PSMB11
|
proteasome (prosome, macropain) subunit, beta type, 11
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RHO
|
rhodopsin
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNASE3
|
ribonuclease, RNase A family, 3
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RUNX1
|
runt-related transcription factor 1
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SELE
|
selectin E
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SHOX
|
short stature homeobox
|
|
SLC18A2
|
solute carrier family 18 (vesicular monoamine transporter), member 2
|
|
SLC22A6
|
solute carrier family 22 (organic anion transporter), member 6
|
|
SLC24A5
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC29A2
|
solute carrier family 29 (equilibrative nucleoside transporter), member 2
|
|
SLC2A4
|
solute carrier family 2 (facilitated glucose transporter), member 4
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SLU7
|
SLU7 splicing factor homolog (S. cerevisiae)
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNCG
|
synuclein, gamma (breast cancer-specific protein 1)
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SPP1
|
secreted phosphoprotein 1
|
|
TBX5
|
T-box 5
|
|
TF
|
transferrin
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBR3
|
transforming growth factor, beta receptor III
|
|
TLN2
|
talin 2
|
|
TP53
|
tumor protein p53
|
|
TPMT
|
thiopurine S-methyltransferase
|
|
TPO
|
thyroid peroxidase
|
|
TRA
|
T cell receptor alpha locus
|
|
TRB
|
T cell receptor beta locus
|
|
TRD
|
T cell receptor delta locus
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRG
|
T cell receptor gamma locus
|
|
TRIM22
|
tripartite motif containing 22
|
|
TRPV5
|
transient receptor potential cation channel, subfamily V, member 5
|
|
TRPV6
|
transient receptor potential cation channel, subfamily V, member 6
|
|
TTN
|
titin
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
UGT2B17
|
UDP glucuronosyltransferase 2 family, polypeptide B17
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
