| Symbol |
Name |
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ACSM2A
|
acyl-CoA synthetase medium-chain family member 2A
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACTG1
|
actin gamma 1
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADCYAP1R1
|
adenylate cyclase activating polypeptide 1 (pituitary) receptor type I
|
|
ADD1
|
adducin 1 (alpha)
|
|
ADRB1
|
adrenoceptor beta 1
|
|
AGER
|
advanced glycosylation end product-specific receptor
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AIRE
|
autoimmune regulator
|
|
AKR1D1
|
aldo-keto reductase family 1, member D1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDH1A1
|
aldehyde dehydrogenase 1 family, member A1
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
ALPK1
|
alpha-kinase 1
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ALPP
|
alkaline phosphatase, placental
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
ANPEP
|
alanyl (membrane) aminopeptidase
|
|
APC
|
adenomatous polyposis coli
|
|
APOE
|
apolipoprotein E
|
|
APOH
|
apolipoprotein H (beta-2-glycoprotein I)
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ARHGDIA
|
Rho GDP dissociation inhibitor (GDI) alpha
|
|
ATP6V0A1
|
ATPase, H+ transporting, lysosomal V0 subunit a1
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
AZGP1
|
alpha-2-glycoprotein 1, zinc-binding
|
|
BAP1
|
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
|
|
BASP1
|
brain abundant, membrane attached signal protein 1
|
|
BAX
|
BCL2-associated X protein
|
|
BCL11A
|
B-cell CLL/lymphoma 11A (zinc finger protein)
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCL6
|
B-cell CLL/lymphoma 6
|
|
BCR
|
breakpoint cluster region
|
|
BEST1
|
bestrophin 1
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BSG
|
basigin (Ok blood group)
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CA2
|
carbonic anhydrase II
|
|
CA9
|
carbonic anhydrase IX
|
|
CALCA
|
calcitonin-related polypeptide alpha
|
|
CAPN3
|
calpain 3, (p94)
|
|
CCNA1
|
cyclin A1
|
|
CCND1
|
cyclin D1
|
|
CCNI
|
cyclin I
|
|
CCR7
|
chemokine (C-C motif) receptor 7
|
|
CD2AP
|
CD2-associated protein
|
|
CDC37
|
cell division cycle 37
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CEBPA
|
CCAAT/enhancer binding protein (C/EBP), alpha
|
|
CENPF
|
centromere protein F, 350/400kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP55
|
centrosomal protein 55kDa
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHGA
|
chromogranin A
|
|
CHMP6
|
charged multivesicular body protein 6
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLEC4M
|
C-type lectin domain family 4, member M
|
|
CMIP
|
c-Maf inducing protein
|
|
COL8A2
|
collagen, type VIII, alpha 2
|
|
CPB2
|
carboxypeptidase B2 (plasma)
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CST3
|
cystatin C
|
|
CTSV
|
cathepsin V
|
|
CUL4B
|
cullin 4B
|
|
CXCL10
|
chemokine (C-X-C motif) ligand 10
|
|
CXCL12
|
chemokine (C-X-C motif) ligand 12
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP1A2
|
cytochrome P450, family 1, subfamily A, polypeptide 2
|
|
CYP2E1
|
cytochrome P450, family 2, subfamily E, polypeptide 1
|
|
CYYR1
|
cysteine/tyrosine-rich 1
|
|
DCLK1
|
doublecortin-like kinase 1
|
|
DCTN1
|
dynactin 1
|
|
DDB1
|
damage-specific DNA binding protein 1, 127kDa
|
|
DES
|
desmin
|
|
DGAT1
|
diacylglycerol O-acyltransferase 1
|
|
DHPS
|
deoxyhypusine synthase
|
|
DKK1
|
dickkopf WNT signaling pathway inhibitor 1
|
|
DLG1
|
discs, large homolog 1 (Drosophila)
|
|
DLG4
|
discs, large homolog 4 (Drosophila)
|
|
DLK1
|
delta-like 1 homolog (Drosophila)
|
|
DMD
|
dystrophin
|
|
DNM2
|
dynamin 2
|
|
DRAM1
|
DNA-damage regulated autophagy modulator 1
|
|
DRD2
|
dopamine receptor D2
|
|
DSP
|
desmoplakin
|
|
DYSF
|
dysferlin
|
|
EDA
|
ectodysplasin A
|
|
EDAR
|
ectodysplasin A receptor
|
|
EGFR
|
epidermal growth factor receptor
|
|
EMP3
|
epithelial membrane protein 3
|
|
ENG
|
endoglin
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ESR1
|
estrogen receptor 1
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
ETV6
|
ets variant 6
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FBN1
|
fibrillin 1
|
|
FGF1
|
fibroblast growth factor 1 (acidic)
|
|
FLG
|
filaggrin
|
|
FLI1
|
Fli-1 proto-oncogene, ETS transcription factor
|
|
FLT3
|
fms-related tyrosine kinase 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXG1
|
forkhead box G1
|
|
FTO
|
fat mass and obesity associated
|
|
FUS
|
FUS RNA binding protein
|
|
GADD45A
|
growth arrest and DNA-damage-inducible, alpha
|
|
GATA2
|
GATA binding protein 2
|
|
GDI2
|
GDP dissociation inhibitor 2
|
|
GFER
|
growth factor, augmenter of liver regeneration
|
|
GGT1
|
gamma-glutamyltransferase 1
|
|
GH1
|
growth hormone 1
|
|
GHRL
|
ghrelin/obestatin prepropeptide
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GNAS
|
GNAS complex locus
|
|
GRB7
|
growth factor receptor-bound protein 7
|
|
GRM8
|
glutamate receptor, metabotropic 8
|
|
GRN
|
granulin
|
|
GSK3B
|
glycogen synthase kinase 3 beta
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HDAC4
|
histone deacetylase 4
|
|
HFE
|
hemochromatosis
|
|
HHIP
|
hedgehog interacting protein
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HOXB13
|
homeobox B13
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSP90AA1
|
heat shock protein 90kDa alpha (cytosolic), class A member 1
|
|
HTRA2
|
HtrA serine peptidase 2
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IAPP
|
islet amyloid polypeptide
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFNAR1
|
interferon (alpha, beta and omega) receptor 1
|
|
IFNG
|
interferon, gamma
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IGF2BP3
|
insulin-like growth factor 2 mRNA binding protein 3
|
|
IGH
|
immunoglobulin heavy locus
|
|
IGKC
|
immunoglobulin kappa constant
|
|
IL12RB1
|
interleukin 12 receptor, beta 1
|
|
IL1B
|
interleukin 1, beta
|
|
IL6
|
interleukin 6
|
|
IQGAP1
|
IQ motif containing GTPase activating protein 1
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
JAG1
|
jagged 1
|
|
JAK2
|
Janus kinase 2
|
|
JAK3
|
Janus kinase 3
|
|
KCNE2
|
potassium channel, voltage gated subfamily E regulatory beta subunit 2
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KDR
|
kinase insert domain receptor
|
|
KIF11
|
kinesin family member 11
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT19
|
keratin 19, type I
|
|
LAMA2
|
laminin, alpha 2
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LDLR
|
low density lipoprotein receptor
|
|
LEP
|
leptin
|
|
LGALS3
|
lectin, galactoside-binding, soluble, 3
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LMNA
|
lamin A/C
|
|
LRP6
|
low density lipoprotein receptor-related protein 6
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LSAMP
|
limbic system-associated membrane protein
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MC4R
|
melanocortin 4 receptor
|
|
MCM4
|
minichromosome maintenance complex component 4
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
ME1
|
malic enzyme 1, NADP(+)-dependent, cytosolic
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MGEA5
|
meningioma expressed antigen 5 (hyaluronidase)
|
|
MGMT
|
O-6-methylguanine-DNA methyltransferase
|
|
MIR143
|
microRNA 143
|
|
MIR146A
|
microRNA 146a
|
|
MIR200C
|
microRNA 200c
|
|
MIR205
|
microRNA 205
|
|
MIR211
|
microRNA 211
|
|
MKI67
|
marker of proliferation Ki-67
|
|
MLANA
|
melan-A
|
|
MLH1
|
mutL homolog 1
|
|
MLLT4
|
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MUC2
|
mucin 2, oligomeric mucus/gel-forming
|
|
MUC5AC
|
mucin 5AC, oligomeric mucus/gel-forming
|
|
MUC5B
|
mucin 5B, oligomeric mucus/gel-forming
|
|
MUC6
|
mucin 6, oligomeric mucus/gel-forming
|
|
MUTYH
|
mutY homolog
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYH10
|
myosin, heavy chain 10, non-muscle
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYL1
|
myosin, light chain 1, alkali; skeletal, fast
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGS
|
N-acetylglutamate synthase
|
|
NAMPT
|
nicotinamide phosphoribosyltransferase
|
|
NANOG
|
Nanog homeobox
|
|
NANOGP8
|
Nanog homeobox pseudogene 8
|
|
NCAM1
|
neural cell adhesion molecule 1
|
|
NES
|
nestin
|
|
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
|
|
NLRP7
|
NLR family, pyrin domain containing 7
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
|
|
NPY
|
neuropeptide Y
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NUCLEOLIN
|
nucleolin multifunctional protein
|
|
OGT
|
O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
OLR1
|
oxidized low density lipoprotein (lectin-like) receptor 1
|
|
OSBPL3
|
oxysterol binding protein-like 3
|
|
OTOF
|
otoferlin
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAK2
|
p21 protein (Cdc42/Rac)-activated kinase 2
|
|
PARK7
|
parkinson protein 7
|
|
PAX6
|
paired box 6
|
|
PAX8
|
paired box 8
|
|
PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
|
PDCD6IP
|
programmed cell death 6 interacting protein
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDK2
|
pyruvate dehydrogenase kinase, isozyme 2
|
|
PECAM1
|
platelet/endothelial cell adhesion molecule 1
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PLA2R1
|
phospholipase A2 receptor 1, 180kDa
|
|
PLG
|
plasminogen
|
|
PLP1
|
proteolipid protein 1
|
|
PML
|
promyelocytic leukemia
|
|
POMC
|
proopiomelanocortin
|
|
PRNP
|
prion protein
|
|
PROM1
|
prominin 1
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRSS3
|
protease, serine, 3
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPRD
|
protein tyrosine phosphatase, receptor type, D
|
|
RAG2
|
recombination activating gene 2
|
|
RARA
|
retinoic acid receptor, alpha
|
|
RASSF1
|
Ras association (RalGDS/AF-6) domain family member 1
|
|
RB1
|
retinoblastoma 1
|
|
RBX1
|
ring-box 1, E3 ubiquitin protein ligase
|
|
REL
|
v-rel avian reticuloendotheliosis viral oncogene homolog
|
|
RET
|
ret proto-oncogene
|
|
RHOA
|
ras homolog family member A
|
|
ROCK1
|
Rho-associated, coiled-coil containing protein kinase 1
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RUNX1
|
runt-related transcription factor 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
S100A6
|
S100 calcium binding protein A6
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SCT
|
secretin
|
|
SCTR
|
secretin receptor
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEPN1
|
selenoprotein N, 1
|
|
SERPINB5
|
serpin peptidase inhibitor, clade B (ovalbumin), member 5
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SF3B1
|
splicing factor 3b, subunit 1, 155kDa
|
|
SIRT3
|
sirtuin 3
|
|
SLC16A1
|
solute carrier family 16 (monocarboxylate transporter), member 1
|
|
SLC16A4
|
solute carrier family 16, member 4
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC4A7
|
solute carrier family 4, sodium bicarbonate cotransporter, member 7
|
|
SLCO1B1
|
solute carrier organic anion transporter family, member 1B1
|
|
SLCO1B3
|
solute carrier organic anion transporter family, member 1B3
|
|
SMAD4
|
SMAD family member 4
|
|
SMO
|
smoothened, frizzled class receptor
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNCB
|
synuclein, beta
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SRC
|
SRC proto-oncogene, non-receptor tyrosine kinase
|
|
STXBP1
|
syntaxin binding protein 1
|
|
T
|
T, brachyury homolog (mouse)
|
|
TAAR1
|
trace amine associated receptor 1
|
|
TARS
|
threonyl-tRNA synthetase
|
|
TBX19
|
T-box 19
|
|
TBX6
|
T-box 6
|
|
TEK
|
TEK tyrosine kinase, endothelial
|
|
TERT
|
telomerase reverse transcriptase
|
|
TF
|
transferrin
|
|
TFRC
|
transferrin receptor
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TK1
|
thymidine kinase 1, soluble
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF8
|
tumor necrosis factor receptor superfamily, member 8
|
|
TP53
|
tumor protein p53
|
|
TPMT
|
thiopurine S-methyltransferase
|
|
TREM1
|
triggering receptor expressed on myeloid cells 1
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSG101
|
tumor susceptibility 101
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTR
|
transthyretin
|
|
TYMP
|
thymidine phosphorylase
|
|
TYR
|
tyrosinase
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UGCG
|
UDP-glucose ceramide glucosyltransferase
|
|
VCP
|
valosin containing protein
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VIM
|
vimentin
|
|
VIPR2
|
vasoactive intestinal peptide receptor 2
|
|
VSX1
|
visual system homeobox 1
|
|
VTN
|
vitronectin
|
|
WDR36
|
WD repeat domain 36
|
|
WISP3
|
WNT1 inducible signaling pathway protein 3
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
WWTR1
|
WW domain containing transcription regulator 1
|
|
XIST
|
X inactive specific transcript (non-protein coding)
|
|
XPO1
|
exportin 1
|
|
YWHAQ
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta
|
|
ZIC3
|
Zic family member 3
|
