| Symbol |
Name |
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ACAT1
|
acetyl-CoA acetyltransferase 1
|
|
ACHE
|
acetylcholinesterase (Yt blood group)
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
AGO2
|
argonaute RISC catalytic component 2
|
|
AICDA
|
activation-induced cytidine deaminase
|
|
ALB
|
albumin
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
ALKBH1
|
alkB, alkylation repair homolog 1 (E. coli)
|
|
ALOX5
|
arachidonate 5-lipoxygenase
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
APC
|
adenomatous polyposis coli
|
|
APEX1
|
APEX nuclease (multifunctional DNA repair enzyme) 1
|
|
APOA1
|
apolipoprotein A-I
|
|
APOBEC3A
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A
|
|
APTX
|
aprataxin
|
|
AQP4
|
aquaporin 4
|
|
ARL3
|
ADP-ribosylation factor-like 3
|
|
ARX
|
aristaless related homeobox
|
|
ATMIN
|
ATM interactor
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BAX
|
BCL2-associated X protein
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BPIFA4P
|
BPI fold containing family A, member 4, pseudogene
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CBS
|
cystathionine-beta-synthase
|
|
CCM2
|
cerebral cavernous malformation 2
|
|
CCND1
|
cyclin D1
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CD1D
|
CD1d molecule
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CEP162
|
centrosomal protein 162kDa
|
|
CHIA
|
chitinase, acidic
|
|
CKAP4
|
cytoskeleton-associated protein 4
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COMMD1
|
copper metabolism (Murr1) domain containing 1
|
|
COX3
|
|
|
CRABP2
|
cellular retinoic acid binding protein 2
|
|
CREBBP
|
CREB binding protein
|
|
CRYBA1
|
crystallin, beta A1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP2D6
|
cytochrome P450, family 2, subfamily D, polypeptide 6
|
|
DCK
|
deoxycytidine kinase
|
|
DHX9
|
DEAH (Asp-Glu-Ala-His) box helicase 9
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DMC1
|
DNA meiotic recombinase 1
|
|
DNM1L
|
dynamin 1-like
|
|
DUSP18
|
dual specificity phosphatase 18
|
|
EGFR
|
epidermal growth factor receptor
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELANE
|
elastase, neutrophil expressed
|
|
ENAM
|
enamelin
|
|
EP300
|
E1A binding protein p300
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ESR1
|
estrogen receptor 1
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
F11
|
coagulation factor XI
|
|
F12
|
coagulation factor XII (Hageman factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
FAM168A
|
family with sequence similarity 168, member A
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FARSB
|
phenylalanyl-tRNA synthetase, beta subunit
|
|
FEN1
|
flap structure-specific endonuclease 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FKBP10
|
FK506 binding protein 10, 65 kDa
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXO4
|
forkhead box O4
|
|
FPGT
|
fucose-1-phosphate guanylyltransferase
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GADD45A
|
growth arrest and DNA-damage-inducible, alpha
|
|
GAST
|
gastrin
|
|
GH1
|
growth hormone 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLI1
|
GLI family zinc finger 1
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GNAS
|
GNAS complex locus
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GP9
|
glycoprotein IX (platelet)
|
|
HAS2
|
hyaluronan synthase 2
|
|
HES1
|
hes family bHLH transcription factor 1
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-G
|
major histocompatibility complex, class I, G
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HMGB1
|
high mobility group box 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSPA1A
|
heat shock 70kDa protein 1A
|
|
HTT
|
huntingtin
|
|
HUS1
|
HUS1 checkpoint homolog (S. pombe)
|
|
IL19
|
interleukin 19
|
|
IL1B
|
interleukin 1, beta
|
|
IL6
|
interleukin 6
|
|
IL7
|
interleukin 7
|
|
ITCH
|
itchy E3 ubiquitin protein ligase
|
|
ITGA3
|
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
|
|
ITGB1
|
integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
|
|
JAK2
|
Janus kinase 2
|
|
JUN
|
jun proto-oncogene
|
|
KCNA2
|
potassium channel, voltage gated shaker related subfamily A, member 2
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KIR2DL1
|
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
|
|
KIR2DS1
|
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAG3
|
lymphocyte-activation gene 3
|
|
LAMA2
|
laminin, alpha 2
|
|
LDLR
|
low density lipoprotein receptor
|
|
LGALS14
|
lectin, galactoside-binding, soluble, 14
|
|
LIG1
|
ligase I, DNA, ATP-dependent
|
|
LIG3
|
ligase III, DNA, ATP-dependent
|
|
LMBR1
|
limb development membrane protein 1
|
|
LPL
|
lipoprotein lipase
|
|
MAFA
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MAGT1
|
magnesium transporter 1
|
|
MAOB
|
monoamine oxidase B
|
|
MAPRE1
|
microtubule-associated protein, RP/EB family, member 1
|
|
MAPRE3
|
microtubule-associated protein, RP/EB family, member 3
|
|
MAPT
|
microtubule-associated protein tau
|
|
MBD4
|
methyl-CpG binding domain protein 4
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MCM7
|
minichromosome maintenance complex component 7
|
|
MFRP
|
membrane frizzled-related protein
|
|
MGMT
|
O-6-methylguanine-DNA methyltransferase
|
|
MIP
|
major intrinsic protein of lens fiber
|
|
MIR106B
|
microRNA 106b
|
|
MIR122
|
microRNA 122
|
|
MIR17
|
microRNA 17
|
|
MIR184
|
microRNA 184
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKI67
|
marker of proliferation Ki-67
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MPG
|
N-methylpurine-DNA glycosylase
|
|
MPZ
|
myelin protein zero
|
|
MSH2
|
mutS homolog 2
|
|
MT-ND2
|
MTND2
|
|
MTM1
|
myotubularin 1
|
|
MUTYH
|
mutY homolog
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
ND1
|
|
|
NEDD9
|
neural precursor cell expressed, developmentally down-regulated 9
|
|
NEIL1
|
nei endonuclease VIII-like 1 (E. coli)
|
|
NEIL2
|
nei endonuclease VIII-like 2 (E. coli)
|
|
NEIL3
|
nei endonuclease VIII-like 3 (E. coli)
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NPR3
|
natriuretic peptide receptor 3
|
|
NQO1
|
NAD(P)H dehydrogenase, quinone 1
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NUCLEOLIN
|
nucleolin multifunctional protein
|
|
OGG1
|
8-oxoguanine DNA glycosylase
|
|
OGT
|
O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
P2RY12
|
purinergic receptor P2Y, G-protein coupled, 12
|
|
PANK2
|
pantothenate kinase 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PARP1
|
poly (ADP-ribose) polymerase 1
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDE4DIP
|
phosphodiesterase 4D interacting protein
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PGR
|
progesterone receptor
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PIF1
|
PIF1 5'-to-3' DNA helicase
|
|
PLA2G2A
|
phospholipase A2, group IIA (platelets, synovial fluid)
|
|
PLAU
|
plasminogen activator, urokinase
|
|
POLA1
|
polymerase (DNA directed), alpha 1, catalytic subunit
|
|
POLB
|
polymerase (DNA directed), beta
|
|
POLE
|
polymerase (DNA directed), epsilon, catalytic subunit
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLH
|
polymerase (DNA directed), eta
|
|
POLI
|
polymerase (DNA directed) iota
|
|
POLK
|
polymerase (DNA directed) kappa
|
|
POLL
|
polymerase (DNA directed), lambda
|
|
POLQ
|
polymerase (DNA directed), theta
|
|
POT1
|
protection of telomeres 1
|
|
PPM1D
|
protein phosphatase, Mg2+/Mn2+ dependent, 1D
|
|
PPOX
|
protoporphyrinogen oxidase
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PROS1
|
protein S (alpha)
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PUM1
|
pumilio RNA-binding family member 1
|
|
PUM2
|
pumilio RNA-binding family member 2
|
|
RAB3B
|
RAB3B, member RAS oncogene family
|
|
RAD1
|
RAD1 checkpoint DNA exonuclease
|
|
RAD51
|
RAD51 recombinase
|
|
RAD9A
|
RAD9 homolog A (S. pombe)
|
|
RB1
|
retinoblastoma 1
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
RECQL5
|
RecQ protein-like 5
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
RNF4
|
ring finger protein 4
|
|
RNR2
|
RNA, ribosomal cluster 2
|
|
RNU4-1
|
RNA, U4 small nuclear 1
|
|
ROBO3
|
roundabout, axon guidance receptor, homolog 3 (Drosophila)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
|
RPA1
|
replication protein A1, 70kDa
|
|
RPL26
|
ribosomal protein L26
|
|
RPS3
|
ribosomal protein S3
|
|
RS1
|
retinoschisin 1
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SEC14L3
|
SEC14-like 3 (S. cerevisiae)
|
|
SEPN1
|
selenoprotein N, 1
|
|
SERPINA5
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
|
|
SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC25A32
|
solute carrier family 25 (mitochondrial folate carrier), member 32
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC28A3
|
solute carrier family 28 (concentrative nucleoside transporter), member 3
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC4A11
|
solute carrier family 4, sodium borate transporter, member 11
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC9A3R1
|
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
|
|
SLC9A3R2
|
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SMUG1
|
single-strand-selective monofunctional uracil-DNA glycosylase 1
|
|
SNRNP48
|
small nuclear ribonucleoprotein 48kDa (U11/U12)
|
|
SNRPA
|
small nuclear ribonucleoprotein polypeptide A
|
|
SNRPE
|
small nuclear ribonucleoprotein polypeptide E
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SPATA2
|
spermatogenesis associated 2
|
|
SPHK1
|
sphingosine kinase 1
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SSBP1
|
single-stranded DNA binding protein 1, mitochondrial
|
|
STIL
|
SCL/TAL1 interrupting locus
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
TARBP2
|
TAR (HIV-1) RNA binding protein 2
|
|
TDG
|
thymine-DNA glycosylase
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TFAM
|
transcription factor A, mitochondrial
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGS1
|
trimethylguanosine synthase 1
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
TIMP3
|
TIMP metallopeptidase inhibitor 3
|
|
TLL1
|
tolloid-like 1
|
|
TOP1
|
topoisomerase (DNA) I
|
|
TP53
|
tumor protein p53
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRG
|
T cell receptor gamma locus
|
|
TRIM37
|
tripartite motif containing 37
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TXN
|
thioredoxin
|
|
TYMS
|
thymidylate synthetase
|
|
UCK2
|
uridine-cytidine kinase 2
|
|
UGT1A9
|
UDP glucuronosyltransferase 1 family, polypeptide A9
|
|
UNG
|
uracil-DNA glycosylase
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
UTRN
|
utrophin
|
|
VAV1
|
vav 1 guanine nucleotide exchange factor
|
|
VCP
|
valosin containing protein
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VWF
|
von Willebrand factor
|
|
WARS
|
tryptophanyl-tRNA synthetase
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
WT1
|
Wilms tumor 1
|
|
WWP1
|
WW domain containing E3 ubiquitin protein ligase 1
|
|
WWP2
|
WW domain containing E3 ubiquitin protein ligase 2
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
XRCC1
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
|
XRCC3
|
X-ray repair complementing defective repair in Chinese hamster cells 3
|
|
YBX1
|
Y box binding protein 1
|
|
ZBTB7B
|
zinc finger and BTB domain containing 7B
|
|
ZFYVE9
|
zinc finger, FYVE domain containing 9
|
