| Symbol |
Name |
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ACVR1
|
activin A receptor, type I
|
|
ACVR2A
|
activin A receptor, type IIA
|
|
ADAM15
|
ADAM metallopeptidase domain 15
|
|
ADM
|
adrenomedullin
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
APC
|
adenomatous polyposis coli
|
|
APEX1
|
APEX nuclease (multifunctional DNA repair enzyme) 1
|
|
APOE
|
apolipoprotein E
|
|
AR
|
androgen receptor
|
|
ARF6
|
ADP-ribosylation factor 6
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARID2
|
AT rich interactive domain 2 (ARID, RFX-like)
|
|
ASTE1
|
asteroid homolog 1 (Drosophila)
|
|
ATM
|
ATM serine/threonine kinase
|
|
AURKA
|
aurora kinase A
|
|
AVPR1A
|
arginine vasopressin receptor 1A
|
|
AXIN2
|
axin 2
|
|
B2M
|
beta-2-microglobulin
|
|
BAK1
|
BCL2-antagonist/killer 1
|
|
BAX
|
BCL2-associated X protein
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRD2
|
bromodomain containing 2
|
|
CADM1
|
cell adhesion molecule 1
|
|
CASP1
|
caspase 1, apoptosis-related cysteine peptidase
|
|
CASP5
|
caspase 5, apoptosis-related cysteine peptidase
|
|
CCKBR
|
cholecystokinin B receptor
|
|
CCL7
|
chemokine (C-C motif) ligand 7
|
|
CCND1
|
cyclin D1
|
|
CD28
|
CD28 molecule
|
|
CD40LG
|
CD40 ligand
|
|
CD5
|
CD5 molecule
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDK2AP1
|
cyclin-dependent kinase 2 associated protein 1
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDX2
|
caudal type homeobox 2
|
|
CHD1L
|
chromodomain helicase DNA binding protein 1-like
|
|
CHFR
|
checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase
|
|
CHGB
|
chromogranin B
|
|
CIDEA
|
cell death-inducing DFFA-like effector a
|
|
CLOCK
|
clock circadian regulator
|
|
CNA1
|
cornea plana 1 (autosomal dominant)
|
|
CNDP1
|
carnosine dipeptidase 1 (metallopeptidase M20 family)
|
|
CNDP2
|
CNDP dipeptidase 2 (metallopeptidase M20 family)
|
|
CNR1
|
cannabinoid receptor 1 (brain)
|
|
COL6A5
|
collagen, type VI, alpha 5
|
|
COPD
|
Pulmonary disease, chronic obstructive, severe early-onset
|
|
CTCF
|
CCCTC-binding factor (zinc finger protein)
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
DFNA5
|
deafness, autosomal dominant 5
|
|
DMD
|
dystrophin
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DRD5
|
dopamine receptor D5
|
|
DUSP4
|
dual specificity phosphatase 4
|
|
EDA
|
ectodysplasin A
|
|
EGFR
|
epidermal growth factor receptor
|
|
EP300
|
E1A binding protein p300
|
|
EPHB2
|
EPH receptor B2
|
|
ESR1
|
estrogen receptor 1
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
EXO1
|
exonuclease 1
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FGF9
|
fibroblast growth factor 9
|
|
FHIT
|
fragile histidine triad
|
|
FLCN
|
folliculin
|
|
FLI1
|
Fli-1 proto-oncogene, ETS transcription factor
|
|
FOXP3
|
forkhead box P3
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GALNT12
|
polypeptide N-acetylgalactosaminyltransferase 12
|
|
GBA
|
glucosidase, beta, acid
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GRIN2D
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2D
|
|
HAAO
|
3-hydroxyanthranilate 3,4-dioxygenase
|
|
HBD
|
hemoglobin, delta
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HERC3
|
HECT and RLD domain containing E3 ubiquitin protein ligase 3
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-C
|
major histocompatibility complex, class I, C
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HMMR
|
hyaluronan-mediated motility receptor (RHAMM)
|
|
HMOX1
|
heme oxygenase 1
|
|
HNF1A
|
HNF1 homeobox A
|
|
HP
|
haptoglobin
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
IFN1@
|
interferon, type 1, cluster
|
|
IFNAR1
|
interferon (alpha, beta and omega) receptor 1
|
|
IFNG
|
interferon, gamma
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF2R
|
insulin-like growth factor 2 receptor
|
|
IGFBP3
|
insulin-like growth factor binding protein 3
|
|
IL10
|
interleukin 10
|
|
ISL1
|
ISL LIM homeobox 1
|
|
KMT2C
|
lysine (K)-specific methyltransferase 2C
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KRT20
|
keratin 20, type I
|
|
KRT7
|
keratin 7, type II
|
|
LATS1
|
large tumor suppressor kinase 1
|
|
LEP
|
leptin
|
|
LOC390998
|
ribosomal protein L10 pseudogene
|
|
LRTOMT
|
leucine rich transmembrane and O-methyltransferase domain containing
|
|
LTA
|
lymphotoxin alpha
|
|
MACC1
|
metastasis associated in colon cancer 1
|
|
MAPRE3
|
microtubule-associated protein, RP/EB family, member 3
|
|
MARCKSP1
|
myristoylated alanine-rich protein kinase C substrate pseudogene 1
|
|
MBD4
|
methyl-CpG binding domain protein 4
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MGMT
|
O-6-methylguanine-DNA methyltransferase
|
|
MICA
|
MHC class I polypeptide-related sequence A
|
|
MICB
|
MHC class I polypeptide-related sequence B
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MIR155
|
microRNA 155
|
|
MLH1
|
mutL homolog 1
|
|
MMP11
|
matrix metallopeptidase 11
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MSH2
|
mutS homolog 2
|
|
MSH3
|
mutS homolog 3
|
|
MSH6
|
mutS homolog 6
|
|
MSX1
|
msh homeobox 1
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MUTYH
|
mutY homolog
|
|
NAT2
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOS1
|
nitric oxide synthase 1 (neuronal)
|
|
NOS2
|
nitric oxide synthase 2, inducible
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NPPB
|
natriuretic peptide B
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PARP1
|
poly (ADP-ribose) polymerase 1
|
|
PARP14
|
poly (ADP-ribose) polymerase family, member 14
|
|
PCNXL2
|
pecanex-like 2 (Drosophila)
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDS5B
|
PDS5 cohesin associated factor B
|
|
PECAM1
|
platelet/endothelial cell adhesion molecule 1
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLCD1
|
phospholipase C, delta 1
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POLB
|
polymerase (DNA directed), beta
|
|
POLE
|
polymerase (DNA directed), epsilon, catalytic subunit
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMC
|
proopiomelanocortin
|
|
PRDM2
|
PR domain containing 2, with ZNF domain
|
|
PRNP
|
prion protein
|
|
PROM1
|
prominin 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTGER2
|
prostaglandin E receptor 2 (subtype EP2), 53kDa
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTPN21
|
protein tyrosine phosphatase, non-receptor type 21
|
|
PTPN5
|
protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)
|
|
PTPRS
|
protein tyrosine phosphatase, receptor type, S
|
|
RARB
|
retinoic acid receptor, beta
|
|
RB1
|
retinoblastoma 1
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RUNX3
|
runt-related transcription factor 3
|
|
RXFP3
|
relaxin/insulin-like family peptide receptor 3
|
|
SEL1L
|
sel-1 suppressor of lin-12-like (C. elegans)
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPINB5
|
serpin peptidase inhibitor, clade B (ovalbumin), member 5
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SETD1B
|
SET domain containing 1B
|
|
SFRP2
|
secreted frizzled-related protein 2
|
|
SFRP5
|
secreted frizzled-related protein 5
|
|
SFTPB
|
surfactant protein B
|
|
SGOL1
|
shugoshin-like 1 (S. pombe)
|
|
SHOX
|
short stature homeobox
|
|
SIRT1
|
sirtuin 1
|
|
SLC11A1
|
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
|
|
SLC46A2
|
solute carrier family 46, member 2
|
|
SLI1
|
Specific language impairment QTL, 1
|
|
SMAD2
|
SMAD family member 2
|
|
SMAD4
|
SMAD family member 4
|
|
SMAP1
|
small ArfGAP 1
|
|
SMARCC2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
|
|
SNAP25
|
synaptosomal-associated protein, 25kDa
|
|
SRPX2
|
sushi-repeat containing protein, X-linked 2
|
|
TAF1B
|
TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa
|
|
TARBP2
|
TAR (HIV-1) RNA binding protein 2
|
|
TCF7L1
|
transcription factor 7-like 1 (T-cell specific, HMG-box)
|
|
TCF7L2
|
transcription factor 7-like 2 (T-cell specific, HMG-box)
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TH
|
tyrosine hydroxylase
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
TLR2
|
toll-like receptor 2
|
|
TLR9
|
toll-like receptor 9
|
|
TMEM158
|
transmembrane protein 158 (gene/pseudogene)
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TNFRSF8
|
tumor necrosis factor receptor superfamily, member 8
|
|
TP53
|
tumor protein p53
|
|
TRIP12
|
thyroid hormone receptor interactor 12
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TSN
|
translin
|
|
TYMS
|
thymidylate synthetase
|
|
UBE2Q1
|
ubiquitin-conjugating enzyme E2Q family member 1
|
|
UBE4B
|
ubiquitination factor E4B
|
|
UBR5
|
ubiquitin protein ligase E3 component n-recognin 5
|
|
UCP2
|
uncoupling protein 2 (mitochondrial, proton carrier)
|
|
UCP3
|
uncoupling protein 3 (mitochondrial, proton carrier)
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
UVRAG
|
UV radiation resistance associated
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS35
|
vacuolar protein sorting 35 homolog (S. cerevisiae)
|
|
VWF
|
von Willebrand factor
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
XRCC1
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
|
YY1
|
YY1 transcription factor
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
