| Symbol |
Name |
|
ACAN
|
aggrecan
|
|
ACTN2
|
actinin, alpha 2
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADAMTS20
|
ADAM metallopeptidase with thrombospondin type 1 motif, 20
|
|
ADAMTSL1
|
ADAMTS-like 1
|
|
ADAP1
|
ArfGAP with dual PH domains 1
|
|
AICDA
|
activation-induced cytidine deaminase
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANXA11
|
annexin A11
|
|
ANXA7
|
annexin A7
|
|
APC
|
adenomatous polyposis coli
|
|
APC2
|
adenomatosis polyposis coli 2
|
|
APOA1
|
apolipoprotein A-I
|
|
APOA2
|
apolipoprotein A-II
|
|
APOA5
|
apolipoprotein A-V
|
|
APOB
|
apolipoprotein B
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AR
|
androgen receptor
|
|
ARFGEF1
|
ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)
|
|
ARHGAP20
|
Rho GTPase activating protein 20
|
|
ARX
|
aristaless related homeobox
|
|
ASF1A
|
anti-silencing function 1A histone chaperone
|
|
ATG16L1
|
autophagy related 16-like 1 (S. cerevisiae)
|
|
ATN1
|
atrophin 1
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
ATXN8
|
ataxin 8
|
|
ATXN8OS
|
ATXN8 opposite strand (non-protein coding)
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BAX
|
BCL2-associated X protein
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BEAN1
|
brain expressed, associated with NEDD4, 1
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
C3
|
complement component 3
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CA10
|
carbonic anhydrase X
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1H
|
calcium channel, voltage-dependent, T type, alpha 1H subunit
|
|
CACNA1I
|
calcium channel, voltage-dependent, T type, alpha 1I subunit
|
|
CAMK4
|
calcium/calmodulin-dependent protein kinase IV
|
|
CASC5
|
cancer susceptibility candidate 5
|
|
CASP1
|
caspase 1, apoptosis-related cysteine peptidase
|
|
CATSPER3
|
cation channel, sperm associated 3
|
|
CBY1
|
chibby homolog 1 (Drosophila)
|
|
CCKBR
|
cholecystokinin B receptor
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CD209
|
CD209 molecule
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN2D
|
cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
|
|
CELF1
|
CUGBP, Elav-like family member 1
|
|
CENPA
|
centromere protein A
|
|
CFH
|
complement factor H
|
|
CFHR1
|
complement factor H-related 1
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CLEC4M
|
C-type lectin domain family 4, member M
|
|
CLOCK
|
clock circadian regulator
|
|
CLSPN
|
claspin
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
CNR1
|
cannabinoid receptor 1 (brain)
|
|
CNTN1
|
contactin 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
CORIN
|
corin, serine peptidase
|
|
CR1
|
complement component (3b/4b) receptor 1 (Knops blood group)
|
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
|
CSTB
|
cystatin B (stefin B)
|
|
CTBP1
|
C-terminal binding protein 1
|
|
CTBP2
|
C-terminal binding protein 2
|
|
CTCF
|
CCCTC-binding factor (zinc finger protein)
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
DAB1
|
Dab, reelin signal transducer, homolog 1 (Drosophila)
|
|
DBH
|
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DLL1
|
delta-like 1 (Drosophila)
|
|
DLL4
|
delta-like 4 (Drosophila)
|
|
DMD
|
dystrophin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNASE1
|
deoxyribonuclease I
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DPY19L2
|
dpy-19-like 2 (C. elegans)
|
|
DRD4
|
dopamine receptor D4
|
|
DST
|
dystonin
|
|
DUSP12
|
dual specificity phosphatase 12
|
|
E2F4
|
E2F transcription factor 4, p107/p130-binding
|
|
ECE1
|
endothelin converting enzyme 1
|
|
ECT2
|
epithelial cell transforming 2
|
|
EGFR
|
epidermal growth factor receptor
|
|
EPB41
|
erythrocyte membrane protein band 4.1
|
|
ERBB2IP
|
erbb2 interacting protein
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ESR1
|
estrogen receptor 1
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
ESRRA
|
estrogen-related receptor alpha
|
|
EXO1
|
exonuclease 1
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FANK1
|
fibronectin type III and ankyrin repeat domains 1
|
|
FCGRT
|
Fc fragment of IgG, receptor, transporter, alpha
|
|
FEN1
|
flap structure-specific endonuclease 1
|
|
FGF2
|
fibroblast growth factor 2 (basic)
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FLT3
|
fms-related tyrosine kinase 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FN1
|
fibronectin 1
|
|
FOXC2
|
forkhead box C2
|
|
FRA1H
|
fragile site, 5-azacytidine type, common, fra(1)(q42)
|
|
FRAXA
|
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
FXN
|
frataxin
|
|
GALNT1
|
polypeptide N-acetylgalactosaminyltransferase 1
|
|
GNAS
|
GNAS complex locus
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GPX1
|
glutathione peroxidase 1
|
|
GRN
|
granulin
|
|
HDAC1
|
histone deacetylase 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMCN1
|
hemicentin 1
|
|
HMG20B
|
high mobility group 20B
|
|
HMOX1
|
heme oxygenase 1
|
|
HNRNPA1
|
heterogeneous nuclear ribonucleoprotein A1
|
|
HNRNPK
|
heterogeneous nuclear ribonucleoprotein K
|
|
HNRNPL
|
heterogeneous nuclear ribonucleoprotein L
|
|
HOXA1
|
homeobox A1
|
|
HP
|
haptoglobin
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
HSF1
|
heat shock transcription factor 1
|
|
HSP90AB1
|
heat shock protein 90kDa alpha (cytosolic), class B member 1
|
|
HSPA1A
|
heat shock 70kDa protein 1A
|
|
HTT
|
huntingtin
|
|
IDO1
|
indoleamine 2,3-dioxygenase 1
|
|
IFIT2
|
interferon-induced protein with tetratricopeptide repeats 2
|
|
IFNG
|
interferon, gamma
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL10
|
interleukin 10
|
|
IL13RA1
|
interleukin 13 receptor, alpha 1
|
|
IL1R1
|
interleukin 1 receptor, type I
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IL4
|
interleukin 4
|
|
IL6
|
interleukin 6
|
|
INS
|
insulin
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGB4
|
integrin, beta 4
|
|
IWS1
|
IWS1 homolog (S. cerevisiae)
|
|
JPH3
|
junctophilin 3
|
|
KCNN3
|
potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3
|
|
KHDRBS1
|
KH domain containing, RNA binding, signal transduction associated 1
|
|
KIF21A
|
kinesin family member 21A
|
|
KLK3
|
kallikrein-related peptidase 3
|
|
KPNA1
|
karyopherin alpha 1 (importin alpha 5)
|
|
KRT4
|
keratin 4, type II
|
|
L3MBTL2
|
l(3)mbt-like 2 (Drosophila)
|
|
LDLR
|
low density lipoprotein receptor
|
|
LEF1
|
lymphoid enhancer-binding factor 1
|
|
LINGO1
|
leucine rich repeat and Ig domain containing 1
|
|
LMNA
|
lamin A/C
|
|
LRP2BP
|
LRP2 binding protein
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRPAP1
|
low density lipoprotein receptor-related protein associated protein 1
|
|
LRRFIP1
|
leucine rich repeat (in FLII) interacting protein 1
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MACF1
|
microtubule-actin crosslinking factor 1
|
|
MAML1
|
mastermind-like 1 (Drosophila)
|
|
MAOA
|
monoamine oxidase A
|
|
MAOB
|
monoamine oxidase B
|
|
MAPT
|
microtubule-associated protein tau
|
|
MARK2
|
MAP/microtubule affinity-regulating kinase 2
|
|
MBNL1
|
muscleblind-like splicing regulator 1
|
|
MCL1
|
myeloid cell leukemia 1
|
|
MDC1
|
mediator of DNA-damage checkpoint 1
|
|
MEF2A
|
myocyte enhancer factor 2A
|
|
MICA
|
MHC class I polypeptide-related sequence A
|
|
MID1
|
midline 1
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MIR512-1
|
microRNA 512-1
|
|
MIR512-2
|
microRNA 512-2
|
|
MKI67
|
marker of proliferation Ki-67
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MPO
|
myeloperoxidase
|
|
MPZ
|
myelin protein zero
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MSH2
|
mutS homolog 2
|
|
MSH3
|
mutS homolog 3
|
|
MSH6
|
mutS homolog 6
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MUC1
|
mucin 1, cell surface associated
|
|
MUC6
|
mucin 6, oligomeric mucus/gel-forming
|
|
MUC7
|
mucin 7, secreted
|
|
NAIP
|
NLR family, apoptosis inhibitory protein
|
|
NBN
|
nibrin
|
|
NCOR1
|
nuclear receptor corepressor 1
|
|
NDC1
|
NDC1 transmembrane nucleoporin
|
|
NEK2
|
NIMA-related kinase 2
|
|
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
|
|
NOD1
|
nucleotide-binding oligomerization domain containing 1
|
|
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)
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSMAF
|
neutral sphingomyelinase (N-SMase) activation associated factor
|
|
OBSCN
|
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
|
|
OGG1
|
8-oxoguanine DNA glycosylase
|
|
OSTF1
|
osteoclast stimulating factor 1
|
|
PABPC1
|
poly(A) binding protein, cytoplasmic 1
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PAK1
|
p21 protein (Cdc42/Rac)-activated kinase 1
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PAPPA
|
pregnancy-associated plasma protein A, pappalysin 1
|
|
PAX5
|
paired box 5
|
|
PAX6
|
paired box 6
|
|
PBX1
|
pre-B-cell leukemia homeobox 1
|
|
PCBD2
|
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2
|
|
PCBP2
|
poly(rC) binding protein 2
|
|
PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
|
PDCD6IP
|
programmed cell death 6 interacting protein
|
|
PER3
|
period circadian clock 3
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PLA2G4C
|
phospholipase A2, group IVC (cytosolic, calcium-independent)
|
|
PLEKHG4
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 4
|
|
PLK1
|
polo-like kinase 1
|
|
PLP1
|
proteolipid protein 1
|
|
POC5
|
POC5 centriolar protein
|
|
POFUT1
|
protein O-fucosyltransferase 1
|
|
POLB
|
polymerase (DNA directed), beta
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POT1
|
protection of telomeres 1
|
|
POU2F1
|
POU class 2 homeobox 1
|
|
POU2F2
|
POU class 2 homeobox 2
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R13L
|
protein phosphatase 1, regulatory subunit 13 like
|
|
PPP2R1A
|
protein phosphatase 2, regulatory subunit A, alpha
|
|
PPP2R4
|
protein phosphatase 2A activator, regulatory subunit 4
|
|
PRKCA
|
protein kinase C, alpha
|
|
PRKCD
|
protein kinase C, delta
|
|
PRKDC
|
protein kinase, DNA-activated, catalytic polypeptide
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PRNP
|
prion protein
|
|
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
|
|
PTPRZ1
|
protein tyrosine phosphatase, receptor-type, Z polypeptide 1
|
|
RAD50
|
RAD50 homolog (S. cerevisiae)
|
|
RAD51
|
RAD51 recombinase
|
|
RASGRF1
|
Ras protein-specific guanine nucleotide-releasing factor 1
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RELN
|
reelin
|
|
RSPO3
|
R-spondin 3
|
|
RXFP1
|
relaxin/insulin-like family peptide receptor 1
|
|
RXFP2
|
relaxin/insulin-like family peptide receptor 2
|
|
SCML2
|
sex comb on midleg-like 2 (Drosophila)
|
|
SCT
|
secretin
|
|
SFMBT1
|
Scm-like with four mbt domains 1
|
|
SFTPA1
|
surfactant protein A1
|
|
SHBG
|
sex hormone-binding globulin
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC6A18
|
solute carrier family 6 (neutral amino acid transporter), member 18
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMYD3
|
SET and MYND domain containing 3
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SND1
|
staphylococcal nuclease and tudor domain containing 1
|
|
SORL1
|
sortilin-related receptor, L(DLR class) A repeats containing
|
|
SORT1
|
sortilin 1
|
|
SP1
|
Sp1 transcription factor
|
|
SPAG16
|
sperm associated antigen 16
|
|
SPIN1
|
spindlin 1
|
|
SPTA1
|
spectrin, alpha, erythrocytic 1
|
|
SPTB
|
spectrin, beta, erythrocytic
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
STAB2
|
stabilin 2
|
|
STAT6
|
signal transducer and activator of transcription 6, interleukin-4 induced
|
|
TAF10
|
TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa
|
|
TBP
|
TATA box binding protein
|
|
TERC
|
telomerase RNA component
|
|
TERF1
|
telomeric repeat binding factor (NIMA-interacting) 1
|
|
TERF2
|
telomeric repeat binding factor 2
|
|
TERT
|
telomerase reverse transcriptase
|
|
TEX14
|
testis expressed 14
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THBS1
|
thrombospondin 1
|
|
TIMELESS
|
timeless circadian clock
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TLR2
|
toll-like receptor 2
|
|
TLR3
|
toll-like receptor 3
|
|
TLR8
|
toll-like receptor 8
|
|
TMPRSS2
|
transmembrane protease, serine 2
|
|
TNC
|
tenascin C
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF1B
|
tumor necrosis factor receptor superfamily, member 1B
|
|
TNPO1
|
transportin 1
|
|
TOP1
|
topoisomerase (DNA) I
|
|
TOPBP1
|
topoisomerase (DNA) II binding protein 1
|
|
TP53
|
tumor protein p53
|
|
TP53I3
|
tumor protein p53 inducible protein 3
|
|
TPMT
|
thiopurine S-methyltransferase
|
|
TRIL
|
TLR4 interactor with leucine-rich repeats
|
|
TRPA1
|
transient receptor potential cation channel, subfamily A, member 1
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTN
|
titin
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TYMS
|
thymidylate synthetase
|
|
UBN1
|
ubinuclein 1
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
USO1
|
USO1 vesicle transport factor
|
|
UTRN
|
utrophin
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VTN
|
vitronectin
|
|
VWF
|
von Willebrand factor
|
|
WIF1
|
WNT inhibitory factor 1
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
XPO1
|
exportin 1
|
|
XRCC5
|
X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
|
|
XRCC6
|
X-ray repair complementing defective repair in Chinese hamster cells 6
|
|
ZBTB7A
|
zinc finger and BTB domain containing 7A
|
