| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABRA
|
actin binding Rho activating protein
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACSL5
|
acyl-CoA synthetase long-chain family member 5
|
|
AICDA
|
activation-induced cytidine deaminase
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AMBP
|
alpha-1-microglobulin/bikunin precursor
|
|
ANKK1
|
ankyrin repeat and kinase domain containing 1
|
|
ANO10
|
anoctamin 10
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APTX
|
aprataxin
|
|
AQP4
|
aquaporin 4
|
|
AR
|
androgen receptor
|
|
ARMS2
|
age-related maculopathy susceptibility 2
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATN1
|
atrophin 1
|
|
ATXN1
|
ataxin 1
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN8OS
|
ATXN8 opposite strand (non-protein coding)
|
|
AZF1
|
azoospermia factor 1
|
|
AZGP1
|
alpha-2-glycoprotein 1, zinc-binding
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCL2L1
|
BCL2-like 1
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
|
C3
|
complement component 3
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CALB1
|
calbindin 1, 28kDa
|
|
CAPN3
|
calpain 3, (p94)
|
|
CAST
|
calpastatin
|
|
CBLB
|
Cbl proto-oncogene B, E3 ubiquitin protein ligase
|
|
CCDC88C
|
coiled-coil domain containing 88C
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CDX2
|
caudal type homeobox 2
|
|
CFH
|
complement factor H
|
|
CFHR1
|
complement factor H-related 1
|
|
CFHR3
|
complement factor H-related 3
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHIA
|
chitinase, acidic
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CLPB
|
ClpB homolog, mitochondrial AAA ATPase chaperonin
|
|
CLU
|
clusterin
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COPA
|
coatomer protein complex, subunit alpha
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CRYAB
|
crystallin, alpha B
|
|
CX3CR1
|
chemokine (C-X3-C motif) receptor 1
|
|
CXCL12
|
chemokine (C-X-C motif) ligand 12
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
DAPK1
|
death-associated protein kinase 1
|
|
DBH
|
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
|
|
DDIT4
|
DNA-damage-inducible transcript 4
|
|
DDX20
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 20
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DPP6
|
dipeptidyl-peptidase 6
|
|
DRD2
|
dopamine receptor D2
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
FAS
|
Fas cell surface death receptor
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FBXO32
|
F-box protein 32
|
|
FBXO7
|
F-box protein 7
|
|
FERMT1
|
fermitin family member 1
|
|
FGFR1OP2
|
FGFR1 oncogene partner 2
|
|
FHL1
|
four and a half LIM domains 1
|
|
FOXO1
|
forkhead box O1
|
|
FOXO3
|
forkhead box O3
|
|
FUS
|
FUS RNA binding protein
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GAST
|
gastrin
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GDF15
|
growth differentiation factor 15
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GEMIN2
|
gem (nuclear organelle) associated protein 2
|
|
GEMIN4
|
gem (nuclear organelle) associated protein 4
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GH1
|
growth hormone 1
|
|
GHRL
|
ghrelin/obestatin prepropeptide
|
|
GLRX5
|
glutaredoxin 5
|
|
GNA12
|
guanine nucleotide binding protein (G protein) alpha 12
|
|
GOLM1
|
golgi membrane protein 1
|
|
GRN
|
granulin
|
|
GSK3B
|
glycogen synthase kinase 3 beta
|
|
GSTM3
|
glutathione S-transferase mu 3 (brain)
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
GTF2H2
|
general transcription factor IIH, polypeptide 2, 44kDa
|
|
GZMB
|
granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
|
|
HAVCR1
|
hepatitis A virus cellular receptor 1
|
|
HDAC1
|
histone deacetylase 1
|
|
HDAC6
|
histone deacetylase 6
|
|
HIGD1A
|
HIG1 hypoxia inducible domain family, member 1A
|
|
HIST4H4
|
histone cluster 4, H4
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HNRNPM
|
heterogeneous nuclear ribonucleoprotein M
|
|
HPGDS
|
hematopoietic prostaglandin D synthase
|
|
HRH2
|
histamine receptor H2
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
HTT
|
huntingtin
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFNG
|
interferon, gamma
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IL17A
|
interleukin 17A
|
|
IL1B
|
interleukin 1, beta
|
|
IL2
|
interleukin 2
|
|
IL6
|
interleukin 6
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KDSR
|
3-ketodihydrosphingosine reductase
|
|
KLF7
|
Kruppel-like factor 7 (ubiquitous)
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LMNA
|
lamin A/C
|
|
LOC647859
|
occludin pseudogene
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LTA
|
lymphotoxin alpha
|
|
LTB
|
lymphotoxin beta (TNF superfamily, member 3)
|
|
MAPT
|
microtubule-associated protein tau
|
|
MBL2
|
mannose-binding lectin (protein C) 2, soluble
|
|
MED17
|
mediator complex subunit 17
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFN2
|
mitofusin 2
|
|
MGEA5
|
meningioma expressed antigen 5 (hyaluronidase)
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MIR146A
|
microRNA 146a
|
|
MIR27A
|
microRNA 27a
|
|
MIR9-1
|
microRNA 9-1
|
|
MME
|
membrane metallo-endopeptidase
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP7
|
matrix metallopeptidase 7
|
|
MPO
|
myeloperoxidase
|
|
MPZ
|
myelin protein zero
|
|
MSTN
|
myostatin
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT3
|
metallothionein 3
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
MYOG
|
myogenin (myogenic factor 4)
|
|
MYOT
|
myotilin
|
|
NAIP
|
NLR family, apoptosis inhibitory protein
|
|
NBAS
|
neuroblastoma amplified sequence
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOD1
|
nucleotide-binding oligomerization domain containing 1
|
|
NOLC1
|
nucleolar and coiled-body phosphoprotein 1
|
|
NOS1
|
nitric oxide synthase 1 (neuronal)
|
|
NR2F1
|
nuclear receptor subfamily 2, group F, member 1
|
|
NTF4
|
neurotrophin 4
|
|
NTN1
|
netrin 1
|
|
OAT
|
ornithine aminotransferase
|
|
OCLN
|
occludin
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPA5
|
optic atrophy 5 (autosomal dominant)
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDYN
|
prodynorphin
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PGA3
|
pepsinogen 3, group I (pepsinogen A)
|
|
PGC
|
progastricsin (pepsinogen C)
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PITX3
|
paired-like homeodomain 3
|
|
PKD1L2
|
polycystic kidney disease 1-like 2 (gene/pseudogene)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLS3
|
plastin 3
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R1B
|
protein phosphatase 1, regulatory (inhibitor) subunit 1B
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PRKCH
|
protein kinase C, eta
|
|
PRL
|
prolactin
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RB1CC1
|
RB1-inducible coiled-coil 1
|
|
RBP1
|
retinol binding protein 1, cellular
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RRAD
|
Ras-related associated with diabetes
|
|
RS1
|
retinoschisin 1
|
|
RUNX3
|
runt-related transcription factor 3
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
S100B
|
S100 calcium binding protein B
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDC1
|
syndecan 1
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SERF1A
|
small EDRK-rich factor 1A (telomeric)
|
|
SETX
|
senataxin
|
|
SHC2
|
SHC (Src homology 2 domain containing) transforming protein 2
|
|
SHH
|
sonic hedgehog
|
|
SIRT2
|
sirtuin 2
|
|
SLC9A1
|
solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SORL1
|
sortilin-related receptor, L(DLR class) A repeats containing
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SQSTM1
|
sequestosome 1
|
|
SREBF1
|
sterol regulatory element binding transcription factor 1
|
|
STAT5A
|
signal transducer and activator of transcription 5A
|
|
STXBP5L
|
syntaxin binding protein 5-like
|
|
SYNCRIP
|
synaptotagmin binding, cytoplasmic RNA interacting protein
|
|
SYT14
|
synaptotagmin XIV
|
|
TARDBP
|
TAR DNA binding protein
|
|
TEAD1
|
TEA domain family member 1 (SV40 transcriptional enhancer factor)
|
|
TFEB
|
transcription factor EB
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGM2
|
transglutaminase 2
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TLR2
|
toll-like receptor 2
|
|
TLR3
|
toll-like receptor 3
|
|
TLR4
|
toll-like receptor 4
|
|
TMEM126A
|
transmembrane protein 126A
|
|
TNF
|
tumor necrosis factor
|
|
TPPP
|
tubulin polymerization promoting protein
|
|
TRA2B
|
transformer 2 beta homolog (Drosophila)
|
|
TRIM63
|
tripartite motif containing 63, E3 ubiquitin protein ligase
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSC1
|
tuberous sclerosis 1
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBB
|
ubiquitin B
|
|
VIM
|
vimentin
|
|
VRK1
|
vaccinia related kinase 1
|
|
WDR81
|
WD repeat domain 81
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
YAP1
|
Yes-associated protein 1
|
|
YWHAB
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta
|
|
YY1
|
YY1 transcription factor
|
|
ZNF592
|
zinc finger protein 592
|
