| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ABR
|
active BCR-related
|
|
ACAN
|
aggrecan
|
|
ACTL6A
|
actin-like 6A
|
|
ADARB1
|
adenosine deaminase, RNA-specific, B1
|
|
ADORA2A
|
adenosine A2a receptor
|
|
AGRN
|
agrin
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ALPK1
|
alpha-kinase 1
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANO1
|
anoctamin 1, calcium activated chloride channel
|
|
AP1AR
|
adaptor-related protein complex 1 associated regulatory protein
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APTX
|
aprataxin
|
|
AR
|
androgen receptor
|
|
ARF6
|
ADP-ribosylation factor 6
|
|
ARHGEF28
|
Rho guanine nucleotide exchange factor (GEF) 28
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP2A1
|
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
|
|
ATP5A1
|
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
|
|
ATP5B
|
ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide
|
|
ATP5C1
|
ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN2
|
ataxin 2
|
|
BANK1
|
B-cell scaffold protein with ankyrin repeats 1
|
|
BCL11A
|
B-cell CLL/lymphoma 11A (zinc finger protein)
|
|
BCL11B
|
B-cell CLL/lymphoma 11B (zinc finger protein)
|
|
BCL2L1
|
BCL2-like 1
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BECN1
|
beclin 1, autophagy related
|
|
BGN
|
biglycan
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BLK
|
BLK proto-oncogene, Src family tyrosine kinase
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTBD10
|
BTB (POZ) domain containing 10
|
|
C4ORF48
|
chromosome 4 open reading frame 48
|
|
C8ORF4
|
chromosome 8 open reading frame 4
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1S
|
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
CALB2
|
calbindin 2
|
|
CALM1
|
calmodulin 1 (phosphorylase kinase, delta)
|
|
CALU
|
calumenin
|
|
CAPN1
|
calpain 1, (mu/I) large subunit
|
|
CCKAR
|
cholecystokinin A receptor
|
|
CD1A
|
CD1a molecule
|
|
CD1E
|
CD1e molecule
|
|
CDC42
|
cell division cycle 42
|
|
CDH2
|
cadherin 2, type 1, N-cadherin (neuronal)
|
|
CDH5
|
cadherin 5, type 2 (vascular endothelium)
|
|
CDK1
|
cyclin-dependent kinase 1
|
|
CDK5R1
|
cyclin-dependent kinase 5, regulatory subunit 1 (p35)
|
|
CENPE
|
centromere protein E, 312kDa
|
|
CHD4
|
chromodomain helicase DNA binding protein 4
|
|
CHGB
|
chromogranin B
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHN1
|
chimerin 1
|
|
CKB
|
creatine kinase, brain
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CNR1
|
cannabinoid receptor 1 (brain)
|
|
CNTN2
|
contactin 2 (axonal)
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COL17A1
|
collagen, type XVII, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
COPA
|
coatomer protein complex, subunit alpha
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CREB1
|
cAMP responsive element binding protein 1
|
|
CREBBP
|
CREB binding protein
|
|
CSF2
|
colony stimulating factor 2 (granulocyte-macrophage)
|
|
CSF3
|
colony stimulating factor 3 (granulocyte)
|
|
CSNK2A2
|
casein kinase 2, alpha prime polypeptide
|
|
CTSB
|
cathepsin B
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYP1A1
|
cytochrome P450, family 1, subfamily A, polypeptide 1
|
|
DAOA
|
D-amino acid oxidase activator
|
|
DCTN1
|
dynactin 1
|
|
DDIT3
|
DNA-damage-inducible transcript 3
|
|
DDX20
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 20
|
|
DDX5
|
DEAD (Asp-Glu-Ala-Asp) box helicase 5
|
|
DKK3
|
dickkopf WNT signaling pathway inhibitor 3
|
|
DLG1
|
discs, large homolog 1 (Drosophila)
|
|
DNAH1
|
dynein, axonemal, heavy chain 1
|
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
DNM1
|
dynamin 1
|
|
DNM2
|
dynamin 2
|
|
DRD1
|
dopamine receptor D1
|
|
DRD2
|
dopamine receptor D2
|
|
DRD3
|
dopamine receptor D3
|
|
DUX4L1
|
double homeobox 4 like 1
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
DYNLL1
|
dynein, light chain, LC8-type 1
|
|
DYNLT1
|
dynein, light chain, Tctex-type 1
|
|
EPHA4
|
EPH receptor A4
|
|
EPO
|
erythropoietin
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
EWSR1
|
EWS RNA-binding protein 1
|
|
FCGR2B
|
Fc fragment of IgG, low affinity IIb, receptor (CD32)
|
|
FEZ1
|
fasciculation and elongation protein zeta 1 (zygin I)
|
|
FGF13
|
fibroblast growth factor 13
|
|
FGF2
|
fibroblast growth factor 2 (basic)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKBP1A
|
FK506 binding protein 1A, 12kDa
|
|
FKBP5
|
FK506 binding protein 5
|
|
FMOD
|
fibromodulin
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXP2
|
forkhead box P2
|
|
FRMD7
|
FERM domain containing 7
|
|
FUS
|
FUS RNA binding protein
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GABRA2
|
gamma-aminobutyric acid (GABA) A receptor, alpha 2
|
|
GABRB2
|
gamma-aminobutyric acid (GABA) A receptor, beta 2
|
|
GABRB3
|
gamma-aminobutyric acid (GABA) A receptor, beta 3
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GAS7
|
growth arrest-specific 7
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GCG
|
glucagon
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GEMIN2
|
gem (nuclear organelle) associated protein 2
|
|
GEMIN7
|
gem (nuclear organelle) associated protein 7
|
|
GFRA1
|
GDNF family receptor alpha 1
|
|
GFRA2
|
GDNF family receptor alpha 2
|
|
GH1
|
growth hormone 1
|
|
GHRL
|
ghrelin/obestatin prepropeptide
|
|
GPNMB
|
glycoprotein (transmembrane) nmb
|
|
GRIA2
|
glutamate receptor, ionotropic, AMPA 2
|
|
GRID2
|
glutamate receptor, ionotropic, delta 2
|
|
GRIN1
|
glutamate receptor, ionotropic, N-methyl D-aspartate 1
|
|
GRM5
|
glutamate receptor, metabotropic 5
|
|
GRN
|
granulin
|
|
GSK3B
|
glycogen synthase kinase 3 beta
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC6
|
histone deacetylase 6
|
|
HECW1
|
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HMGB1
|
high mobility group box 1
|
|
HMGN1
|
high mobility group nucleosome binding domain 1
|
|
HMGN2
|
high mobility group nucleosomal binding domain 2
|
|
HMOX1
|
heme oxygenase 1
|
|
HNRNPA1
|
heterogeneous nuclear ribonucleoprotein A1
|
|
HNRNPA2B1
|
heterogeneous nuclear ribonucleoprotein A2/B1
|
|
HSF1
|
heat shock transcription factor 1
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB2
|
heat shock 27kDa protein 2
|
|
HSPB3
|
heat shock 27kDa protein 3
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
HTR2A
|
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
|
|
HTRA2
|
HtrA serine peptidase 2
|
|
HTT
|
huntingtin
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IFNB1
|
interferon, beta 1, fibroblast
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IL6
|
interleukin 6
|
|
IL6R
|
interleukin 6 receptor
|
|
IMMT
|
inner membrane protein, mitochondrial
|
|
INS
|
insulin
|
|
ITPR2
|
inositol 1,4,5-trisphosphate receptor, type 2
|
|
JUN
|
jun proto-oncogene
|
|
KCNA5
|
potassium channel, voltage gated shaker related subfamily A, member 5
|
|
KCNB1
|
potassium channel, voltage gated Shab related subfamily B, member 1
|
|
KCNH3
|
potassium channel, voltage gated eag related subfamily H, member 3
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KDSR
|
3-ketodihydrosphingosine reductase
|
|
KIF11
|
kinesin family member 11
|
|
KIF13A
|
kinesin family member 13A
|
|
KIF13B
|
kinesin family member 13B
|
|
KIF15
|
kinesin family member 15
|
|
KIF17
|
kinesin family member 17
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF1C
|
kinesin family member 1C
|
|
KIF20B
|
kinesin family member 20B
|
|
KIF21A
|
kinesin family member 21A
|
|
KIF22
|
kinesin family member 22
|
|
KIF2C
|
kinesin family member 2C
|
|
KIF3A
|
kinesin family member 3A
|
|
KIF4A
|
kinesin family member 4A
|
|
KIF5A
|
kinesin family member 5A
|
|
KIF5B
|
kinesin family member 5B
|
|
KIF5C
|
kinesin family member 5C
|
|
KIF7
|
kinesin family member 7
|
|
KIFAP3
|
kinesin-associated protein 3
|
|
KIFC1
|
kinesin family member C1
|
|
KIFC3
|
kinesin family member C3
|
|
KLHL41
|
kelch-like family member 41
|
|
KTN1
|
kinectin 1 (kinesin receptor)
|
|
LDLRAP1
|
low density lipoprotein receptor adaptor protein 1
|
|
LHX5
|
LIM homeobox 5
|
|
LIX1
|
Lix1 homolog (chicken)
|
|
LOC643387
|
TAR DNA binding protein pseudogene
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MAPK14
|
mitogen-activated protein kinase 14
|
|
MAPK8IP1
|
mitogen-activated protein kinase 8 interacting protein 1
|
|
MAPRE1
|
microtubule-associated protein, RP/EB family, member 1
|
|
MAPRE3
|
microtubule-associated protein, RP/EB family, member 3
|
|
MAPT
|
microtubule-associated protein tau
|
|
MATR3
|
matrin 3
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MFN2
|
mitofusin 2
|
|
MLN
|
motilin
|
|
MPZ
|
myelin protein zero
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYH11
|
myosin, heavy chain 11, smooth muscle
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYH6
|
myosin, heavy chain 6, cardiac muscle, alpha
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYLK
|
myosin light chain kinase
|
|
MYO10
|
myosin X
|
|
MYO15A
|
myosin XVA
|
|
MYO19
|
myosin XIX
|
|
MYO1A
|
myosin IA
|
|
MYO1C
|
myosin IC
|
|
MYO3A
|
myosin IIIA
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
MYO5B
|
myosin VB
|
|
MYO5C
|
myosin VC
|
|
MYO6
|
myosin VI
|
|
MYO7A
|
myosin VIIA
|
|
MYO9B
|
myosin IXB
|
|
NCL
|
nucleolin
|
|
NDEL1
|
nudE neurodevelopment protein 1-like 1
|
|
NEAT1
|
nuclear paraspeckle assembly transcript 1 (non-protein coding)
|
|
NEFH
|
neurofilament, heavy polypeptide
|
|
NEUROG2
|
neurogenin 2
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NME2
|
NME/NM23 nucleoside diphosphate kinase 2
|
|
NME4
|
NME/NM23 nucleoside diphosphate kinase 4
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
NPFF
|
neuropeptide FF-amide peptide precursor
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NRG1
|
neuregulin 1
|
|
NRN1
|
neuritin 1
|
|
NUF2
|
NUF2, NDC80 kinetochore complex component
|
|
OLIG2
|
oligodendrocyte lineage transcription factor 2
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PABPC1
|
poly(A) binding protein, cytoplasmic 1
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PFN1
|
profilin 1
|
|
PIK3C2A
|
phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PLA2G4A
|
phospholipase A2, group IVA (cytosolic, calcium-dependent)
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLK1
|
polo-like kinase 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMC
|
proopiomelanocortin
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPARGC1A
|
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
|
|
PPIA
|
peptidylprolyl isomerase A (cyclophilin A)
|
|
PPP4C
|
protein phosphatase 4, catalytic subunit
|
|
PRC1
|
protein regulator of cytokinesis 1
|
|
PRPH
|
peripherin
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTN
|
pleiotrophin
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTX3
|
pentraxin 3, long
|
|
PVALB
|
parvalbumin
|
|
RAB1A
|
RAB1A, member RAS oncogene family
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAB43
|
RAB43, member RAS oncogene family
|
|
RAB5A
|
RAB5A, member RAS oncogene family
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAC1
|
ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
|
|
RAD51
|
RAD51 recombinase
|
|
RASL10A
|
RAS-like, family 10, member A
|
|
RBM4
|
RNA binding motif protein 4
|
|
REEP1
|
receptor accessory protein 1
|
|
RELA
|
v-rel avian reticuloendotheliosis viral oncogene homolog A
|
|
REST
|
RE1-silencing transcription factor
|
|
RET
|
ret proto-oncogene
|
|
RILP
|
Rab interacting lysosomal protein
|
|
ROBO1
|
roundabout, axon guidance receptor, homolog 1 (Drosophila)
|
|
RPS6
|
ribosomal protein S6
|
|
RUVBL1
|
RuvB-like AAA ATPase 1
|
|
S100B
|
S100 calcium binding protein B
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SEMA3C
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SHH
|
sonic hedgehog
|
|
SIN3A
|
SIN3 transcription regulator family member A
|
|
SLC12A5
|
solute carrier family 12 (potassium/chloride transporter), member 5
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC1A2
|
solute carrier family 1 (glial high affinity glutamate transporter), member 2
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC26A5
|
solute carrier family 26 (anion exchanger), member 5
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SLC6A6
|
solute carrier family 6 (neurotransmitter transporter), member 6
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLIT1
|
slit homolog 1 (Drosophila)
|
|
SLIT2
|
slit homolog 2 (Drosophila)
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SMS
|
spermine synthase
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNCAIP
|
synuclein, alpha interacting protein
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SRGAP1
|
SLIT-ROBO Rho GTPase activating protein 1
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
SYT2
|
synaptotagmin II
|
|
TAGLN3
|
transgelin 3
|
|
TARDBP
|
TAR DNA binding protein
|
|
TBCE
|
tubulin folding cofactor E
|
|
TFAM
|
transcription factor A, mitochondrial
|
|
TFG
|
TRK-fused gene
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TIA1
|
TIA1 cytotoxic granule-associated RNA binding protein
|
|
TMED10
|
transmembrane emp24-like trafficking protein 10 (yeast)
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TPX2
|
TPX2, microtubule-associated
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TRIM5
|
tripartite motif containing 5
|
|
TRIM72
|
tripartite motif containing 72, E3 ubiquitin protein ligase
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTN
|
titin
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UNC119
|
unc-119 homolog (C. elegans)
|
|
UTS2
|
urotensin 2
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VCP
|
valosin containing protein
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VGF
|
VGF nerve growth factor inducible
|
|
VRK1
|
vaccinia related kinase 1
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZFYVE27
|
zinc finger, FYVE domain containing 27
|
|
ZIC1
|
Zic family member 1
|
|
ZPR1
|
ZPR1 zinc finger
|
