| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
AHCTF1
|
AT hook containing transcription factor 1
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AQP1
|
aquaporin 1 (Colton blood group)
|
|
AQP3
|
aquaporin 3 (Gill blood group)
|
|
AQP5
|
aquaporin 5
|
|
ASPA
|
aspartoacylase
|
|
ASUN
|
asunder spermatogenesis regulator
|
|
BAD
|
BCL2-associated agonist of cell death
|
|
BAX
|
BCL2-associated X protein
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BMP7
|
bone morphogenetic protein 7
|
|
CACNA1C
|
calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
CACNA1S
|
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
CAMP
|
cathelicidin antimicrobial peptide
|
|
CCL5
|
chemokine (C-C motif) ligand 5
|
|
CD63
|
CD63 molecule
|
|
CD9
|
CD9 molecule
|
|
CDK1
|
cyclin-dependent kinase 1
|
|
CDK2
|
cyclin-dependent kinase 2
|
|
CENPF
|
centromere protein F, 350/400kDa
|
|
CETN2
|
centrin, EF-hand protein, 2
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CKMT1A
|
creatine kinase, mitochondrial 1A
|
|
CKMT1B
|
creatine kinase, mitochondrial 1B
|
|
CLCA1
|
chloride channel accessory 1
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
CLDN10
|
claudin 10
|
|
CLDN2
|
claudin 2
|
|
CNGA2
|
cyclic nucleotide gated channel alpha 2
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
DEFA1
|
defensin, alpha 1
|
|
DNM1
|
dynamin 1
|
|
DNM1L
|
dynamin 1-like
|
|
EGFR
|
epidermal growth factor receptor
|
|
EIF4E
|
eukaryotic translation initiation factor 4E
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERG
|
v-ets avian erythroblastosis virus E26 oncogene homolog
|
|
FGA
|
fibrinogen alpha chain
|
|
FGF2
|
fibroblast growth factor 2 (basic)
|
|
FKBP1B
|
FK506 binding protein 1B, 12.6 kDa
|
|
FTMT
|
ferritin mitochondrial
|
|
GJA3
|
gap junction protein, alpha 3, 46kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GNAI2
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
|
|
GRIA1
|
glutamate receptor, ionotropic, AMPA 1
|
|
GSTM2
|
glutathione S-transferase mu 2 (muscle)
|
|
HCN4
|
hyperpolarization activated cyclic nucleotide gated potassium channel 4
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HTR3A
|
5-hydroxytryptamine (serotonin) receptor 3A, ionotropic
|
|
HTT
|
huntingtin
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNA2
|
potassium channel, voltage gated shaker related subfamily A, member 2
|
|
KCNA5
|
potassium channel, voltage gated shaker related subfamily A, member 5
|
|
KCNAB1
|
potassium channel, voltage gated subfamily A regulatory beta subunit 1
|
|
KCNE1
|
potassium channel, voltage gated subfamily E regulatory beta subunit 1
|
|
KCNE2
|
potassium channel, voltage gated subfamily E regulatory beta subunit 2
|
|
KCNH1
|
potassium channel, voltage gated eag related subfamily H, member 1
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KCNK3
|
potassium channel, two pore domain subfamily K, member 3
|
|
KCNK4
|
potassium channel, two pore domain subfamily K, member 4
|
|
KCNK9
|
potassium channel, two pore domain subfamily K, member 9
|
|
KCNN4
|
potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
KCNQ4
|
potassium channel, voltage gated KQT-like subfamily Q, member 4
|
|
KCNT2
|
potassium channel, sodium activated subfamily T, member 2
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KIF5B
|
kinesin family member 5B
|
|
KPNB1
|
karyopherin (importin) beta 1
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LMNA
|
lamin A/C
|
|
MAD1L1
|
MAD1 mitotic arrest deficient-like 1 (yeast)
|
|
MAD2L1
|
MAD2 mitotic arrest deficient-like 1 (yeast)
|
|
MAL
|
mal, T-cell differentiation protein
|
|
MCOLN1
|
mucolipin 1
|
|
MCOLN3
|
mucolipin 3
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MYO1C
|
myosin IC
|
|
NDC1
|
NDC1 transmembrane nucleoporin
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NPAP1
|
nuclear pore associated protein 1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NRG1
|
neuregulin 1
|
|
NUP107
|
nucleoporin 107kDa
|
|
NUP133
|
nucleoporin 133kDa
|
|
NUP153
|
nucleoporin 153kDa
|
|
NUP155
|
nucleoporin 155kDa
|
|
NUP160
|
nucleoporin 160kDa
|
|
NUP205
|
nucleoporin 205kDa
|
|
NUP210
|
nucleoporin 210kDa
|
|
NUP214
|
nucleoporin 214kDa
|
|
NUP35
|
nucleoporin 35kDa
|
|
NUP62
|
nucleoporin 62kDa
|
|
NUP88
|
nucleoporin 88kDa
|
|
NUP93
|
nucleoporin 93kDa
|
|
NUP98
|
nucleoporin 98kDa
|
|
NUTF2
|
nuclear transport factor 2
|
|
NXF1
|
nuclear RNA export factor 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
P2RX4
|
purinergic receptor P2X, ligand gated ion channel, 4
|
|
P2RX7
|
purinergic receptor P2X, ligand gated ion channel, 7
|
|
PACSIN3
|
protein kinase C and casein kinase substrate in neurons 3
|
|
PANX1
|
pannexin 1
|
|
PDPK1
|
3-phosphoinositide dependent protein kinase 1
|
|
PDYN
|
prodynorphin
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PNPT1
|
polyribonucleotide nucleotidyltransferase 1
|
|
POM121
|
POM121 transmembrane nucleoporin
|
|
POMZP3
|
POM121 and ZP3 fusion
|
|
PPID
|
peptidylprolyl isomerase D
|
|
PSEN1
|
presenilin 1
|
|
PSENEN
|
presenilin enhancer gamma secretase subunit
|
|
PTPN6
|
protein tyrosine phosphatase, non-receptor type 6
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAN
|
RAN, member RAS oncogene family
|
|
RANBP2
|
RAN binding protein 2
|
|
RAPGEF3
|
Rap guanine nucleotide exchange factor (GEF) 3
|
|
RCAN1
|
regulator of calcineurin 1
|
|
REG3A
|
regenerating islet-derived 3 alpha
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
SCAMP2
|
secretory carrier membrane protein 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SENP2
|
SUMO1/sentrin/SMT3 specific peptidase 2
|
|
SIRT4
|
sirtuin 4
|
|
SLC1A2
|
solute carrier family 1 (glial high affinity glutamate transporter), member 2
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC1A6
|
solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC31A1
|
solute carrier family 31 (copper transporter), member 1
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SMDT1
|
single-pass membrane protein with aspartate-rich tail 1
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNUPN
|
snurportin 1
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SRC
|
SRC proto-oncogene, non-receptor tyrosine kinase
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
STX1A
|
syntaxin 1A (brain)
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SUMO1
|
small ubiquitin-like modifier 1
|
|
SUN1
|
Sad1 and UNC84 domain containing 1
|
|
TCF7L2
|
transcription factor 7-like 2 (T-cell specific, HMG-box)
|
|
TIMM10
|
translocase of inner mitochondrial membrane 10 homolog (yeast)
|
|
TIMM9
|
translocase of inner mitochondrial membrane 9 homolog (yeast)
|
|
TMBIM6
|
transmembrane BAX inhibitor motif containing 6
|
|
TNF
|
tumor necrosis factor
|
|
TP53
|
tumor protein p53
|
|
TPR
|
translocated promoter region, nuclear basket protein
|
|
TRPA1
|
transient receptor potential cation channel, subfamily A, member 1
|
|
TRPC1
|
transient receptor potential cation channel, subfamily C, member 1
|
|
TRPM2
|
transient receptor potential cation channel, subfamily M, member 2
|
|
TRPM3
|
transient receptor potential cation channel, subfamily M, member 3
|
|
TRPM5
|
transient receptor potential cation channel, subfamily M, member 5
|
|
TRPM6
|
transient receptor potential cation channel, subfamily M, member 6
|
|
TRPM7
|
transient receptor potential cation channel, subfamily M, member 7
|
|
TRPM8
|
transient receptor potential cation channel, subfamily M, member 8
|
|
TRPV1
|
transient receptor potential cation channel, subfamily V, member 1
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSPO
|
translocator protein (18kDa)
|
|
UBE2I
|
ubiquitin-conjugating enzyme E2I
|
|
UCN2
|
urocortin 2
|
|
VCP
|
valosin containing protein
|
|
VDAC1
|
voltage-dependent anion channel 1
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
WRNIP1
|
Werner helicase interacting protein 1
|
|
XPO1
|
exportin 1
|
