| Symbol |
Name |
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ANO10
|
anoctamin 10
|
|
APLP2
|
amyloid beta (A4) precursor-like protein 2
|
|
APOB
|
apolipoprotein B
|
|
APOE
|
apolipoprotein E
|
|
APOH
|
apolipoprotein H (beta-2-glycoprotein I)
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APTX
|
aprataxin
|
|
ASIC1
|
acid sensing (proton gated) ion channel 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATN1
|
atrophin 1
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN1L
|
ataxin 1-like
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
ATXN8
|
ataxin 8
|
|
ATXN8OS
|
ATXN8 opposite strand (non-protein coding)
|
|
BAK1
|
BCL2-antagonist/killer 1
|
|
BAX
|
BCL2-associated X protein
|
|
BCL6
|
B-cell CLL/lymphoma 6
|
|
BEAN1
|
brain expressed, associated with NEDD4, 1
|
|
BIK
|
BCL2-interacting killer (apoptosis-inducing)
|
|
BMI1
|
BMI1 proto-oncogene, polycomb ring finger
|
|
BORA
|
bora, aurora kinase A activator
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CA8
|
carbonic anhydrase VIII
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA2D2
|
calcium channel, voltage-dependent, alpha 2/delta subunit 2
|
|
CCDC6
|
coiled-coil domain containing 6
|
|
CCDC88C
|
coiled-coil domain containing 88C
|
|
CD40LG
|
CD40 ligand
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CHEK1
|
checkpoint kinase 1
|
|
CHEK2
|
checkpoint kinase 2
|
|
CNTN4
|
contactin 4
|
|
CWF19L1
|
CWF19-like 1, cell cycle control (S. pombe)
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DBF4
|
DBF4 zinc finger
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
E2F1
|
E2F transcription factor 1
|
|
E2F3
|
E2F transcription factor 3
|
|
EEF2
|
eukaryotic translation elongation factor 2
|
|
EIF2B2
|
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
FAS
|
Fas cell surface death receptor
|
|
FGF14
|
fibroblast growth factor 14
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
FTMT
|
ferritin mitochondrial
|
|
FXN
|
frataxin
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GAD2
|
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
|
|
GBA
|
glucosidase, beta, acid
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GRID2
|
glutamate receptor, ionotropic, delta 2
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
H2AFX
|
H2A histone family, member X
|
|
HFE
|
hemochromatosis
|
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HIST3H3
|
histone cluster 3, H3
|
|
HSPA4
|
heat shock 70kDa protein 4
|
|
HTT
|
huntingtin
|
|
IFNB1
|
interferon, beta 1, fibroblast
|
|
IFNG
|
interferon, gamma
|
|
ISG15
|
ISG15 ubiquitin-like modifier
|
|
ITGAV
|
integrin, alpha V
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNA4
|
potassium channel, voltage gated shaker related subfamily A, member 4
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KIAA0226
|
KIAA0226
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAPK14
|
mitogen-activated protein kinase 14
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MIR214
|
microRNA 214
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MVK
|
mevalonate kinase
|
|
MYB
|
v-myb avian myeloblastosis viral oncogene homolog
|
|
NBN
|
nibrin
|
|
NEDD4
|
neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NFE2L2
|
nuclear factor, erythroid 2-like 2
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OTUD4
|
OTU deubiquitinase 4
|
|
PARP1
|
poly (ADP-ribose) polymerase 1
|
|
PDHB
|
pyruvate dehydrogenase (lipoamide) beta
|
|
PDYN
|
prodynorphin
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PICK1
|
protein interacting with PRKCA 1
|
|
PIP5K1B
|
phosphatidylinositol-4-phosphate 5-kinase, type I, beta
|
|
PLAT
|
plasminogen activator, tissue
|
|
PLEKHG4
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 4
|
|
PLK1
|
polo-like kinase 1
|
|
PMM2
|
phosphomannomutase 2
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPARGC1A
|
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
|
|
PPP1CC
|
protein phosphatase 1, catalytic subunit, gamma isozyme
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRKDC
|
protein kinase, DNA-activated, catalytic polypeptide
|
|
PSEN1
|
presenilin 1
|
|
RAD50
|
RAD50 homolog (S. cerevisiae)
|
|
RHNO1
|
RAD9-HUS1-RAD1 interacting nuclear orphan 1
|
|
RNF170
|
ring finger protein 170
|
|
RNF216
|
ring finger protein 216
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SACS
|
sacsin molecular chaperone
|
|
SAX1
|
spastic ataxia 1 (autosomal dominant)
|
|
SCA21
|
spinocerebellar ataxia 21
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SETX
|
senataxin
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SNX14
|
sorting nexin 14
|
|
SORBS1
|
sorbin and SH3 domain containing 1
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SQSTM1
|
sequestosome 1
|
|
SRC
|
SRC proto-oncogene, non-receptor tyrosine kinase
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYT14
|
synaptotagmin XIV
|
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
|
TBP
|
TATA box binding protein
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TELO2
|
telomere maintenance 2
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TGM3
|
transglutaminase 3
|
|
TGM6
|
transglutaminase 6
|
|
TMEM240
|
transmembrane protein 240
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TP53
|
tumor protein p53
|
|
TRPC3
|
transient receptor potential cation channel, subfamily C, member 3
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TTBK2
|
tau tubulin kinase 2
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TYR
|
tyrosinase
|
|
UBR4
|
ubiquitin protein ligase E3 component n-recognin 4
|
|
UPF1
|
UPF1 regulator of nonsense transcripts homolog (yeast)
|
|
USP14
|
ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VCP
|
valosin containing protein
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
ZNF148
|
zinc finger protein 148
|
|
ZNF592
|
zinc finger protein 592
|
