ataxia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001393
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Genes

191 gene mutations causing the ataxia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2
ABHD12 abhydrolase domain containing 12
ACP2 acid phosphatase 2, lysosomal
ADAM22 ADAM metallopeptidase domain 22
ADAM23 ADAM metallopeptidase domain 23
AFF1 AF4/FMR2 family, member 1
AGA aspartylglucosaminidase
AGTPBP1 ATP/GTP binding protein 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1
ARCN1 archain 1
ARHGAP10 Rho GTPase activating protein 10
ARSA arylsulfatase A
ASPA aspartoacylase
ATCAY ataxia, cerebellar, Cayman type
ATF2 activating transcription factor 2
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATXN1 ataxin 1
ATXN7 ataxin 7
BDNF brain-derived neurotrophic factor
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BSN bassoon presynaptic cytomatrix protein
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
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CALB1 calbindin 1, 28kDa
CAMK2B calcium/calmodulin-dependent protein kinase II beta
CAMK4 calcium/calmodulin-dependent protein kinase IV
CANX calnexin
CBLN1 cerebellin 1 precursor
CCR10 chemokine (C-C motif) receptor 10
CDH23 cadherin-related 23
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CERS1 ceramide synthase 1
CFL1 cofilin 1 (non-muscle)
CHP1 calcineurin-like EF-hand protein 1
CIT citron rho-interacting serine/threonine kinase
CLCN1 chloride channel, voltage-sensitive 1
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLP1 cleavage and polyadenylation factor I subunit 1
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN1 contactin 1
CNTNAP1 contactin associated protein 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CPLX1 complexin 1
CSTB cystatin B (stefin B)
CTNNA2 catenin (cadherin-associated protein), alpha 2
CTSA cathepsin A
CTSD cathepsin D
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DAO D-amino-acid oxidase
DCC DCC netrin 1 receptor
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNM1 dynamin 1
DOCK3 dedicator of cytokinesis 3
DRD2 dopamine receptor D2
DST dystonin
E2F5 E2F transcription factor 5, p130-binding
EGR3 early growth response 3
EN1 engrailed homeobox 1
EPB41L3 erythrocyte membrane protein band 4.1-like 3
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERCC1 excision repair cross-complementation group 1
ETV1 ets variant 1
F3 coagulation factor III (thromboplastin, tissue factor)
FGF14 fibroblast growth factor 14
FZD4 frizzled class receptor 4
GAL3ST1 galactose-3-O-sulfotransferase 1
GALC galactosylceramidase
GFI1 growth factor independent 1 transcription repressor
GLB1 galactosidase, beta 1
GLRA1 glycine receptor, alpha 1
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GRID2 glutamate receptor, ionotropic, delta 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRM1 glutamate receptor, metabotropic 1
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HEXB hexosaminidase B (beta polypeptide)
HMBS hydroxymethylbilane synthase
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HYDIN HYDIN, axonemal central pair apparatus protein
IFIT2 interferon-induced protein with tetratricopeptide repeats 2
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa
IREB2 iron-responsive element binding protein 2
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNN2 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2
KCNV1 potassium channel, voltage gated modifier subfamily V, member 1
KIF14 kinesin family member 14
KIF1A kinesin family member 1A
LAMA2 laminin, alpha 2
LAMA4 laminin, alpha 4
LMX1A LIM homeobox transcription factor 1, alpha
LOC102723475 putative uncharacterized protein LOC388820
MAP1B microtubule-associated protein 1B
MAPT microtubule-associated protein tau
MBP myelin basic protein
MECP2 methyl CpG binding protein 2
MFSD2A major facilitator superfamily domain containing 2A
MSI1 musashi RNA-binding protein 1
MYH10 myosin, heavy chain 10, non-muscle
MYO5A myosin VA (heavy chain 12, myoxin)
NAPB N-ethylmaleimide-sensitive factor attachment protein, beta
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEUROD1 neuronal differentiation 1
NEUROD2 neuronal differentiation 2
NEUROD4 neuronal differentiation 4
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NGFR nerve growth factor receptor
NINJ1 ninjurin 1
NLK nemo-like kinase
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NTF3 neurotrophin 3
PCDH15 protocadherin-related 15
PFDN5 prefoldin subunit 5
PHYH phytanoyl-CoA 2-hydroxylase
PITPNA phosphatidylinositol transfer protein, alpha
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCB4 phospholipase C, beta 4
PLP1 proteolipid protein 1
PLXNA2 plexin A2
PMP22 peripheral myelin protein 22
PPT2 palmitoyl-protein thioesterase 2
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRNP prion protein
PSAP prosaposin
PTRH2 peptidyl-tRNA hydrolase 2
QKI QKI, KH domain containing, RNA binding
RELN reelin
RHBDF1 rhomboid 5 homolog 1 (Drosophila)
RND3 Rho family GTPase 3
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
RORA RAR-related orphan receptor A
RPL27A ribosomal protein L27a
RUNX3 runt-related transcription factor 3
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEPP1 selenoprotein P, plasma, 1
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SIL1 SIL1 nucleotide exchange factor
SKOR2 SKI family transcriptional corepressor 2
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAP25 synaptosomal-associated protein, 25kDa
SOD2 superoxide dismutase 2, mitochondrial
SPTBN2 spectrin, beta, non-erythrocytic 2
SPTBN4 spectrin, beta, non-erythrocytic 4
STK36 serine/threonine kinase 36
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
STX1B syntaxin 1B
SYNJ1 synaptojanin 1
SYT2 synaptotagmin II
TMEM176B transmembrane protein 176B
TP53 tumor protein p53
TPP1 tripeptidyl peptidase I
TRIM2 tripartite motif containing 2
TTL tubulin tyrosine ligase
TTPA tocopherol (alpha) transfer protein
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UGT8 UDP glycosyltransferase 8
UNC5C unc-5 homolog C (C. elegans)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VAC14 Vac14 homolog (S. cerevisiae)
VIPR1 vasoactive intestinal peptide receptor 1
WNT1 wingless-type MMTV integration site family, member 1
ZIC1 Zic family member 1
ZIC4 Zic family member 4
ZNF423 zinc finger protein 423