Gene Gene information from NCBI Gene database.
Entrez ID 25814
Gene name Ataxin 10
Gene symbol ATXN10
Synonyms (NCBI Gene)
ATX10E46LHUMEEPSCA10
Chromosome 22
Chromosome location 22q13.31
Summary This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 8
miRNA miRNA information provided by mirtarbase database.
264
miRTarBase ID miRNA Experiments Reference
MIRT020830 hsa-miR-155-5p Proteomics 18668040
MIRT028592 hsa-miR-30a-5p Proteomics 18668040
MIRT046248 hsa-miR-23b-3p CLASH 23622248
MIRT158763 hsa-miR-21-5p HITS-CLIP 22473208
MIRT158763 hsa-miR-21-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16498633, 21565611, 26496610, 32814053, 35271311
GO:0005615 Component Extracellular space HDA 23580065
GO:0005737 Component Cytoplasm IDA 15201271, 25666058
GO:0005737 Component Cytoplasm IEA
GO:0005814 Component Centriole IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611150 10549 ENSG00000130638
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBB4
Protein name Ataxin-10 (Brain protein E46 homolog) (Spinocerebellar ataxia type 10 protein)
Protein function May play a role in the regulation of cytokinesis (PubMed:21857149, PubMed:25666058). May play a role in signaling by stimulating protein glycosylation. Induces neuritogenesis by activating the Ras-MAP kinase pathway and is necessary for the surv
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09759 Atx10homo_assoc 370 467 Spinocerebellar ataxia type 10 protein domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the central nervous system. {ECO:0000269|PubMed:15201271}.
Sequence
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPRTIFQRVLDILKKSSHA
VELACRDPSQVENLASSLQLITECFRCLRNACIECSVNQNSIRNLDTIGVAVDLILLFRE
LRVEQESLLTAFRCGLQFLGNIASRNEDSQSIVWVHAFPELFLSCLNHPDKKIVAYSSMI
LFTSLNHERMKELEENLNIAIDVIDAYQKHPESEWPFLIITDLFLKSPELVQAMFPKLNN
QERVTLLDLMIAKITSDEPLTKDDIPVFLRHAELIASTFVDQCKTVLKLASEEPPDDEEA
LATIRLLDVLCEMTVNTELLGYLQVFPGLLERVIDLLRVIHVAGKETTNIFSNCGCVRAE
GDISNVANGFKSHLIRLIGNLCYKNKDNQDKVNELDGIPLILDNCNISDSNPFLTQWVIY
AIRNLTEDNSQNQDLIAKMEEQGLADASLLKKVGFEVEKKGEKLILK
STRDTPKP
Sequence length 475
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Spinocerebellar ataxia  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATXN10-related disorder Likely benign rs140005836, rs143763891 RCV003942123
RCV004758953
Familial cancer of breast Benign rs3887390 RCV005918579
Gastric cancer Uncertain significance rs758820148 RCV005929868
Spinocerebellar ataxia type 10 Uncertain significance; Benign; Likely benign rs199766375, rs60726084, rs2518094719, rs61733598, rs764854879, rs1296770412, rs1160067775 RCV001849214
RCV000001054
RCV002287241
RCV002492773
RCV003990874
RCV001195761
RCV001196584
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Apraxia oculomotor Cogan type Associate 25630585
Ataxia Associate 9973298
Atherosclerosis Associate 34858081
Colorectal Neoplasms Associate 35247911
Communicable Diseases Associate 31061469
Epilepsy Associate 24935856
Friedreich Ataxia Associate 15096564
Glioma Associate 40214613
Immunoglobulin G4 Related Disease Stimulate 32745980
Inflammation Inhibit 34858081