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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATXN10-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Apraxia oculomotor Cogan type Apraxia Pubtator 25630585 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 9973298 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia, Spinocerebellar Spinocerebellar Ataxia BEFREE 10712199, 19659750, 22492559, 26077168
★☆☆☆☆
Found in Text Mining only
Ataxia, Spinocerebellar Spinocerebellar Ataxia LHGDN 11891842, 16385455, 18386626, 19171184
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 34858081 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35247911 Associate
★☆☆☆☆
Found in Text Mining only
Complex partial seizure with impairment of consciousness Dyscognitive seizures HPO_DG
★☆☆☆☆
Found in Text Mining only
Complex partial seizures Seizure HPO_DG
★☆☆☆☆
Found in Text Mining only