ATXN8 (ataxin 8)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 724066
Gene name Ataxin 8
Gene symbol ATXN8
Synonyms (NCBI Gene)
-
Chromosome 13
Chromosome location 13q21
Summary Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directi
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613289 32925 HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q156A1
Protein name Ataxin-8 (Protein 1C2)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Specifically found in brains from SCA8 patients (at protein level). {ECO:0000269|PubMed:16804541}.
Sequence 
MQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQ
QQQQQQQQQQQQQQQQQQQQ
Sequence length 80
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (2)
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
SPINOCEREBELLAR ATAXIA 8 — CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA TYPE 8 — ClinVar, GenCC, Orphanet
ClinVar, GenCC, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (23)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ataxia Ataxia Pubtator 10712199, 34600502 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31173245 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebellar Ataxia Cerebellar ataxia Pubtator 12545428 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Deglutition Disorders Dysphagia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Dysarthria Dysarthria HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Erectile dysfunction Erectile Dysfunction HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Frontotemporal Dementia Frontotemporal dementia Pubtator 37146135 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Movement Disorders Movement Disorders BEFREE 20403608
★★★★★
★☆☆☆☆
Found in Text Mining only