ATXN8 Gene

HGNC Family Ataxins (ATXN)
Name ataxin 8
Description 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 directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010]
Proteins ATX8_HUMAN
NCBI Gene ID 724066
API
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Predicted Functions View ATXN8's ARCHS4 Predicted Functions.
Co-expressed Genes View ATXN8's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View ATXN8's ARCHS4 Predicted Functions.

Functional Associations

ATXN8 has 108 functional associations with biological entities spanning 2 categories (disease, phenotype or trait, functional term, phrase or reference) extracted from 6 datasets.

Click the + buttons to view associations for ATXN8 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
CTD Gene-Disease Associations diseases associated with ATXN8 gene/protein from the curated CTD Gene-Disease Associations dataset.
GAD Gene-Disease Associations diseases associated with ATXN8 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with ATXN8 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
HPO Gene-Disease Associations phenotypes associated with ATXN8 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with ATXN8 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
OMIM Gene-Disease Associations phenotypes associated with ATXN8 gene from the curated OMIM Gene-Disease Associations dataset.