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SCA2
Chr 12ataxin 2
Also known as: ATX2, SCA2, TNRC13
The ataxin-2 protein localizes to the endoplasmic reticulum and plasma membrane where it regulates endocytosis and modulates mTOR signaling pathways that affect ribosomal translation and mitochondrial function. Pathogenic CAG repeat expansions in this gene cause spinocerebellar ataxia type 2, an autosomal dominant progressive neurodegenerative disorder affecting the cerebellum and brainstem, while intermediate-length expansions increase susceptibility to amyotrophic lateral sclerosis. The disease typically presents in adulthood with progressive cerebellar ataxia, though onset and severity correlate with repeat length.
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCA2?content-type=application/json&expand=1
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SCA2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RECRUITINGStudy of ARO-ATXN2 Injection in Adults With Spinocerebellar Ataxia Type 2
RECRUITINGExternal Resources
Links to major genomics databases and tools