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SCAN2
Chr 9ARsenataxin
Also known as: ALS4, AOA2, SCAN2, SCAR1, STEX, Sen1, bA479K20.2
The protein is a DNA/RNA helicase involved in both DNA and RNA processing. Mutations cause spinocerebellar ataxia with axonal neuropathy type 2, a progressive neurodegenerative disorder affecting the cerebellum and peripheral nerves. The condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCAN2?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SCAN2 · 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
RECRUITINGA Study of Niraparib in Combination With Abiraterone Acetate and Prednisone Versus Abiraterone Acetate and Prednisone for Treatment of Participants With Metastatic Prostate Cancer
ACTIVE NOT RECRUITINGClinical Manifestations and Biomarkers in Amyotrophic Lateral Sclerosis Type 4 and Other Inherited Neurological Disorders of RNA Processing
RECRUITINGA 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy.
RECRUITINGExternal Resources
Links to major genomics databases and tools