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SCA40
Chr 14ADcoiled-coil and HOOK domain protein 88C
Also known as: DAPLE, HKRP2, HYC1, KIAA1509, SCA40
The encoded protein is a coiled-coil domain-containing protein that negatively regulates the Wnt signaling pathway through interaction with dishevelled protein. Mutations cause spinocerebellar ataxia 40, inherited in an autosomal dominant pattern. The gene is also associated with autosomal recessive congenital hydrocephalus, indicating its importance in cerebrospinal fluid regulation and cerebellar function.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCA40?content-type=application/json&expand=1
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SCA40 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools