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EA2
Chr 19ADcalcium voltage-gated channel subunit alpha1 A
Also known as: APCA, BI, CACNL1A4, CAV2.1, DEE42, EA2, EIEE42, FHM
The alpha-1A subunit forms the pore of voltage-dependent calcium channels and directs calcium entry into neurons, which is essential for neurotransmitter release and muscle contraction. Mutations cause episodic ataxia type 2 through autosomal dominant inheritance, typically by disrupting normal calcium channel function in cerebellar and other neuronal tissues. CAG repeat expansions in the coding region (21-33 repeats vs normal 4-18) cause spinocerebellar ataxia 6 by creating a toxic polyglutamine tract.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/EA2?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
EA2 · 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
External Resources
Links to major genomics databases and tools