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EA1
Chr 12CD69 molecule
Also known as: AIM, BL-AC/P26, CLEC2C, EA1, GP32/28, MLR-3
This gene encodes a calcium-dependent lectin that functions as a type II transmembrane receptor involved in T lymphocyte activation and signal transmission in natural killer cells and platelets. Mutations cause episodic ataxia/myokymia syndrome, characterized by intermittent episodes of ataxia and continuous muscle fiber activity. The condition follows autosomal dominant inheritance.
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/EA1?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
EA1 · 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