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ETL2
Chr 12ADepilepsy, familial temporal lobe
Also known as: FTLE
ETL2 encodes a protein involved in neuronal function and synaptic transmission. Mutations cause familial temporal lobe epilepsy type 2, which typically presents as focal seizures originating from the temporal lobe. The condition follows an autosomal dominant inheritance pattern.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ETL2?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
ETL2 · 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
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Links to major genomics databases and tools