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ENFL2
Chr 15ADEpilepsy, nocturnal frontal lobe, type 2
The protein encoded by this gene functions as a neuronal nicotinic acetylcholine receptor subunit involved in cholinergic neurotransmission. Mutations cause nocturnal frontal lobe epilepsy type 2, characterized by seizures that typically occur during sleep and affect the frontal cortex. This condition follows an autosomal dominant inheritance pattern with age of onset typically in childhood or adolescence.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ENFL2?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
ENFL2 · 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 →No open access results found
External Resources
Links to major genomics databases and tools