CHRNB2

Chr 1

cholinergic receptor nicotinic beta 2 subunit

Also known as: EFNL3, nAChRB2

NCBI Gene: 1141 ENSG00000160716 UniProt: P17787

This protein forms the beta-2 subunit of pentameric neuronal acetylcholine receptors, which are ligand-gated cation channels with high calcium permeability that mediate excitatory synaptic transmission in the nervous system. Mutations cause autosomal dominant nocturnal frontal lobe epilepsy, a form of epilepsy characterized by seizures that occur predominantly during sleep. The gene shows tolerance to loss-of-function variants (pLI 0.0007), suggesting the pathogenic variants likely affect receptor function through other mechanisms.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEpilepsy, nocturnal frontal lobe, 3

Clinical highlights

Gene-disease validity (ClinGen)

familial sleep-related hypermotor epilepsy · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.82

LOEUF

GOF*

Mechanism· G2P

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GeneReview available — CHRNB2