KCNQ3

Chr 8

potassium voltage-gated channel subfamily Q member 3

Also known as: BFNC2, EBN2, KV7.3

NCBI Gene: 3786 ENSG00000184156 UniProt: O43525

The protein forms M-channels by associating with KCNQ2 or KCNQ5 to regulate neuronal excitability, with these channels being inhibited by muscarinic acetylcholine receptors and activated by retigabine. Mutations cause benign familial neonatal convulsions type 2 through an autosomal dominant inheritance pattern. The pathogenic mechanism involves gain-of-function mutations that alter normal channel function.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSeizures, benign familial neonatal 2

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels3 gene-disease associations curated in total

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.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

0.36

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — KCNQ3