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KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2

Also known as: EBN; BFNC; EBN1; ENB1; BFNS1; EIEE7; HNSPC; KV7.2; KCNA11; KVEBN1


The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Copy number response

Copy number response

No evidence available (Last evaluated (2013-07-18)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-07-18)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 20; NC_000020.11 (63400208..63472640, complement)
Total number of exons:


  • BioSystems
  • ClinVar
    Related medical variations
  • dbVar
    Link from Gene to dbVar
  • KCNQ2 database
  • MedGen
    Related information in MedGen
  • OMIM
    Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
  • PubMed (OMIM)
    Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
  • RefSeq RNAs
    Link to Nucleotide RefSeq RNAs
  • RefSeqGene
    Link to Nucleotide RefSeqGenes
  • SNP: GeneView
    SNPs linked from GeneView

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