Entrez gene ID | | 3785 |
Official gene symbol | | KCNQ2 |
Full name | | potassium voltage-gated channel, KQT-like subfamily, member 2 |
Aliases | | ,BFNC,EBN,EBN1,ENB1,HNSPC,KCNA11,KV7.2,KVEBN1, |
Gene summary | | 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] |
Location | | Chromosome: 20 Locus: 20q13.3 |
Gene position | | 62103993 - 62037542 Map Viewer |
Gene orientation | | minus |
Gene size | | 66452 bp |
Gene sequence |
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OMIM ID | | 602235 |
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