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KvLQT2
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KvLQT2

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KCNQ2
Kcnq2.png
Identifiers
Aliases KCNQ2, BFNC, BFNS1, EBN, EBN1, EIEE7, ENB1, HNSPC, KCNA11, KV7.2, KVEBN1, potassium voltage-gated channel subfamily Q member 2, DEE7
External IDs OMIM: 602235 MGI: 1309503 HomoloGene: 26174 GeneCards: KCNQ2
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC) Chr 20: 63.4 – 63.47 Mb Chr 2: 180.72 – 180.78 Mb
PubMed search
Wikidata
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Kv7.2 (KvLQT2) is a voltage- and lipid-gated potassium channel protein coded for by the gene KCNQ2.

It is associated with benign familial neonatal epilepsy.

Function

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.

Ligands

ICA-069673
Compound #40 (Amato 2011)
  • ICA-069673: channel opener at KCNQ2/Q3, 20-fold selective over KCNQ3/Q5, no measurable activity against a panel of cardiac ion channels (hERG, Nav1.5, L type channels, and KCNQ1) and no activity on GABAA gated channels at 10 μM. A range of related benzamides exhibited activity, of which compound number 40 is shown here.
  • ML252: channel inhibitor, IC50 = 70nM.
  • Phosphatidylinositol 4,5-bisphosphate (PIP2)

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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