KCNQ2
Identifiers
AliasesKCNQ2, BFNC, BFNS1, EBN, EBN1, EIEE7, ENB1, HNSPC, KCNA11, KV7.2, KVEBN1, potassium voltage-gated channel subfamily Q member 2, DEE7
External IDsOMIM: 602235 MGI: 1309503 HomoloGene: 26174 GeneCards: KCNQ2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 20: 63.4 – 63.47 MbChr 2: 181.08 – 181.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

Ligands

ICA-069673
ICA-069673
Compound #40 (Amato 2011)
Compound #40 (Amato 2011)

References

  1. ^ a b c ENSG00000281151 GRCh38: Ensembl release 89: ENSG00000075043, ENSG00000281151 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000016346 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: KCNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2".
  6. ^ Amato G (2011). "N -Pyridyl and Pyrimidine Benzamides as KCNQ2/Q3 Potassium Channel Openers for the Treatment of Epilepsy". ACS Medicinal Chemistry Letters. 2 (6): 481–484. doi:10.1021/ml200053x. PMC 4018159. PMID 24900334.
  7. ^ Cheung YY, Yu H, Xu K, Zou B, Wu M, McManus OB, Li M, Lindsley CW, Hopkins CR (August 2012). "Discovery of a series of 2-phenyl-N-(2-(pyrrolidin-1-yl)phenyl)acetamides as novel molecular switches that modulate modes of K(v)7.2 (KCNQ2) channel pharmacology: identification of (S)-2-phenyl-N-(2-(pyrrolidin-1-yl)phenyl)butanamide (ML252) as a potent, brain penetrant K(v)7.2 channel inhibitor". Journal of Medicinal Chemistry. 55 (15): 6975–9. doi:10.1021/jm300700v. PMC 3530927. PMID 22793372.

Further reading

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