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KvLQT2

KCNQ2
Identifiers
AliasesKCNQ2, BFNC, BFNS1, EBN, EBN1, EIEE7, ENB1, HNSPC, KCNA11, KV7.2, KVEBN1, potassium voltage-gated channel subfamily Q member 2
External IDsOMIM: 602235 MGI: 1309503 HomoloGene: 26174 GeneCards: KCNQ2
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for KCNQ2
Genomic location for KCNQ2
Band20q13.33Start63,400,210 bp[1]
End63,472,677 bp[1]
RNA expression pattern
PBB GE KCNQ2 211486 s at fs.png

PBB GE KCNQ2 210508 s at fs.png

PBB GE KCNQ2 205737 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004518
NM_172106
NM_172107
NM_172108
NM_172109

RefSeq (protein)

NP_004509
NP_742104
NP_742105
NP_742106
NP_742107

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 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
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.[6]
  • ML252: channel inhibitor, IC50 = 70nM.[7]

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, JMC Lett 2011, 481, doi:10.1021/ml200053x
  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

External links

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