This page uses content from Wikipedia and is licensed under CC BY-SA.

KCNQ4

KCNQ4
Protein KCNQ4 PDB 2ovc.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKCNQ4, DFNA2, DFNA2A, KV7.4, potassium voltage-gated channel subfamily Q member 4
External IDsOMIM: 603537 MGI: 1926803 HomoloGene: 78107 GeneCards: KCNQ4
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for KCNQ4
Genomic location for KCNQ4
Band1p34.2Start40,783,787 bp[1]
End40,840,452 bp[1]
RNA expression pattern
PBB GE KCNQ4 221083 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004700
NM_172163

NM_001081142

RefSeq (protein)

NP_004691
NP_751895

NP_001074611

Location (UCSC)Chr 1: 40.78 – 40.84 MbChr 4: 120.7 – 120.75 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Potassium voltage-gated channel subfamily KQT member 4 also known as voltage-gated potassium channel subunit Kv7.4 is a protein that in humans is encoded by the KCNQ4 gene.[5][6][7]

Function

The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene.[7]

Clinical significance

The current generated by this channel is inhibited by muscarinic acetylcholine receptor M1 and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene.[7]

Ligands

  • ML213: KCNQ2/Q4 channel opener.[8]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000117013 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028631 - 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. ^ Kubisch C, Schroeder BC, Friedrich T, Lutjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ (Mar 1999). "KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness". Cell. 96 (3): 437–46. doi:10.1016/S0092-8674(00)80556-5. PMID 10025409.
  6. ^ Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stuhmer W, Wang X (Dec 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104.
  7. ^ a b c "Entrez Gene: KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4".
  8. ^ Yu H, Wu M, Townsend SD, et al. (2011). "Discovery, Synthesis, and Structure Activity Relationship of a Series of N-Aryl- bicyclo[2.2.1]heptane-2-carboxamides: Characterization of ML213 as a Novel KCNQ2 and KCNQ4 Potassium Channel Opener". ACS Chem Neurosci. 2 (10): 572–577. doi:10.1021/cn200065b. PMC 3223964. PMID 22125664.

Further reading

External links

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