KCNQ4

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Potassium voltage-gated channel, KQT-like subfamily, member 4
Protein KCNQ4 PDB 2ovc.png
PDB rendering based on 2ovc.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols KCNQ4 ; DFNA2; DFNA2A; KV7.4
External IDs OMIM603537 MGI1926803 HomoloGene78107 IUPHAR: Kv7.4 ChEMBL: 3576 GeneCards: KCNQ4 Gene
RNA expression pattern
PBB GE KCNQ4 221083 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9132 60613
Ensembl ENSG00000117013 ENSMUSG00000028631
UniProt P56696 Q9JK97
RefSeq (mRNA) NM_004700 NM_001081142
RefSeq (protein) NP_004691 NP_001074611
Location (UCSC) Chr 1:
41.25 – 41.31 Mb
Chr 4:
120.7 – 120.75 Mb
PubMed search [1] [2]

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.[1][2][3]

Function[edit]

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.[3]

Clinical significance[edit]

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.[3]

Ligands[edit]

  • ML213: KCNQ2/Q4 channel opener.[4]

See also[edit]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b c "Entrez Gene: KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4". 
  4. ^ 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[edit]

  • Iannotti FA, Barrese V, Formisano L, Taglialatela M (Feb 2013). "Specification of skeletal muscle differentiation by repressor element-1 silencing transcription factor (REST)-regulated Kv7.4 potassium channels.". Mol Biol Cell. 24 (3): 274–84. doi:10.1091/mbc.E11-12-1044. PMID 23242999. 

External links[edit]

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