KCNQ4

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Potassium voltage-gated channel, KQT-like subfamily, member 4
PDB rendering based on 2ovc.
Available structures: 2ovc
Identifiers
Symbol(s) KCNQ4; DFNA2; KV7.4
External IDs OMIM: 603537 MGI: 1926803 HomoloGene: 78107
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 9132 60613
Ensembl ENSG00000117013 ENSMUSG00000028631
Uniprot P56696 Q9JK97
Refseq XM_001132376 (mRNA)
XP_001132376 (protein)		 XM_143960 (mRNA)
XP_143960 (protein)
Location Chr 1: 41.02 - 41.08 Mb Chr 4: 120.2 - 120.24 Mb
Pubmed search [1] [2]

Potassium voltage-gated channel, KQT-like subfamily, member 4, also known as KCNQ4 or Kv7.4, is a human gene.[1]

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 current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. 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.[1]

Contents

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4.

[edit] Further reading

  • Gutman GA, Chandy KG, Grissmer S, et al. (2006). "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. 
  • Kubisch C, Schroeder BC, Friedrich T, et al. (1999). "KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.". Cell 96 (3): 437–46. PMID 10025409. 
  • Coucke PJ, Van Hauwe P, Kelley PM, et al. (1999). "Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.". Hum. Mol. Genet. 8 (7): 1321–8. PMID 10369879. 
  • Talebizadeh Z, Kelley PM, Askew JW, et al. (2000). "Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.". Hum. Mutat. 14 (6): 493–501. doi:10.1002/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO;2-P. PMID 10571947. 
  • Selyanko AA, Hadley JK, Wood IC, et al. (2000). "Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors.". J. Physiol. (Lond.) 522 Pt 3: 349–55. PMID 10713961. 
  • Van Hauwe P, Coucke PJ, Ensink RJ, et al. (2000). "Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.". Am. J. Med. Genet. 93 (3): 184–7. PMID 10925378. 
  • Beisel KW, Nelson NC, Delimont DC, Fritzsch B (2001). "Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2.". Brain Res. Mol. Brain Res. 82 (1-2): 137–49. PMID 11042367. 
  • Søgaard R, Ljungstrøm T, Pedersen KA, et al. (2001). "KCNQ4 channels expressed in mammalian cells: functional characteristics and pharmacology.". Am. J. Physiol., Cell Physiol. 280 (4): C859–66. PMID 11245603. 
  • Van Camp G, Coucke PJ, Akita J, et al. (2002). "A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.". Hum. Mutat. 20 (1): 15–9. doi:10.1002/humu.10096. PMID 12112653. 
  • Stern RE, Lalwani AK (2003). "Audiologic evidence for further genetic heterogeneity at DFNA2.". Acta Otolaryngol. 122 (7): 730–5. PMID 12484650. 
  • Schwake M, Jentsch TJ, Friedrich T (2003). "A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly.". EMBO Rep. 4 (1): 76–81. doi:10.1038/sj.embor.embor715. PMID 12524525. 
  • Li Y, Langlais P, Gamper N, et al. (2004). "Dual phosphorylations underlie modulation of unitary KCNQ K(+) channels by Src tyrosine kinase.". J. Biol. Chem. 279 (44): 45399–407. doi:10.1074/jbc.M408410200. PMID 15304482. 
  • Chambard JM, Ashmore JF (2005). "Regulation of the voltage-gated potassium channel KCNQ4 in the auditory pathway.". Pflugers Arch. 450 (1): 34–44. doi:10.1007/s00424-004-1366-2. PMID 15660259. 
  • Van Laer L, Carlsson PI, Ottschytsch N, et al. (2006). "The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss.". Hum. Mutat. 27 (8): 786–95. doi:10.1002/humu.20360. PMID 16823764. 
  • Van Eyken E, Van Laer L, Fransen E, et al. (2006). "KCNQ4: a gene for age-related hearing impairment?". Hum. Mutat. 27 (10): 1007–16. doi:10.1002/humu.20375. PMID 16917933. 
  • Su CC, Yang JJ, Shieh JC, et al. (2007). "Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.". Audiol. Neurootol. 12 (1): 20–6. doi:10.1159/000096154. PMID 17033161. 
  • Jensen HS, Grunnet M, Olesen SP (2007). "Inactivation as a new regulatory mechanism for neuronal Kv7 channels.". Biophys. J. 92 (8): 2747–56. doi:10.1529/biophysj.106.101287. PMID 17237198. 
  • Howard RJ, Clark KA, Holton JM, Minor DL (2007). "Structural insight into KCNQ (Kv7) channel assembly and channelopathy.". Neuron 53 (5): 663–75. doi:10.1016/j.neuron.2007.02.010. PMID 17329207. 

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