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词条 KCNQ4
释义

  1. Function

  2. Clinical significance

  3. Ligands

  4. See also

  5. References

  6. Further reading

  7. External links

{{Infobox_gene}}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

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

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

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

See also

  • Voltage-gated potassium channel

References

1. ^{{cite journal |vauthors=Kubisch C, Schroeder BC, Friedrich T, Lutjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ | title = KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness | journal = Cell | volume = 96 | issue = 3 | pages = 437–46 |date=Mar 1999 | pmid = 10025409 | pmc = | doi =10.1016/S0092-8674(00)80556-5 }}
2. ^{{cite journal |vauthors=Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stuhmer W, Wang X | title = International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels | journal = Pharmacol Rev | volume = 57 | issue = 4 | pages = 473–508 |date=Dec 2005 | pmid = 16382104 | pmc = | doi = 10.1124/pr.57.4.10 }}
3. ^1 2 {{cite web | title = Entrez Gene: KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9132| accessdate = }}
4. ^{{cite journal |vauthors=Yu H, Wu M, Townsend SD, etal |title=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 |journal=ACS Chem Neurosci |volume=2 |issue=10 |pages=572–577 |year=2011 |pmid=22125664 |pmc=3223964 |doi=10.1021/cn200065b |url=}}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Coucke PJ, Van Hauwe P, Kelley PM, etal |title=Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families |journal=Hum. Mol. Genet. |volume=8 |issue= 7 |pages= 1321–8 |year= 1999 |pmid= 10369879 |doi=10.1093/hmg/8.7.1321 }}
  • {{cite journal |vauthors=Talebizadeh Z, Kelley PM, Askew JW, etal |title=Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss |journal=Hum. Mutat. |volume=14 |issue= 6 |pages= 493–501 |year= 2000 |pmid= 10571947 |doi= 10.1002/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO;2-P }}
  • {{cite journal |vauthors=Selyanko AA, Hadley JK, Wood IC, etal |title=Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors |journal=J. Physiol. |volume=522 |issue= 3|pages= 349–55 |year= 2000 |pmid= 10713961 |doi=10.1111/j.1469-7793.2000.t01-2-00349.x | pmc=2269765 }}
  • {{cite journal |vauthors=Van Hauwe P, Coucke PJ, Ensink RJ, etal |title=Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region |journal=Am. J. Med. Genet. |volume=93 |issue= 3 |pages= 184–7 |year= 2000 |pmid= 10925378 |doi=10.1002/1096-8628(20000731)93:3<184::AID-AJMG4>3.0.CO;2-5 }}
  • {{cite journal |vauthors=Beisel KW, Nelson NC, Delimont DC, Fritzsch B |title=Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2 |journal=Brain Res. Mol. Brain Res. |volume=82 |issue= 1–2 |pages= 137–49 |year= 2001 |pmid= 11042367 |doi=10.1016/S0169-328X(00)00204-7 }}
  • {{cite journal |vauthors=Søgaard R, Ljungstrøm T, Pedersen KA, etal |title=KCNQ4 channels expressed in mammalian cells: functional characteristics and pharmacology |journal=Am. J. Physiol., Cell Physiol. |volume=280 |issue= 4 |pages= C859–66 |year= 2001 |pmid= 11245603 |doi= 10.1152/ajpcell.2001.280.4.C859}}
  • {{cite journal |vauthors=Van Camp G, Coucke PJ, Akita J, etal |title=A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment |journal=Hum. Mutat. |volume=20 |issue= 1 |pages= 15–9 |year= 2002 |pmid= 12112653 |doi= 10.1002/humu.10096 }}
  • {{cite journal |vauthors=Stern RE, Lalwani AK |title=Audiologic evidence for further genetic heterogeneity at DFNA2 |journal=Acta Otolaryngol. |volume=122 |issue= 7 |pages= 730–5 |year= 2003 |pmid= 12484650 |doi=10.1080/003655402/000028059 }}
  • {{cite journal |vauthors=Schwake M, Jentsch TJ, Friedrich T |title=A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly |journal=EMBO Rep. |volume=4 |issue= 1 |pages= 76–81 |year= 2003 |pmid= 12524525 |doi= 10.1038/sj.embor.embor715 | pmc=1315815 }}
  • {{cite journal |vauthors=Li Y, Langlais P, Gamper N, etal |title=Dual phosphorylations underlie modulation of unitary KCNQ K(+) channels by Src tyrosine kinase |journal=J. Biol. Chem. |volume=279 |issue= 44 |pages= 45399–407 |year= 2004 |pmid= 15304482 |doi= 10.1074/jbc.M408410200 }}
  • {{cite journal |vauthors=Chambard JM, Ashmore JF |title=Regulation of the voltage-gated potassium channel KCNQ4 in the auditory pathway |journal=Pflügers Arch. |volume=450 |issue= 1 |pages= 34–44 |year= 2005 |pmid= 15660259 |doi= 10.1007/s00424-004-1366-2 }}
  • {{cite journal |vauthors=Van Laer L, Carlsson PI, Ottschytsch N, etal |title=The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss |journal=Hum. Mutat. |volume=27 |issue= 8 |pages= 786–95 |year= 2006 |pmid= 16823764 |doi= 10.1002/humu.20360 }}
  • {{cite journal |vauthors=Van Eyken E, Van Laer L, Fransen E, etal |title=KCNQ4: a gene for age-related hearing impairment? |journal=Hum. Mutat. |volume=27 |issue= 10 |pages= 1007–16 |year= 2006 |pmid= 16917933 |doi= 10.1002/humu.20375 }}
  • {{cite journal |vauthors=Su CC, Yang JJ, Shieh JC, etal |title=Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan |journal=Audiol. Neurootol. |volume=12 |issue= 1 |pages= 20–6 |year= 2007 |pmid= 17033161 |doi= 10.1159/000096154 }}
  • {{cite journal |vauthors=Jensen HS, Grunnet M, Olesen SP |title=Inactivation as a New Regulatory Mechanism for Neuronal Kv7 Channels |journal=Biophys. J. |volume=92 |issue= 8 |pages= 2747–56 |year= 2007 |pmid= 17237198 |doi= 10.1529/biophysj.106.101287 | pmc=1831682 }}
  • {{cite journal |vauthors=Howard RJ, Clark KA, Holton JM, Minor DL |title=Structural Insight into KCNQ (Kv7) Channel Assembly and Channelopathy |journal=Neuron |volume=53 |issue= 5 |pages= 663–75 |year= 2007 |pmid= 17329207 |doi= 10.1016/j.neuron.2007.02.010 | pmc=3011230 }}
  • {{cite journal |vauthors=Iannotti FA, Panza E, Barrese V, Viggiano D, Soldovieri MV, Taglialatela M | title = Expression, localization, and pharmacological role of Kv7 potassium channels in skeletal muscle proliferation, differentiation, and survival after myotoxic insults | journal = J. Pharmacol. Exp. Ther. | volume = 332 | issue = 3 | pages = 811–20 |date=March 2010 | pmid = 20040580 | doi = 10.1124/jpet.109.162800 }}
{{refend}}
  • {{cite journal |vauthors=Iannotti FA, Barrese V, Formisano L, Taglialatela M | title = Specification of skeletal muscle differentiation by repressor element-1 silencing transcription factor (REST)-regulated Kv7.4 potassium channels.| journal = Mol Biol Cell| volume = 24 | issue = 3 | pages = 274–84|date=Feb 2013 | pmid = 23242999 | doi = 10.1091/mbc.E11-12-1044 | pmc=3564528}}
{{refend}}

External links

  • [https://www.ncbi.nlm.nih.gov/books/NBK1434/ GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview]
  • {{MeshName|KCNQ4+protein,+human}}
  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dfna2 GeneReviews/NCBI/NIH/UW entry on DFNA2 Nonsyndromic Hearing Loss]
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