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KCNQ4

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(Redirected from Kv7.4)
KCNQ4
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; OMA:KCNQ4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

9132

60613

Ensembl

ENSG00000117013

ENSMUSG00000028631

UniProt

P56696

Q9JK97

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: 120.55 – 120.61 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

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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

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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

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

See also

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References

[edit]
  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 10025409.437-46&rft.date=1999-03&rft_id=info:doi/10.1016/S0092-8674(00)80556-5&rft_id=info:pmid/10025409&rft.aulast=Kubisch&rft.aufirst=C&rft.au=Schroeder, BC&rft.au=Friedrich, T&rft.au=Lutjohann, B&rft.au=El-Amraoui, A&rft.au=Marlin, S&rft.au=Petit, C&rft.au=Jentsch, TJ&rft_id=https://doi.org/10.1016%2FS0092-8674%2800%2980556-5&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  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. S2CID 219195192.473-508&rft.date=2005-12&rft_id=https://api.semanticscholar.org/CorpusID:219195192#id-name=S2CID&rft_id=info:pmid/16382104&rft_id=info:doi/10.1124/pr.57.4.10&rft.aulast=Gutman&rft.aufirst=GA&rft.au=Chandy, KG&rft.au=Grissmer, S&rft.au=Lazdunski, M&rft.au=McKinnon, D&rft.au=Pardo, LA&rft.au=Robertson, GA&rft.au=Rudy, B&rft.au=Sanguinetti, MC&rft.au=Stuhmer, W&rft.au=Wang, X&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  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 22125664.572-577&rft.date=2011&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223964#id-name=PMC&rft_id=info:pmid/22125664&rft_id=info:doi/10.1021/cn200065b&rft.aulast=Yu&rft.aufirst=H&rft.au=Wu, M&rft.au=Townsend, SD&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223964&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">

Further reading

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  • 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. doi:10.1093/hmg/8.7.1321. PMID 10369879.1321-8&rft.date=1999&rft_id=info:doi/10.1093/hmg/8.7.1321&rft_id=info:pmid/10369879&rft.aulast=Coucke&rft.aufirst=PJ&rft.au=Van Hauwe, P&rft.au=Kelley, PM&rft_id=https://doi.org/10.1093%2Fhmg%2F8.7.1321&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • 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. S2CID 13288075.493-501&rft.date=2000&rft_id=https://api.semanticscholar.org/CorpusID:13288075#id-name=S2CID&rft_id=info:pmid/10571947&rft_id=info:doi/10.1002/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO;2-P&rft.aulast=Talebizadeh&rft.aufirst=Z&rft.au=Kelley, PM&rft.au=Askew, JW&rft_id=https://doi.org/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • 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. 522 (3): 349–55. doi:10.1111/j.1469-7793.2000.t01-2-00349.x. PMC 2269765. PMID 10713961.349-55&rft.date=2000&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2269765#id-name=PMC&rft_id=info:pmid/10713961&rft_id=info:doi/10.1111/j.1469-7793.2000.t01-2-00349.x&rft.aulast=Selyanko&rft.aufirst=AA&rft.au=Hadley, JK&rft.au=Wood, IC&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2269765&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • 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. doi:10.1002/1096-8628(20000731)93:3<184::AID-AJMG4>3.0.CO;2-5. PMID 10925378.184-7&rft.date=2000&rft_id=info:doi/10.1002/1096-8628(20000731)93:3<184::AID-AJMG4>3.0.CO;2-5&rft_id=info:pmid/10925378&rft.aulast=Van Hauwe&rft.aufirst=P&rft.au=Coucke, PJ&rft.au=Ensink, RJ&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • 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. doi:10.1016/S0169-328X(00)00204-7. PMID 11042367.1–2&rft.pages=137-49&rft.date=2001&rft_id=info:doi/10.1016/S0169-328X(00)00204-7&rft_id=info:pmid/11042367&rft.aulast=Beisel&rft.aufirst=KW&rft.au=Nelson, NC&rft.au=Delimont, DC&rft.au=Fritzsch, B&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • 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. doi:10.1152/ajpcell.2001.280.4.C859. PMID 11245603. S2CID 7891527.
  • 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. S2CID 22495155.15-9&rft.date=2002&rft_id=https://api.semanticscholar.org/CorpusID:22495155#id-name=S2CID&rft_id=info:pmid/12112653&rft_id=info:doi/10.1002/humu.10096&rft.aulast=Van Camp&rft.aufirst=G&rft.au=Coucke, PJ&rft.au=Akita, J&rft_id=https://doi.org/10.1002%2Fhumu.10096&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • Stern RE, Lalwani AK (2003). "Audiologic evidence for further genetic heterogeneity at DFNA2". Acta Otolaryngol. 122 (7): 730–5. doi:10.1080/003655402/000028059. PMID 12484650.730-5&rft.date=2003&rft_id=info:doi/10.1080/003655402/000028059&rft_id=info:pmid/12484650&rft.aulast=Stern&rft.aufirst=RE&rft.au=Lalwani, AK&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • 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. PMC 1315815. PMID 12524525.76-81&rft.date=2003&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1315815#id-name=PMC&rft_id=info:pmid/12524525&rft_id=info:doi/10.1038/sj.embor.embor715&rft.aulast=Schwake&rft.aufirst=M&rft.au=Jentsch, TJ&rft.au=Friedrich, T&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1315815&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • 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 15304482.45399-407&rft.date=2004&rft_id=info:doi/10.1074/jbc.M408410200&rft_id=info:pmid/15304482&rft.aulast=Li&rft.aufirst=Y&rft.au=Langlais, P&rft.au=Gamper, N&rft_id=https://doi.org/10.1074%2Fjbc.M408410200&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • Chambard JM, Ashmore JF (2005). "Regulation of the voltage-gated potassium channel KCNQ4 in the auditory pathway". Pflügers Arch. 450 (1): 34–44. doi:10.1007/s00424-004-1366-2. PMID 15660259. S2CID 21570482.34-44&rft.date=2005&rft_id=https://api.semanticscholar.org/CorpusID:21570482#id-name=S2CID&rft_id=info:pmid/15660259&rft_id=info:doi/10.1007/s00424-004-1366-2&rft.aulast=Chambard&rft.aufirst=JM&rft.au=Ashmore, JF&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • 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. S2CID 25357017.786-95&rft.date=2006&rft_id=https://api.semanticscholar.org/CorpusID:25357017#id-name=S2CID&rft_id=info:pmid/16823764&rft_id=info:doi/10.1002/humu.20360&rft.aulast=Van Laer&rft.aufirst=L&rft.au=Carlsson, PI&rft.au=Ottschytsch, N&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • 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. S2CID 8912727.1007-16&rft.date=2006&rft_id=https://api.semanticscholar.org/CorpusID:8912727#id-name=S2CID&rft_id=info:pmid/16917933&rft_id=info:doi/10.1002/humu.20375&rft.aulast=Van Eyken&rft.aufirst=E&rft.au=Van Laer, L&rft.au=Fransen, E&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • 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. S2CID 25256223.20-6&rft.date=2007&rft_id=https://api.semanticscholar.org/CorpusID:25256223#id-name=S2CID&rft_id=info:pmid/17033161&rft_id=info:doi/10.1159/000096154&rft.aulast=Su&rft.aufirst=CC&rft.au=Yang, JJ&rft.au=Shieh, JC&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • Jensen HS, Grunnet M, Olesen SP (2007). "Inactivation as a New Regulatory Mechanism for Neuronal Kv7 Channels". Biophys. J. 92 (8): 2747–56. Bibcode:2007BpJ....92.2747J. doi:10.1529/biophysj.106.101287. PMC 1831682. PMID 17237198.2747-56&rft.date=2007&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1831682#id-name=PMC&rft_id=info:pmid/17237198&rft_id=info:doi/10.1529/biophysj.106.101287&rft_id=info:bibcode/2007BpJ....92.2747J&rft.aulast=Jensen&rft.aufirst=HS&rft.au=Grunnet, M&rft.au=Olesen, SP&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1831682&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • 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. PMC 3011230. PMID 17329207.663-75&rft.date=2007&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3011230#id-name=PMC&rft_id=info:pmid/17329207&rft_id=info:doi/10.1016/j.neuron.2007.02.010&rft.aulast=Howard&rft.aufirst=RJ&rft.au=Clark, KA&rft.au=Holton, JM&rft.au=Minor, DL&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3011230&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • Iannotti FA, Panza E, Barrese V, Viggiano D, Soldovieri MV, Taglialatela M (March 2010). "Expression, localization, and pharmacological role of Kv7 potassium channels in skeletal muscle proliferation, differentiation, and survival after myotoxic insults". J. Pharmacol. Exp. Ther. 332 (3): 811–20. doi:10.1124/jpet.109.162800. PMID 20040580. S2CID 17248733.811-20&rft.date=2010-03&rft_id=https://api.semanticscholar.org/CorpusID:17248733#id-name=S2CID&rft_id=info:pmid/20040580&rft_id=info:doi/10.1124/jpet.109.162800&rft.aulast=Iannotti&rft.aufirst=FA&rft.au=Panza, E&rft.au=Barrese, V&rft.au=Viggiano, D&rft.au=Soldovieri, MV&rft.au=Taglialatela, M&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
  • 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. PMC 3564528. PMID 23242999.274-84&rft.date=2013-02&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564528#id-name=PMC&rft_id=info:pmid/23242999&rft_id=info:doi/10.1091/mbc.E11-12-1044&rft.aulast=Iannotti&rft.aufirst=FA&rft.au=Barrese, V&rft.au=Formisano, L&rft.au=Taglialatela, M&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564528&rfr_id=info:sid/en.wikipedia.org:KCNQ4" class="Z3988">
[edit]

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


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