KCNQ4: Difference between revisions

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Latest revision as of 16:04, 29 June 2018

Potassium voltage-gated channel subfamily KQT member 4 also known as voltage-gated potassium channel subunit K_v7.4 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]

References

↑ 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.
↑ 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.
↑ ^3.0 ^3.1 ^3.2 "Entrez Gene: KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 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.

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.
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. 522 (3): 349–55. doi:10.1111/j.1469-7793.2000.t01-2-00349.x. PMC 2269765. 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. doi:10.1002/1096-8628(20000731)93:3<184::AID-AJMG4>3.0.CO;2-5. 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. doi:10.1016/S0169-328X(00)00204-7. 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. doi:10.1080/003655402/000028059. 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. PMC 1315815. 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". Pflügers 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. PMC 1831682. 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. PMC 3011230. PMID 17329207.
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.

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.

External links

GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview
KCNQ4+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
GeneReviews/NCBI/NIH/UW entry on DFNA2 Nonsyndromic Hearing Loss

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

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[pmid10025409-1] 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.

[pmid16382104-2] 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.

[entrez-3] 3.0 ^3.1 ^3.2 "Entrez Gene: KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4".

[pmid22125664-4] 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.

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[3]

[4]

@@ Line 1: / Line 1: @@
-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{Infobox_gene}}
-{{PBB_Controls
+'''Potassium voltage-gated channel subfamily KQT member 4''' also known as '''voltage-gated potassium channel subunit K<sub>v</sub>7.4''' is a [[protein]] that in humans is encoded by the ''KCNQ4'' [[gene]].<ref name="pmid10025409">{{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  }}</ref><ref name="pmid16382104">{{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 }}</ref><ref name="entrez">{{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 = }}</ref>
-| update_page = yes
-| require_manual_inspection = no
-| update_protein_box = yes
-| update_summary = yes
-| update_citations = yes
-}}
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+== Function==
-{{GNF_Protein_box
- | image = PBB_Protein_KCNQ4_image.jpg
- | image_source = [[Protein_Data_Bank|PDB]] rendering based on 2ovc.
- | PDB = {{PDB2|2ovc}}
- | Name = Potassium voltage-gated channel, KQT-like subfamily, member 4
- | HGNCid = 6298
- | Symbol = KCNQ4
- | AltSymbols =; DFNA2; KV7.4
- | OMIM = 603537
- | ECnumber =
- | Homologene = 78107
- | MGIid = 1926803
- | GeneAtlas_image1 = PBB_GE_KCNQ4_221083_at_tn.png
- | Function = {{GNF_GO|id=GO:0005249 |text = voltage-gated potassium channel activity}} {{GNF_GO|id=GO:0030955 |text = potassium ion binding}}
- | Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0008076 |text = voltage-gated potassium channel complex}} {{GNF_GO|id=GO:0016020 |text = membrane}}
- | Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006813 |text = potassium ion transport}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0042472 |text = inner ear morphogenesis}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 9132
-    | Hs_Ensembl = ENSG00000117013
-    | Hs_RefseqProtein = XP_001132376
-    | Hs_RefseqmRNA = XM_001132376
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 1
-    | Hs_GenLoc_start = 41022271
-    | Hs_GenLoc_end = 41078711
-    | Hs_Uniprot = P56696
-    | Mm_EntrezGene = 60613
-    | Mm_Ensembl = ENSMUSG00000028631
-    | Mm_RefseqmRNA = XM_143960
-    | Mm_RefseqProtein = XP_143960
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 4
-    | Mm_GenLoc_start = 120195532
-    | Mm_GenLoc_end = 120244811
-    | Mm_Uniprot = Q9JK97
-  }}
-}}
-'''Potassium voltage-gated channel, KQT-like subfamily, member 4''', also known as '''KCNQ4''' or '''K<sub>v</sub>7.4''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9132| accessdate = }}</ref>
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+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 [[KvLQT3|KCNQ3]] gene.<ref name="entrez" />
-{{PBB_Summary
-| section_title =
+== Clinical significance ==
-| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9132| accessdate = }}</ref>
-}}
+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 [[sensorineural hearing loss|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.<ref name="entrez" />
+== Ligands ==
+* ML213: KCNQ2/Q4 channel opener.<ref name="pmid22125664">{{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=}}</ref>
 ==See also==
@@ Line 58: / Line 18: @@
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
-{{PBB_Further_reading
+*{{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  }}
-| citations =
+*{{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  | author=Gutman GA, Chandy KG, Grissmer S, ''et al.'' |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 |year= 2006 |pmid= 16382104 |doi= 10.1124/pr.57.4.10 }}
+*{{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  | author=Kubisch C, Schroeder BC, Friedrich T, ''et al.'' |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 |year= 1999 |pmid= 10025409 |doi=  }}
+*{{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  | author=Coucke PJ, Van Hauwe P, Kelley PM, ''et al.'' |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=  }}
+*{{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  | author=Talebizadeh Z, Kelley PM, Askew JW, ''et al.'' |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=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=  }}
-*{{cite journal  | author=Selyanko AA, Hadley JK, Wood IC, ''et al.'' |title=Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors. |journal=J. Physiol. (Lond.) |volume=522 Pt 3 |issue=  |pages= 349-55 |year= 2000 |pmid= 10713961 |doi=  }}
+*{{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  | author=Van Hauwe P, Coucke PJ, Ensink RJ, ''et al.'' |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=  }}
+*{{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  | author=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=  }}
+*{{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  | author=Søgaard R, Ljungstrøm T, Pedersen KA, ''et al.'' |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=  }}
+*{{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  | author=Van Camp G, Coucke PJ, Akita J, ''et al.'' |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=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  | author=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=  }}
+*{{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  | author=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 }}
+*{{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  | author=Li Y, Langlais P, Gamper N, ''et al.'' |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=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  | author=Chambard JM, Ashmore JF |title=Regulation of the voltage-gated potassium channel KCNQ4 in the auditory pathway. |journal=Pflugers Arch. |volume=450 |issue= 1 |pages= 34-44 |year= 2005 |pmid= 15660259 |doi= 10.1007/s00424-004-1366-2 }}
+*{{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  | author=Van Laer L, Carlsson PI, Ottschytsch N, ''et al.'' |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=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  | author=Van Eyken E, Van Laer L, Fransen E, ''et al.'' |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=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 }}
-*{{cite journal  | author=Su CC, Yang JJ, Shieh JC, ''et al.'' |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 }}
+{{refend}}
-*{{cite journal  | author=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 }}
+* {{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}}
-*{{cite journal  | author=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 }}
-}}
 {{refend}}
-== External links ==
+==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]
+{{PDB Gallery|geneid=9132}}
+{{Ion channels|g3}}
-{{membrane-protein-stub}}
 {{NLM content}}
-{{Ligand-gated ion channels}}
 [[Category:Ion channels]]
-{{WikiDoc Sources}}
+{{membrane-protein-stub}}

KCNQ4: Difference between revisions

Latest revision as of 16:04, 29 June 2018

Contents

Function

Clinical significance

Ligands

See also

References

Further reading

External links

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