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CLCN2

{{Short description|Protein-coding gene in the species Homo sapiens}}

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Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene.{{cite journal | vauthors = Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR | title = Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues | journal = Human Molecular Genetics | volume = 4 | issue = 3 | pages = 407–413 | date = March 1995 | pmid = 7795595 | doi = 10.1093/hmg/4.3.407 }}{{cite web | title = Entrez Gene: CLCN2 chloride channel 2 | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1181 }} Mutations of this gene have been found to cause leukoencephalopathy{{cite journal | vauthors = Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS | title = Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study | journal = The Lancet. Neurology | volume = 12 | issue = 7 | pages = 659–668 | date = July 2013 | pmid = 23707145 | doi = 10.1016/S1474-4422(13)70053-X | hdl-access = free | hdl = 11858/00-001M-0000-0018-F3BD-9 | s2cid = 16634353 }} and Idiopathic generalised epilepsy ({{OMIM|600699||short}}),{{cite journal | vauthors = Combi R, Grioni D, Contri M, Redaelli S, Redaelli F, Bassi MT, Barisani D, Lavitrano ML, Tredici G, Tenchini ML, Bertolini M, Dalprà L | title = Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy | journal = Brain Research Bulletin | volume = 79 | issue = 2 | pages = 89–96 | date = April 2009 | pmid = 19200853 | doi = 10.1016/j.brainresbull.2009.01.008 | s2cid = 3036929 }} although the latter claim has been disputed.{{cite journal | vauthors = Niemeyer MI, Cid LP, Sepúlveda FV, Blanz J, Auberson M, Jentsch TJ | title = No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy | journal = Nature Genetics | volume = 42 | issue = 1 | pages = 3 | date = January 2010 | pmid = 20037607 | doi = 10.1038/ng0110-3 | doi-access = free }}

A gain of function mutation in the CLCN2 gene was found to cause primary aldosteronism,{{Cite journal | vauthors = Fernandes-Rosa FL, Daniil G, Orozco IJ, Goppner C, Zein R, Jain V, Boulkroun S, Jeunemaitre X, Amar L, Lefebvre H, Schwarzmayr T, Strom TM, Jentsch TJ, Zennaro MC | title = A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism | journal = Nature Genetics | volume = 50 | issue = 3 | pages = 355–361 | date = March 2018 | pmid = 29403012 | doi = 10.1038/s41588-018-0053-8 | url = https://www.nature.com/articles/s41588-018-0053-8 | language = en | issn = 1546-1718 }} a form of arterial hypertension due to excessive production of aldosterone by the neuroendocrine cells of the zona glomerulosa of the adrenal gland. The mutation was found to cause a chloride leak in these cells and increased the expression of aldosterone synthase.{{Cite journal | vauthors = Stowasser M, Wolley M, Wu A, Gordon RD, Schewe J, Stolting G, Scholl UI | title = Pathogenesis of Familial Hyperaldosteronism Type II: New Concepts Involving Anion Channels | journal = Current Hypertension Reports | volume = 21 | issue = 4 | pages = 31 | date = April 2019 | pmid = 30949771 | doi = 10.1007/s11906-019-0934-y | url = http://link.springer.com/10.1007/s11906-019-0934-y | language = en | issn = 1522-6417 | url-access = subscription }}

CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.

See also

References

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Further reading

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  • {{cite journal | vauthors = Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC | title = Expression of CLCN voltage-gated chloride channel genes in human blood vessels | journal = Journal of Molecular and Cellular Cardiology | volume = 31 | issue = 3 | pages = 657–666 | date = March 1999 | pmid = 10198195 | doi = 10.1006/jmcc.1998.0901 }}
  • {{cite journal | vauthors = Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A, Zara F, Luna D, Bulteau C, Kaminska A, Ville D, Cieuta C, Picard F, Prud'homme JF, Bate L, Sundquist A, Gardiner RM, Janssen GA, de Haan GJ, Kasteleijn-Nolst-Trenité DG, Bader A, Lindhout D, Riess O, Wienker TF, Janz D, Reis A | title = Genome search for susceptibility loci of common idiopathic generalised epilepsies | journal = Human Molecular Genetics | volume = 9 | issue = 10 | pages = 1465–1472 | date = June 2000 | pmid = 10888596 | doi = 10.1093/hmg/9.10.1465 | doi-access = free }}
  • {{cite journal | vauthors = Lamb FS, Graeff RW, Clayton GH, Smith RL, Schutte BC, McCray PB | title = Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium | journal = American Journal of Respiratory Cell and Molecular Biology | volume = 24 | issue = 4 | pages = 376–381 | date = April 2001 | pmid = 11306429 | doi = 10.1165/ajrcmb.24.4.4114 | doi-access = free }}
  • {{cite journal | vauthors = Lipecka J, Bali M, Thomas A, Fanen P, Edelman A, Fritsch J | title = Distribution of ClC-2 chloride channel in rat and human epithelial tissues | journal = American Journal of Physiology. Cell Physiology | volume = 282 | issue = 4 | pages = C805–C816 | date = April 2002 | pmid = 11880269 | doi = 10.1152/ajpcell.00291.2001 }}
  • {{cite journal | vauthors = Nehrke K, Arreola J, Nguyen HV, Pilato J, Richardson L, Okunade G, Baggs R, Shull GE, Melvin JE | title = Loss of hyperpolarization-activated Cl(-) current in salivary acinar cells from Clcn2 knockout mice | journal = The Journal of Biological Chemistry | volume = 277 | issue = 26 | pages = 23604–23611 | date = June 2002 | pmid = 11976342 | doi = 10.1074/jbc.M202900200 | doi-access = free }}
  • {{cite journal | vauthors = Dhani SU, Mohammad-Panah R, Ahmed N, Ackerley C, Ramjeesingh M, Bear CE | title = Evidence for a functional interaction between the ClC-2 chloride channel and the retrograde motor dynein complex | journal = The Journal of Biological Chemistry | volume = 278 | issue = 18 | pages = 16262–16270 | date = May 2003 | pmid = 12601004 | doi = 10.1074/jbc.M209828200 | doi-access = free }}
  • {{cite journal | vauthors = Olsen ML, Schade S, Lyons SA, Amaral MD, Sontheimer H | title = Expression of voltage-gated chloride channels in human glioma cells | journal = The Journal of Neuroscience | volume = 23 | issue = 13 | pages = 5572–5582 | date = July 2003 | pmid = 12843258 | pmc = 6741216 | doi = 10.1523/JNEUROSCI.23-13-05572.2003 }}
  • {{cite journal | vauthors = Cuppoletti J, Tewari KP, Sherry AM, Ferrante CJ, Malinowska DH | title = Sites of protein kinase A activation of the human ClC-2 Cl(-) channel | journal = The Journal of Biological Chemistry | volume = 279 | issue = 21 | pages = 21849–21856 | date = May 2004 | pmid = 15010473 | doi = 10.1074/jbc.M312567200 | doi-access = free }}
  • {{cite journal | vauthors = Niemeyer MI, Yusef YR, Cornejo I, Flores CA, Sepúlveda FV, Cid LP | title = Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies | journal = Physiological Genomics | volume = 19 | issue = 1 | pages = 74–83 | date = September 2004 | pmid = 15252188 | doi = 10.1152/physiolgenomics.00070.2004 | hdl = 10533/175595 | hdl-access = free }}
  • {{cite journal | vauthors = Huber SM, Duranton C, Henke G, Van De Sand C, Heussler V, Shumilina E, Sandu CD, Tanneur V, Brand V, Kasinathan RS, Lang KS, Kremsner PG, Hübner CA, Rust MB, Dedek K, Jentsch TJ, Lang F | title = Plasmodium induces swelling-activated ClC-2 anion channels in the host erythrocyte | journal = The Journal of Biological Chemistry | volume = 279 | issue = 40 | pages = 41444–41452 | date = October 2004 | pmid = 15272009 | doi = 10.1074/jbc.M407618200 | doi-access = free }}
  • {{cite journal | vauthors = Hori K, Takahashi Y, Horikawa N, Furukawa T, Tsukada K, Takeguchi N, Sakai H | title = Is the ClC-2 chloride channel involved in the Cl- secretory mechanism of gastric parietal cells? | journal = FEBS Letters | volume = 575 | issue = 1–3 | pages = 105–108 | date = September 2004 | pmid = 15388342 | doi = 10.1016/j.febslet.2004.08.044 | s2cid = 13755479 | doi-access = free | bibcode = 2004FEBSL.575..105H }}
  • {{cite journal | vauthors = Chu S, Blaisdell CJ, Bamford P, Ferro TJ | title = Interferon-gamma regulates ClC-2 chloride channel in lung epithelial cells | journal = Biochemical and Biophysical Research Communications | volume = 324 | issue = 1 | pages = 31–39 | date = November 2004 | pmid = 15464978 | doi = 10.1016/j.bbrc.2004.09.026 }}
  • {{cite journal | vauthors = D'Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, Gambardella A, St Hilaire JM, Kwiecinski H, Andermann E, Pandolfo M | title = Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy | journal = Neurology | volume = 63 | issue = 8 | pages = 1500–1502 | date = October 2004 | pmid = 15505175 | doi = 10.1212/01.wnl.0000142093.94998.1a | s2cid = 46730230 }}
  • {{cite journal | vauthors = Blaisdell CJ, Howard TD, Stern A, Bamford P, Bleecker ER, Stine OC | title = CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity | journal = BMC Medical Genetics | volume = 5 | pages = 26 | date = October 2004 | pmid = 15507145 | pmc = 526769 | doi = 10.1186/1471-2350-5-26 | doi-access = free }}
  • {{cite journal | vauthors = Heils A | title = CLCN2 and idiopathic generalized epilepsy | journal = Advances in Neurology | volume = 95 | pages = 265–271 | year = 2004 | pmid = 15508929 }}
  • {{cite journal | vauthors = Hinzpeter A, Lipecka J, Brouillard F, Baudoin-Legros M, Dadlez M, Edelman A, Fritsch J | title = Association between Hsp90 and the ClC-2 chloride channel upregulates channel function | journal = American Journal of Physiology. Cell Physiology | volume = 290 | issue = 1 | pages = C45–C56 | date = January 2006 | pmid = 16049054 | doi = 10.1152/ajpcell.00209.2005 | citeseerx = 10.1.1.533.5601 | s2cid = 8655480 }}

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External links

  • {{MeshName|CLCN2+protein,+human}}
  • {{UCSC gene info|CLCN2}}

{{NLM content}}

{{Ion channels|g4|date=Mar 1995|vauthors=Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR}}

Category:Ion channels