Biology:CLCN2
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene.[1][2] Mutations of this gene have been found to cause leukoencephalopathy[3] and Idiopathic generalised epilepsy (Online Mendelian Inheritance in Man (OMIM) 600699),[4] although the latter claim has been disputed.[5]
A gain of function mutation in the CLCN2 gene was found to cause primary aldosteronism,[6] 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.[7]
CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.
See also
References
- ↑ "Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues". Human Molecular Genetics 4 (3): 407–413. March 1995. doi:10.1093/hmg/4.3.407. PMID 7795595.
- ↑ "Entrez Gene: CLCN2 chloride channel 2". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1181.
- ↑ "Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study". The Lancet. Neurology 12 (7): 659–668. July 2013. doi:10.1016/S1474-4422(13)70053-X. PMID 23707145.
- ↑ "Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy". Brain Research Bulletin 79 (2): 89–96. April 2009. doi:10.1016/j.brainresbull.2009.01.008. PMID 19200853.
- ↑ "No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy". Nature Genetics 42 (1): 3. January 2010. doi:10.1038/ng0110-3. PMID 20037607.
- ↑ "A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism" (in en). Nature Genetics 50 (3): 355–361. March 2018. doi:10.1038/s41588-018-0053-8. ISSN 1546-1718. PMID 29403012. https://www.nature.com/articles/s41588-018-0053-8.
- ↑ "Pathogenesis of Familial Hyperaldosteronism Type II: New Concepts Involving Anion Channels" (in en). Current Hypertension Reports 21 (4): 31. April 2019. doi:10.1007/s11906-019-0934-y. ISSN 1522-6417. PMID 30949771. http://link.springer.com/10.1007/s11906-019-0934-y.
Further reading
- "Expression of CLCN voltage-gated chloride channel genes in human blood vessels". Journal of Molecular and Cellular Cardiology 31 (3): 657–666. March 1999. doi:10.1006/jmcc.1998.0901. PMID 10198195.
- "Genome search for susceptibility loci of common idiopathic generalised epilepsies". Human Molecular Genetics 9 (10): 1465–1472. June 2000. doi:10.1093/hmg/9.10.1465. PMID 10888596.
- "Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium". American Journal of Respiratory Cell and Molecular Biology 24 (4): 376–381. April 2001. doi:10.1165/ajrcmb.24.4.4114. PMID 11306429.
- "Distribution of ClC-2 chloride channel in rat and human epithelial tissues". American Journal of Physiology. Cell Physiology 282 (4): C805–C816. April 2002. doi:10.1152/ajpcell.00291.2001. PMID 11880269.
- "Loss of hyperpolarization-activated Cl(-) current in salivary acinar cells from Clcn2 knockout mice". The Journal of Biological Chemistry 277 (26): 23604–23611. June 2002. doi:10.1074/jbc.M202900200. PMID 11976342.
- "Evidence for a functional interaction between the ClC-2 chloride channel and the retrograde motor dynein complex". The Journal of Biological Chemistry 278 (18): 16262–16270. May 2003. doi:10.1074/jbc.M209828200. PMID 12601004.
- "Expression of voltage-gated chloride channels in human glioma cells". The Journal of Neuroscience 23 (13): 5572–5582. July 2003. doi:10.1523/JNEUROSCI.23-13-05572.2003. PMID 12843258.
- "Sites of protein kinase A activation of the human ClC-2 Cl(-) channel". The Journal of Biological Chemistry 279 (21): 21849–21856. May 2004. doi:10.1074/jbc.M312567200. PMID 15010473.
- "Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies". Physiological Genomics 19 (1): 74–83. September 2004. doi:10.1152/physiolgenomics.00070.2004. PMID 15252188.
- "Plasmodium induces swelling-activated ClC-2 anion channels in the host erythrocyte". The Journal of Biological Chemistry 279 (40): 41444–41452. October 2004. doi:10.1074/jbc.M407618200. PMID 15272009.
- "Is the ClC-2 chloride channel involved in the Cl- secretory mechanism of gastric parietal cells?". FEBS Letters 575 (1–3): 105–108. September 2004. doi:10.1016/j.febslet.2004.08.044. PMID 15388342. Bibcode: 2004FEBSL.575..105H.
- "Interferon-gamma regulates ClC-2 chloride channel in lung epithelial cells". Biochemical and Biophysical Research Communications 324 (1): 31–39. November 2004. doi:10.1016/j.bbrc.2004.09.026. PMID 15464978.
- "Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy". Neurology 63 (8): 1500–1502. October 2004. doi:10.1212/01.wnl.0000142093.94998.1a. PMID 15505175.
- "CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity". BMC Medical Genetics 5: 26. October 2004. doi:10.1186/1471-2350-5-26. PMID 15507145.
- "CLCN2 and idiopathic generalized epilepsy". Advances in Neurology 95: 265–271. 2004. PMID 15508929.
- "Association between Hsp90 and the ClC-2 chloride channel upregulates channel function". American Journal of Physiology. Cell Physiology 290 (1): C45–C56. January 2006. doi:10.1152/ajpcell.00209.2005. PMID 16049054.
External links
- CLCN2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- Human CLCN2 genome location and CLCN2 gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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