CLCN2

CLCN2
Identifiers
Aliases	CLCN2, CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, LKPAT, clC-2, chloride voltage-gated channel 2, HALD2
External IDs	OMIM: 600570 MGI: 105061 HomoloGene: 3213 GeneCards: CLCN2
Gene location (Human)
Chr.	Chromosome 3 (human)[1]
End	184,361,650 bp[1]
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)[2]
End	20,717,746 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• voltage-gated ion channel activity; • chloride channel activity; • voltage-gated chloride channel activity; • GO:0001948 protein binding;
Cellular component	• integral component of membrane; • cell membrane; • membrane; • chloride channel complex; • integral component of plasma membrane;
Biological process	• cell differentiation involved in salivary gland development; • ion transmembrane transport; • chloride transport; • regulation of ion transmembrane transport; • ion transport; • retina development in camera-type eye; • transmembrane transport; • chloride transmembrane transport; • regulation of aldosterone biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	1181
	12724
	ENSG00000114859
	ENSMUSG00000022843
	P51788
	Q9R0A1
	NM_001171087; NM_001171088; NM_001171089; NM_004366
	NM_009900
	NP_001164558; NP_001164559; NP_001164560; NP_004357
	NP_034030
	Wikidata
View/Edit Human	View/Edit Mouse

Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene.[5][6] Mutations of this gene have been found to cause leukoencephalopathy (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 (2013). "Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study". Lancet Neurol. 12: 659–68. doi:10.1016/S1474-4422(13)70053-X. hdl:11858/00-001M-0000-0018-F3BD-9. PMID 23707145.CS1 maint: multiple names: authors list (link)) and Idiopathic generalised epilepsy (OMIM: 600699).[7][8] CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.

References

GRCh38: Ensembl release 89: ENSG00000114859 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000022843 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR (Aug 1995). "Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues". Hum Mol Genet. 4 (3): 407–413. doi:10.1093/hmg/4.3.407. PMID 7795595.
"Entrez Gene: CLCN2 chloride channel 2".
Haug K, Warnstedt M, Alekov AK, et al. (2003). "Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies". Nat. Genet. 33 (4): 527–532. doi:10.1038/ng1121. PMID 12612585. (Retracted)
Combi R, Grioni D, Contri M, et al. (April 2009). "Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy". Brain Res. Bull. 79 (2): 89–96. doi:10.1016/j.brainresbull.2009.01.008. PMID 19200853.

Lamb FS, Clayton GH, Liu BX, et al. (1999). "Expression of CLCN voltage-gated chloride channel genes in human blood vessels". J. Mol. Cell. Cardiol. 31 (3): 657–666. doi:10.1006/jmcc.1998.0901. PMID 10198195.
Sander T, Schulz H, Saar K, et al. (2000). "Genome search for susceptibility loci of common idiopathic generalised epilepsies". Hum. Mol. Genet. 9 (10): 1465–1472. doi:10.1093/hmg/9.10.1465. PMID 10888596.
Lamb FS, Graeff RW, Clayton GH, et al. (2001). "Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium". Am. J. Respir. Cell Mol. Biol. 24 (4): 376–81. doi:10.1165/ajrcmb.24.4.4114. PMID 11306429.
Lipecka J, Bali M, Thomas A, et al. (2002). "Distribution of ClC-2 chloride channel in rat and human epithelial tissues". Am. J. Physiol., Cell Physiol. 282 (4): C805–16. doi:10.1152/ajpcell.00291.2001. PMID 11880269.
Nehrke K, Arreola J, Nguyen HV, et al. (2002). "Loss of hyperpolarization-activated Cl⁻ current in salivary acinar cells from Clcn2 knockout mice". J. Biol. Chem. 277 (26): 23604–23611. doi:10.1074/jbc.M202900200. PMID 11976342.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Dhani SU, Mohammad-Panah R, Ahmed N, et al. (2003). "Evidence for a functional interaction between the ClC-2 chloride channel and the retrograde motor dynein complex". J. Biol. Chem. 278 (18): 16262–16270. doi:10.1074/jbc.M209828200. PMID 12601004.
Olsen ML, Schade S, Lyons SA, et al. (2003). "Expression of voltage-gated chloride channels in human glioma cells". J. Neurosci. 23 (13): 5572–82. doi:10.1523/JNEUROSCI.23-13-05572.2003. PMC 6741216. PMID 12843258.
Cuppoletti J, Tewari KP, Sherry AM, et al. (2004). "Sites of protein kinase A activation of the human ClC-2 Cl(-) channel". J. Biol. Chem. 279 (21): 21849–21856. doi:10.1074/jbc.M312567200. PMID 15010473.
Niemeyer MI, Yusef YR, Cornejo I, et al. (2005). "Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies". Physiol. Genomics. 19 (1): 74–83. doi:10.1152/physiolgenomics.00070.2004. PMID 15252188.
Huber SM, Duranton C, Henke G, et al. (2004). "Plasmodium induces swelling-activated ClC-2 anion channels in the host erythrocyte". J. Biol. Chem. 279 (40): 41444–41452. doi:10.1074/jbc.M407618200. PMID 15272009.
Hori K, Takahashi Y, Horikawa N, et al. (2004). "Is the ClC-2 chloride channel involved in the Cl⁻ secretory mechanism of gastric parietal cells?". FEBS Lett. 575 (1–3): 105–108. doi:10.1016/j.febslet.2004.08.044. PMID 15388342.
Chu S, Blaisdell CJ, Bamford P, Ferro TJ (2004). "Interferon-gamma regulates ClC-2 chloride channel in lung epithelial cells". Biochem. Biophys. Res. Commun. 324 (1): 31–39. doi:10.1016/j.bbrc.2004.09.026. PMID 15464978.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
D'Agostino D, Bertelli M, Gallo S, et al. (2006). "Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy". Neurology. 63 (8): 1500–2. doi:10.1212/01.wnl.0000142093.94998.1a. PMID 15505175.
Blaisdell CJ, Howard TD, Stern A, et al. (2004). "CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity". BMC Med. Genet. 5: 26. doi:10.1186/1471-2350-5-26. PMC 526769. PMID 15507145.
Heils A (2004). "CLCN2 and idiopathic generalized epilepsy". Advances in Neurology. 95: 265–71. PMID 15508929.
Hinzpeter A, Lipecka J, Brouillard F, et al. (2006). "Association between Hsp90 and the ClC-2 chloride channel upregulates channel function". Am. J. Physiol., Cell Physiol. 290 (1): C45–C56. CiteSeerX 10.1.1.533.5601. 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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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000114859 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022843 - 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.

[pmid7795595-5] Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR (Aug 1995). "Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues". Hum Mol Genet. 4 (3): 407–413. doi:10.1093/hmg/4.3.407. PMID 7795595.

[entrez-6] "Entrez Gene: CLCN2 chloride channel 2".

[7] Haug K, Warnstedt M, Alekov AK, et al. (2003). "Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies". Nat. Genet. 33 (4): 527–532. doi:10.1038/ng1121. PMID 12612585. (Retracted)

[pmid19200853-8] Combi R, Grioni D, Contri M, et al. (April 2009). "Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy". Brain Res. Bull. 79 (2): 89–96. doi:10.1016/j.brainresbull.2009.01.008. PMID 19200853.

CLCN2

See also

References

Further reading

External links