CLCN2
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Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene.[4][5] Mutations of this gene have been found to cause leukoencephalopathy (PMID 23707145) and Idiopathic generalised epilepsy (OMIM: 600699).[6][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
- ↑ "Drugs that physically interact with Chloride channel protein 2 view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ 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.
Further reading
- 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. 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. doi:10.1152/ajpcell.00209.2005. PMID 16049054.
External links
- CLCN2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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