CLCN2

From Wikipedia, the free encyclopedia


Chloride channel 2
Identifiers
Symbol(s) CLCN2; CIC-2; CLC2; ECA3; EGI3; EGMA
External IDs OMIM: 600570 MGI105061 HomoloGene3213
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 1181 12724
Ensembl ENSG00000114859 ENSMUSG00000022843
Uniprot P51788 Q0VBC2
Refseq NM_004366 (mRNA)
NP_004357 (protein)
NM_009900 (mRNA)
NP_034030 (protein)
Location Chr 3: 185.55 - 185.56 Mb Chr 16: 20.62 - 20.63 Mb
Pubmed search [1] [2]

Chloride channel 2, also known as CLCN2, is a human gene.[1]


[edit] References

[edit] Further reading

  • Cid LP, Montrose-Rafizadeh C, Smith DI, et al. (1995). "Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues.". Hum. Mol. Genet. 4 (3): 407–13. PMID 7795595. 
  • 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): 657–66. 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): 1465–72. 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. 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): 23604–11. 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): 16899–903. doi:10.1073/pnas.242603899. 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): 16262–70. doi:10.1074/jbc.M209828200. PMID 12601004. 
  • 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): 527–32. doi:10.1038/ng1121. PMID 12612585. 
  • 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): 21849–56. 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): 41444–52. 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): 105–8. 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): 31–9. 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): 2121–7. doi:10.1101/gr.2596504. 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. 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. 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): C45–56. doi:10.1152/ajpcell.00209.2005. PMID 16049054.