Jump to content
 







Main menu
   


Navigation  



Main page
Contents
Current events
Random article
About Wikipedia
Contact us
Donate
 




Contribute  



Help
Learn to edit
Community portal
Recent changes
Upload file
 








Search  

































Create account

Log in
 









Create account
 Log in
 




Pages for logged out editors learn more  



Contributions
Talk
 



















Contents

   



(Top)
 


1 See also  





2 References  





3 Further reading  





4 External links  














CLCN2






Русский
Українська
 

Edit links
 









Article
Talk
 

















Read
Edit
View history
 








Tools
   


Actions  



Read
Edit
View history
 




General  



What links here
Related changes
Upload file
Special pages
Permanent link
Page information
Cite this page
Get shortened URL
Download QR code
Wikidata item
 




Print/export  



Download as PDF
Printable version
 
















Appearance
   

 






From Wikipedia, the free encyclopedia
 


CLCN2
Identifiers
AliasesCLCN2, CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, LKPAT, clC-2, chloride voltage-gated channel 2, HALD2
External IDsOMIM: 600570; MGI: 105061; HomoloGene: 3213; GeneCards: CLCN2; OMA:CLCN2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001171087
NM_001171088
NM_001171089
NM_004366

NM_009900

RefSeq (protein)

NP_001164558
NP_001164559
NP_001164560
NP_004357

NP_034030

Location (UCSC)Chr 3: 184.35 – 184.36 MbChr 16: 20.52 – 20.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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[7] and Idiopathic generalised epilepsy (OMIM: 600699),[8] although the latter claim has been disputed.[9] CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.

See also

[edit]

References

[edit]
  • ^ "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 (March 1995). "Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues". Human Molecular Genetics. 4 (3): 407–13. doi:10.1093/hmg/4.3.407. PMID 7795595.
  • ^ "Entrez Gene: CLCN2 chloride channel 2".
  • ^ Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, et al. (July 2013). "Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study". The Lancet. Neurology. 12 (7): 659–68. doi:10.1016/S1474-4422(13)70053-X. hdl:11858/00-001M-0000-0018-F3BD-9. PMID 23707145. S2CID 16634353.
  • ^ Combi R, Grioni D, Contri M, Redaelli S, Redaelli F, Bassi MT, et al. (April 2009). "Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy". Brain Research Bulletin. 79 (2): 89–96. doi:10.1016/j.brainresbull.2009.01.008. PMID 19200853. S2CID 3036929.
  • ^ Niemeyer MI, Cid LP, Sepúlveda FV, Blanz J, Auberson M, Jentsch TJ (January 2010). "No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy". Nature Genetics. 42 (1): 3. doi:10.1038/ng0110-3. PMID 20037607.
  • Further reading

    [edit]
    • Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC (March 1999). "Expression of CLCN voltage-gated chloride channel genes in human blood vessels". Journal of Molecular and Cellular Cardiology. 31 (3): 657–66. doi:10.1006/jmcc.1998.0901. PMID 10198195.
  • Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A, et al. (June 2000). "Genome search for susceptibility loci of common idiopathic generalised epilepsies". Human Molecular Genetics. 9 (10): 1465–72. doi:10.1093/hmg/9.10.1465. PMID 10888596.
  • Lamb FS, Graeff RW, Clayton GH, Smith RL, Schutte BC, McCray PB (April 2001). "Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium". American Journal of Respiratory Cell and Molecular Biology. 24 (4): 376–81. doi:10.1165/ajrcmb.24.4.4114. PMID 11306429.
  • Lipecka J, Bali M, Thomas A, Fanen P, Edelman A, Fritsch J (April 2002). "Distribution of ClC-2 chloride channel in rat and human epithelial tissues". American Journal of Physiology. Cell Physiology. 282 (4): C805-16. doi:10.1152/ajpcell.00291.2001. PMID 11880269.
  • Nehrke K, Arreola J, Nguyen HV, Pilato J, Richardson L, Okunade G, et al. (June 2002). "Loss of hyperpolarization-activated Cl(-) current in salivary acinar cells from Clcn2 knockout mice". The Journal of Biological Chemistry. 277 (26): 23604–11. doi:10.1074/jbc.M202900200. PMID 11976342.
  • Dhani SU, Mohammad-Panah R, Ahmed N, Ackerley C, Ramjeesingh M, Bear CE (May 2003). "Evidence for a functional interaction between the ClC-2 chloride channel and the retrograde motor dynein complex". The Journal of Biological Chemistry. 278 (18): 16262–70. doi:10.1074/jbc.M209828200. PMID 12601004.
  • Olsen ML, Schade S, Lyons SA, Amaral MD, Sontheimer H (July 2003). "Expression of voltage-gated chloride channels in human glioma cells". The Journal of Neuroscience. 23 (13): 5572–82. doi:10.1523/JNEUROSCI.23-13-05572.2003. PMC 6741216. PMID 12843258.
  • Cuppoletti J, Tewari KP, Sherry AM, Ferrante CJ, Malinowska DH (May 2004). "Sites of protein kinase A activation of the human ClC-2 Cl(-) channel". The Journal of Biological Chemistry. 279 (21): 21849–56. doi:10.1074/jbc.M312567200. PMID 15010473.
  • Niemeyer MI, Yusef YR, Cornejo I, Flores CA, Sepúlveda FV, Cid LP (September 2004). "Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies". Physiological Genomics. 19 (1): 74–83. doi:10.1152/physiolgenomics.00070.2004. hdl:10533/175595. PMID 15252188.
  • Huber SM, Duranton C, Henke G, Van De Sand C, Heussler V, Shumilina E, et al. (October 2004). "Plasmodium induces swelling-activated ClC-2 anion channels in the host erythrocyte". The Journal of Biological Chemistry. 279 (40): 41444–52. doi:10.1074/jbc.M407618200. PMID 15272009.
  • Hori K, Takahashi Y, Horikawa N, Furukawa T, Tsukada K, Takeguchi N, Sakai H (September 2004). "Is the ClC-2 chloride channel involved in the Cl- secretory mechanism of gastric parietal cells?". FEBS Letters. 575 (1–3): 105–8. Bibcode:2004FEBSL.575..105H. doi:10.1016/j.febslet.2004.08.044. PMID 15388342. S2CID 13755479.
  • Chu S, Blaisdell CJ, Bamford P, Ferro TJ (November 2004). "Interferon-gamma regulates ClC-2 chloride channel in lung epithelial cells". Biochemical and Biophysical Research Communications. 324 (1): 31–9. doi:10.1016/j.bbrc.2004.09.026. PMID 15464978.
  • D'Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, et al. (October 2004). "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. S2CID 46730230.
  • Blaisdell CJ, Howard TD, Stern A, Bamford P, Bleecker ER, Stine OC (October 2004). "CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity". BMC Medical Genetics. 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, Baudoin-Legros M, Dadlez M, Edelman A, Fritsch J (January 2006). "Association between Hsp90 and the ClC-2 chloride channel upregulates channel function". American Journal of Physiology. Cell Physiology. 290 (1): C45-56. CiteSeerX 10.1.1.533.5601. doi:10.1152/ajpcell.00209.2005. PMID 16049054. S2CID 8655480.
  • [edit]

    This article incorporates text from the United States National Library of Medicine, which is in the public domain.


    Retrieved from "https://en.wikipedia.org/w/index.php?title=CLCN2&oldid=1234945630"

    Categories: 
    Genes on human chromosome 3
    Ion channels
    Hidden categories: 
    Articles with short description
    Short description matches Wikidata
    Wikipedia articles incorporating text from the United States National Library of Medicine
     



    This page was last edited on 16 July 2024, at 23:35 (UTC).

    Text is available under the Creative Commons Attribution-ShareAlike License 4.0; additional terms may apply. By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc., a non-profit organization.



    Privacy policy

    About Wikipedia

    Disclaimers

    Contact Wikipedia

    Code of Conduct

    Developers

    Statistics

    Cookie statement

    Mobile view



    Wikimedia Foundation
    Powered by MediaWiki