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{{Infobox_gene}}
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'''Chloride channel protein 2''' is a [[protein]] that in humans is encoded by the ''CLCN2'' [[gene]].<ref name="pmid7795595">{{cite journal | vauthors = Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR | title = Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues | journal = Hum Mol Genet | volume = 4 | issue = 3 | pages = 407–413 |date=Aug 1995 | pmid = 7795595 | pmc = | doi =10.1093/hmg/4.3.407 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CLCN2 chloride channel 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1181| accessdate = }}</ref> Mutations of this gene have been found to cause [[leukoencephalopathy]] ({{PMID|23707145}}) and [[Generalised epilepsy|Idiopathic generalised epilepsy]] ({{OMIM3|600699}}).<ref>{{cite journal | author=Haug K |title=Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies |journal=Nat. Genet. |volume=33 |issue= 4 |pages= 527–532 |year= 2003 |pmid= 12612585 |doi= 10.1038/ng1121 |name-list-format=vanc| author2=Warnstedt M | author3=Alekov AK | display-authors=3 | last4=Sander | first4=Thomas | last5=Ramírez | first5=Alfredo | last6=Poser | first6=Barbara | last7=Maljevic | first7=Snezana | last8=Hebeisen | first8=Simon | last9=Kubisch | first9=Christian }}{{Retracted paper|intentional=yes}}</ref><ref name="pmid19200853">{{cite journal |author=Combi R |title=Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy |journal=Brain Res. Bull. |volume=79 |issue=2 |pages=89–96 |date=April 2009 |pmid=19200853 |doi=10.1016/j.brainresbull.2009.01.008 |url= |name-list-format=vanc|author2=Grioni D |author3=Contri M |display-authors=3 |last4=Redaelli |first4=Serena |last5=Redaelli |first5=Francesca |last6=Bassi |first6=Maria Teresa |last7=Barisani |first7=Donatella |last8=Lavitrano |first8=Maria Luisa |last9=Tredici |first9=Giovanni}}</ref> CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the [[CBS domain]].
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{{GNF_Protein_box
{{PBB_Summary
| image =
| section_title =
| image_source =
| summary_text =
| PDB =
| Name = Chloride channel 2
| HGNCid = 2020
| Symbol = CLCN2
| AltSymbols =; CIC-2; CLC2; ECA3; EGI3; EGMA
| OMIM = 600570
| ECnumber = 
| Homologene = 3213
| MGIid = 105061
| GeneAtlas_image1 = PBB_GE_CLCN2_213499_at_tn.png
| Function = {{GNF_GO|id=GO:0005247 |text = voltage-gated chloride channel activity}} {{GNF_GO|id=GO:0031404 |text = chloride ion binding}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006821 |text = chloride transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1181
    | Hs_Ensembl = ENSG00000114859
    | Hs_RefseqProtein = NP_004357
    | Hs_RefseqmRNA = NM_004366
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 3
    | Hs_GenLoc_start = 185547088
    | Hs_GenLoc_end = 185561961
    | Hs_Uniprot = P51788
    | Mm_EntrezGene = 12724
    | Mm_Ensembl = ENSMUSG00000022843
    | Mm_RefseqmRNA = NM_009900
    | Mm_RefseqProtein = NP_034030
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 16
    | Mm_GenLoc_start = 20616507
    | Mm_GenLoc_end = 20629657
    | Mm_Uniprot = Q0VBC2
  }}
}}
}}
'''Chloride channel 2''', also known as '''CLCN2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CLCN2 chloride channel 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1181| accessdate = }}</ref>


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==See also==
{{PBB_Summary
* [[Chloride channel]]
| section_title =  
| summary_text =  
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==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
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| citations =  
| citations =
*{{cite journal | author=Cid LP, Montrose-Rafizadeh C, Smith DI, ''et al.'' |title=Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues. |journal=Hum. Mol. Genet. |volume=4 |issue= 3 |pages= 407-13 |year= 1995 |pmid= 7795595 |doi= }}
*{{cite journal | author=Lamb FS |title=Expression of CLCN voltage-gated chloride channel genes in human blood vessels |journal=J. Mol. Cell. Cardiol. |volume=31 |issue= 3 |pages= 657–666 |year= 1999 |pmid= 10198195 |doi= 10.1006/jmcc.1998.0901 |name-list-format=vanc| author2=Clayton GH | author3=Liu BX | display-authors=3 | last4=Smith | first4=RL | last5=Barna | first5=TJ | last6=Schutte | first6=BC }}
*{{cite journal  | author=Lamb FS, Clayton GH, Liu BX, ''et al.'' |title=Expression of CLCN voltage-gated chloride channel genes in human blood vessels. |journal=J. Mol. Cell. Cardiol. |volume=31 |issue= 3 |pages= 657-66 |year= 1999 |pmid= 10198195 |doi= 10.1006/jmcc.1998.0901 }}
*{{cite journal | author=Sander T |title=Genome search for susceptibility loci of common idiopathic generalised epilepsies |journal=Hum. Mol. Genet. |volume=9 |issue= 10 |pages= 1465–1472 |year= 2000 |pmid= 10888596 |doi=10.1093/hmg/9.10.1465 |name-list-format=vanc| author2=Schulz H | author3=Saar K | display-authors=3 | last4=Gennaro | first4=E | last5=Riggio | first5=MC | last6=Bianchi | first6=A | last7=Zara | first7=F | last8=Luna | first8=D | last9=Bulteau | first9=C }}
*{{cite journal | author=Sander T, Schulz H, Saar K, ''et al.'' |title=Genome search for susceptibility loci of common idiopathic generalised epilepsies. |journal=Hum. Mol. Genet. |volume=9 |issue= 10 |pages= 1465-72 |year= 2000 |pmid= 10888596 |doi= }}
*{{cite journal | author=Lamb FS |title=Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium |journal=Am. J. Respir. Cell Mol. Biol. |volume=24 |issue= 4 |pages= 376–81 |year= 2001 |pmid= 11306429 |doi= 10.1165/ajrcmb.24.4.4114|name-list-format=vanc| author2=Graeff RW | author3=Clayton GH | display-authors=3 | last4=Smith | first4=RL | last5=Schutte | first5=BC | last6=McCray Jr | first6=PB }}
*{{cite journal  | author=Lamb FS, Graeff RW, Clayton GH, ''et al.'' |title=Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium. |journal=Am. J. Respir. Cell Mol. Biol. |volume=24 |issue= 4 |pages= 376-81 |year= 2001 |pmid= 11306429 |doi= }}
*{{cite journal | author=Lipecka J |title=Distribution of ClC-2 chloride channel in rat and human epithelial tissues |journal=Am. J. Physiol., Cell Physiol. |volume=282 |issue= 4 |pages= C805–16 |year= 2002 |pmid= 11880269 |doi= 10.1152/ajpcell.00291.2001 |name-list-format=vanc| author2=Bali M | author3=Thomas A | display-authors=3 | last4=Fanen | first4=P | last5=Edelman | first5=A | last6=Fritsch | first6=J }}
*{{cite journal | author=Lipecka J, Bali M, Thomas A, ''et al.'' |title=Distribution of ClC-2 chloride channel in rat and human epithelial tissues. |journal=Am. J. Physiol., Cell Physiol. |volume=282 |issue= 4 |pages= C805-16 |year= 2002 |pmid= 11880269 |doi= 10.1152/ajpcell.00291.2001 }}
*{{cite journal | author=Nehrke K |title=Loss of hyperpolarization-activated Cl<sup>−</sup> current in salivary acinar cells from Clcn2 knockout mice |journal=J. Biol. Chem. |volume=277 |issue= 26 |pages= 23604–23611 |year= 2002 |pmid= 11976342 |doi= 10.1074/jbc.M202900200 |name-list-format=vanc| author2=Arreola J | author3=Nguyen HV | display-authors=3 | last4=Pilato | first4=J | last5=Richardson | first5=L | last6=Okunade | first6=G | last7=Baggs | first7=R | last8=Shull | first8=GE | last9=Melvin | first9=JE }}
*{{cite journal  | author=Nehrke K, Arreola J, Nguyen HV, ''et al.'' |title=Loss of hyperpolarization-activated Cl(-) current in salivary acinar cells from Clcn2 knockout mice. |journal=J. Biol. Chem. |volume=277 |issue= 26 |pages= 23604-11 |year= 2002 |pmid= 11976342 |doi= 10.1074/jbc.M202900200 }}
*{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–16903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal | author=Dhani SU |title=Evidence for a functional interaction between the ClC-2 chloride channel and the retrograde motor dynein complex |journal=J. Biol. Chem. |volume=278 |issue= 18 |pages= 16262–16270 |year= 2003 |pmid= 12601004 |doi= 10.1074/jbc.M209828200 |name-list-format=vanc| author2=Mohammad-Panah R | author3=Ahmed N | display-authors=3 | last4=Ackerley | first4=C | last5=Ramjeesingh | first5=M | last6=Bear | first6=CE }}
*{{cite journal  | author=Dhani SU, Mohammad-Panah R, Ahmed N, ''et al.'' |title=Evidence for a functional interaction between the ClC-2 chloride channel and the retrograde motor dynein complex. |journal=J. Biol. Chem. |volume=278 |issue= 18 |pages= 16262-70 |year= 2003 |pmid= 12601004 |doi= 10.1074/jbc.M209828200 }}
*{{cite journal | author=Olsen ML |title=Expression of voltage-gated chloride channels in human glioma cells |journal=J. Neurosci. |volume=23 |issue= 13 |pages= 5572–82 |year= 2003 |pmid= 12843258 |doi= |name-list-format=vanc| author2=Schade S | author3=Lyons SA | display-authors=3 | last4=Amaral | first4=MD | last5=Sontheimer | first5=H }}
*{{cite journal  | author=Haug K, Warnstedt M, Alekov AK, ''et al.'' |title=Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. |journal=Nat. Genet. |volume=33 |issue= 4 |pages= 527-32 |year= 2003 |pmid= 12612585 |doi= 10.1038/ng1121 }}
*{{cite journal | author=Cuppoletti J |title=Sites of protein kinase A activation of the human ClC-2 Cl(-) channel |journal=J. Biol. Chem. |volume=279 |issue= 21 |pages= 21849–21856 |year= 2004 |pmid= 15010473 |doi= 10.1074/jbc.M312567200 |name-list-format=vanc| author2=Tewari KP | author3=Sherry AM | display-authors=3 | last4=Ferrante | first4=CJ | last5=Malinowska | first5=DH }}
*{{cite journal | author=Olsen ML, Schade S, Lyons SA, ''et al.'' |title=Expression of voltage-gated chloride channels in human glioma cells. |journal=J. Neurosci. |volume=23 |issue= 13 |pages= 5572-82 |year= 2003 |pmid= 12843258 |doi= }}
*{{cite journal | author=Niemeyer MI |title=Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies |journal=Physiol. Genomics |volume=19 |issue= 1 |pages= 74–83 |year= 2005 |pmid= 15252188 |doi= 10.1152/physiolgenomics.00070.2004 |name-list-format=vanc| author2=Yusef YR | author3=Cornejo I | display-authors=3 | last4=Flores | first4=CA | last5=Sepúlveda | first5=FV | last6=Cid | first6=LP }}
*{{cite journal  | author=Cuppoletti J, Tewari KP, Sherry AM, ''et al.'' |title=Sites of protein kinase A activation of the human ClC-2 Cl(-) channel. |journal=J. Biol. Chem. |volume=279 |issue= 21 |pages= 21849-56 |year= 2004 |pmid= 15010473 |doi= 10.1074/jbc.M312567200 }}
*{{cite journal | author=Huber SM |title=Plasmodium induces swelling-activated ClC-2 anion channels in the host erythrocyte |journal=J. Biol. Chem. |volume=279 |issue= 40 |pages= 41444–41452 |year= 2004 |pmid= 15272009 |doi= 10.1074/jbc.M407618200 |name-list-format=vanc| author2=Duranton C | author3=Henke G | display-authors=3 | last4=Van De Sand | first4=C | last5=Heussler | first5=V | last6=Shumilina | first6=E | last7=Sandu | first7=CD | last8=Tanneur | first8=V | last9=Brand | first9=V }}
*{{cite journal | author=Niemeyer MI, Yusef YR, Cornejo I, ''et al.'' |title=Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies. |journal=Physiol. Genomics |volume=19 |issue= 1 |pages= 74-83 |year= 2005 |pmid= 15252188 |doi= 10.1152/physiolgenomics.00070.2004 }}
*{{cite journal | author=Hori K |title=Is the ClC-2 chloride channel involved in the Cl<sup>−</sup> secretory mechanism of gastric parietal cells? |journal=FEBS Lett. |volume=575 |issue= 1–3 |pages= 105–108 |year= 2004 |pmid= 15388342 |doi= 10.1016/j.febslet.2004.08.044 |name-list-format=vanc| author2=Takahashi Y | author3=Horikawa N | display-authors=3 | last4=Furukawa | first4=T | last5=Tsukada | first5=K | last6=Takeguchi | first6=N | last7=Sakai | first7=H }}
*{{cite journal  | author=Huber SM, Duranton C, Henke G, ''et al.'' |title=Plasmodium induces swelling-activated ClC-2 anion channels in the host erythrocyte. |journal=J. Biol. Chem. |volume=279 |issue= 40 |pages= 41444-52 |year= 2004 |pmid= 15272009 |doi= 10.1074/jbc.M407618200 }}
*{{cite journal | vauthors=Chu S, Blaisdell CJ, Bamford P, Ferro TJ |title=Interferon-gamma regulates ClC-2 chloride channel in lung epithelial cells |journal=Biochem. Biophys. Res. Commun. |volume=324 |issue= 1 |pages= 31–39 |year= 2004 |pmid= 15464978 |doi= 10.1016/j.bbrc.2004.09.026 }}
*{{cite journal | author=Hori K, Takahashi Y, Horikawa N, ''et al.'' |title=Is the ClC-2 chloride channel involved in the Cl- secretory mechanism of gastric parietal cells? |journal=FEBS Lett. |volume=575 |issue= 1-3 |pages= 105-8 |year= 2004 |pmid= 15388342 |doi= 10.1016/j.febslet.2004.08.044 }}
*{{cite journal | author=Gerhard DS |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–2127 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
*{{cite journal  | author=Chu S, Blaisdell CJ, Bamford P, Ferro TJ |title=Interferon-gamma regulates ClC-2 chloride channel in lung epithelial cells. |journal=Biochem. Biophys. Res. Commun. |volume=324 |issue= 1 |pages= 31-9 |year= 2004 |pmid= 15464978 |doi= 10.1016/j.bbrc.2004.09.026 }}
*{{cite journal | author=D'Agostino D |title=Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy |journal=Neurology |volume=63 |issue= 8 |pages= 1500–2 |year= 2006 |pmid= 15505175 |doi= 10.1212/01.wnl.0000142093.94998.1a |name-list-format=vanc| author2=Bertelli M | author3=Gallo S | display-authors=3 | last4=Cecchin | first4=S | last5=Albiero | first5=E | last6=Garofalo | first6=PG | last7=Gambardella | first7=A | last8=St Hilaire | first8=JM | last9=Kwiecinski | first9=H }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal | author=Blaisdell CJ |title=CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity |journal=BMC Med. Genet. |volume=5|pages= 26 |year= 2004 |pmid= 15507145 |doi= 10.1186/1471-2350-5-26 | pmc=526769 |name-list-format=vanc| author2=Howard TD | author3=Stern A | display-authors=3 | last4=Bamford | first4=Penelope | last5=Bleecker | first5=Eugene R | last6=Stine | first6=O Colin }}
*{{cite journal | author=D'Agostino D, Bertelli M, Gallo S, ''et al.'' |title=Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy. |journal=Neurology |volume=63 |issue= 8 |pages= 1500-2 |year= 2006 |pmid= 15505175 |doi= }}
*{{cite journal | author=Heils A |title=CLCN2 and idiopathic generalized epilepsy |journal=Advances in neurology |volume=95 |issue= |pages= 265–71 |year= 2004 |pmid= 15508929 |doi= }}
*{{cite journal  | author=Blaisdell CJ, Howard TD, Stern A, ''et al.'' |title=CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity. |journal=BMC Med. Genet. |volume=5 |issue= |pages= 26 |year= 2004 |pmid= 15507145 |doi= 10.1186/1471-2350-5-26 }}
*{{cite journal | author=Hinzpeter A |title=Association between Hsp90 and the ClC-2 chloride channel upregulates channel function |journal=Am. J. Physiol., Cell Physiol. |volume=290 |issue= 1 |pages= C45–C56 |year= 2006 |pmid= 16049054 |doi= 10.1152/ajpcell.00209.2005 |name-list-format=vanc| author2=Lipecka J | author3=Brouillard F | display-authors=3 | last4=Baudoin-Legros | first4=M | last5=Dadlez | first5=M | last6=Edelman | first6=A | last7=Fritsch | first7=J }}
*{{cite journal | author=Heils A |title=CLCN2 and idiopathic generalized epilepsy. |journal=Advances in neurology |volume=95 |issue= |pages= 265-71 |year= 2004 |pmid= 15508929 |doi= }}
*{{cite journal  | author=Hinzpeter A, Lipecka J, Brouillard F, ''et al.'' |title=Association between Hsp90 and the ClC-2 chloride channel upregulates channel function. |journal=Am. J. Physiol., Cell Physiol. |volume=290 |issue= 1 |pages= C45-56 |year= 2006 |pmid= 16049054 |doi= 10.1152/ajpcell.00209.2005 }}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* {{MeshName|CLCN2+protein,+human}}
* {{UCSC gene info|CLCN2}}
 
{{NLM content}}
{{Ion channels|g4}}
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[[Category:Ion channels]]

Revision as of 09:45, 30 August 2017

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SpeciesHumanMouse
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View/Edit Human

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 (PMID 23707145) and Idiopathic generalised epilepsy (OMIM: 600699).[3][4] CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.


See also

References

  1. ↑ 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.
  2. ↑ "Entrez Gene: CLCN2 chloride channel 2".
  3. ↑ 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)
  4. ↑ 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

External links

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

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