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; OMA:CLCN2 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	184,361,650 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	20,536,496 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; tibial nerve; ; sural nerve; ; right testis; ; left testis; ; right hemisphere of cerebellum; ; C1 segment; ; rectum; ; gallbladder; ; right ovary;
	Top expressed in
	intestinal villus; ; visual cortex; ; duodenum; ; primary visual cortex; ; superior frontal gyrus; ; jejunum; ; large intestine; ; colon; ; renal capsule; ; spermatocyte;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	voltage-gated ion channel activity; chloride channel activity; voltage-gated chloride channel activity; protein binding;
Cellular component	integral component of membrane; plasma 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^[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.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000114859 – Ensembl, May 2017
^ ^a ^b ^c 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 (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.

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

[7] 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.

[pmid19200853-8] 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.

[pmid20037607-9] 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.

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