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
Species
Human
Mouse
Entrez
1181
12724
Ensembl
ENSG00000114859
ENSMUSG00000022843
UniProt
P51788
Q9R0A1
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 Mb
Chr 16: 20.52 – 20.54 Mb
PubMed search
[3]
[4]
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.
^ abcGRCh38: Ensembl release 89: ENSG00000114859 – Ensembl, May 2017
^ abcGRCm38: 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.
Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene. Mutations of this gene have been found to cause leukoencephalopathy...
this disorder has been shown to mutations in the genes GABRA1, CACNB4, CLCN2, GABRD2, EFHC1, and EFHC2. This type of IGE can present at almost any age...
diseases. Mutations in CLCN1 lead to myotonia (OMIM: 160800), mutations in CLCN2 can lead to idiopathic generalised epilepsy (OMIM: 600699), mutations in...