CLCN2

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Chloride channel, voltage-sensitive 2
Identifiers
Symbols CLCN2 ; CIC-2; CLC2; ECA2; ECA3; EGI11; EGI3; EGMA; EJM6; EJM8; LKPAT; clC-2
External IDs OMIM600570 MGI105061 HomoloGene3213 IUPHAR: ClC-2 ChEMBL: 1628478 GeneCards: CLCN2 Gene
RNA expression pattern
PBB GE CLCN2 213499 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1181 12724
Ensembl ENSG00000114859 ENSMUSG00000022843
UniProt P51788 Q9R0A1
RefSeq (mRNA) NM_001171087 NM_009900
RefSeq (protein) NP_001164558 NP_034030
Location (UCSC) Chr 3:
184.06 – 184.08 Mb
Chr 16:
20.7 – 20.72 Mb
PubMed search [1] [2]

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.


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References[edit]

  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. 

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