CLCN2

Chloride channel 2
Identifiers
Symbols CLCN2; CIC-2; CLC2; ECA2; ECA3; EGI11; EGI3; EGMA; EJM6; EJM8
External IDs OMIM: 600570 MGI: 105061 HomoloGene: 3213 GeneCards: CLCN2 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 1181 12724
Ensembl ENSG00000114859 ENSMUSG00000022843
UniProt P51788 Q0VBC2
RefSeq (mRNA) NM_001171087.1 NM_009900.2
RefSeq (protein) NP_001164558.1 NP_034030.2
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 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.

Contents

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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1181. 
  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. 
  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.