chloride channel protein 2; ClC-2 (CLCN2)

Function

• voltage-gated chloride channel
• chloride channels have several functions including
  • regulation of cell volume
  • membrane potential stabilization
  • signal transduction
  • transepithelial transport

Structure

• belongs to the chloride channel (TC 2.A.49) family
• contains 2 CBS domains

Compartment

membrane

Alternative splicing

named isoforms=3

Expression

• ubiquitously expressed
• moderately expressed in aortic & coronary vascular smooth muscle cells
• expressed at a low level in aortic endothelial cells

Pathology

• defects in CLCN2 may be the cause of epilepsy with grand mal seizures on awakening
• defects in CLCN2 are the cause of childhood absence epilepsy type 3
• defects in CLCN2 are a cause of juvenile absence epilepsy

Notes

• at least 1 isoform may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay

More general terms

• Cl- channel
• transmembrane 10 protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1181
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1181
• OMIM: https://mirror.omim.org/entry/600570
• OMIM: https://mirror.omim.org/entry/607628
• OMIM: https://mirror.omim.org/entry/607631
• OMIM: https://mirror.omim.org/entry/607682
• UniProt: http://www.uniprot.org/uniprot/P51788.html