Aliases for CLCN3 Gene
External Ids for CLCN3 Gene
Previous GeneCards Identifiers for CLCN3 Gene
This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
GeneCards Summary for CLCN3 Gene
CLCN3 (Chloride Voltage-Gated Channel 3) is a Protein Coding gene. Diseases associated with CLCN3 include Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome and Immunodeficiency 13. Among its related pathways are Ion channel transport and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ion channel activity. An important paralog of this gene is CLCN5.
UniProtKB/Swiss-Prot Summary for CLCN3 Gene
[Isoform 1]: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons (By similarity). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (PubMed:29845874). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (PubMed:29845874).
[Isoform 2]: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons.