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MGP000587

UniProt Annotations

Entry Information
Gene Namechloride channel, voltage-sensitive Kb
Protein EntryCLCKB_HUMAN
UniProt IDP51801
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51801-1; Sequence=Displayed; Name=2; IsoId=P51801-2; Sequence=VSP_045965, VSP_045966, VSP_045967; Note=No experimental confirmation available.;
DiseaseBartter syndrome 3 (BS3) [MIM:607364]: An autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. {ECO:0000269|PubMed:9326936}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseBartter syndrome 4B (BS4B) [MIM:613090]: A digenic, recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 4B is associated with sensorineural deafness. {ECO:0000269|PubMed:15044642, ECO:0000269|PubMed:18310267}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed:18310267). {ECO:0000269|PubMed:18310267}.
FunctionVoltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms. {ECO:0000269|PubMed:11734858}.
MiscellaneousCompared with CLCNKA/BSND, CLCNKB/BSND is more sensitive to pH and less responsive to Ca(2+).
SimilarityBelongs to the chloride channel (TC 2.A.49) family. CLCNKB subfamily. {ECO:0000305}.
SimilarityContains 2 CBS domains. {ECO:0000255|PROSITE- ProRule:PRU00703}.
Subcellular LocationCell membrane; Multi-pass membrane protein.
SubunitInteracts with BSND. Forms heteromers with BSND in the thick ascending limb of Henle and more distal segments (By similarity). {ECO:0000250}.
Tissue SpecificityExpressed predominantly in the kidney. {ECO:0000269|PubMed:11734858}.
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