Gene: CLCNKB

Alternate names for this Gene: CLCKB|ClC-K2|ClC-Kb

Gene Summary: The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.13

Description of this Gene: chloride voltage-gated channel Kb

Type of Gene: protein-coding

rs121909131 in CLCNKB gene and Bartter syndrome, type 3 PMID 9326936 1997 Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.

rs140307022 in CLCNKB gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.