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GeneQ17862108· pop 7· linked from 360 articles

Also known as CLCKB, ClC-K2, ClC-Kb, chloride voltage-gated channel Kb

Chloride channel Kb, also known as CLCNKB, is a protein which in humans is encoded by the CLCNKB gene.

Gene data

CLCNKB
Name
chloride voltage-gated channel Kb
Type
protein-coding
Aliases
CLCKB, ClC-K2, ClC-Kb

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. [provided by RefSeq, Sep 2009].

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Gene · Ensembl

chloride voltage-gated channel Kb

Symbol
CLCNKB
Biotype
Protein coding
Organism
Homo sapiens
Location
1:16,040,252-16,057,367
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts
HomoloGene ID
65
genomic end
16057311
genomic start
16040252
cytogenetic location
1p36.13
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Chloride channel Kb, also known as CLCNKB, is a protein which in humans is encoded by the CLCNKB gene.

Chloride channel Kb (CLCNKB) is a member of the CLC family of voltage-gated chloride channels, which comprises at least 9 mammalian chloride channels. Each is believed to have 12 transmembrane domains and intracellular N and C termini. Mutations in CLCNKB result in the autosomal recessive Type III Bartter syndrome. CLCNKA and CLCNKB are closely related (94% sequence identity), tightly linked (separated by 11 kb of genomic sequence) and are both expressed in mammalian kidney.

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