InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLCNKB

Summary

InnateDB Protein

IDBP-91384.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CLCNKB

Protein Name

chloride channel Kb

Synonyms

ClC-K2; ClC-Kb; CLCKB;

Species

Homo sapiens

Ensembl Protein

ENSP00000364831

InnateDB Gene

IDBG-91382 (CLCNKB)

Protein Structure

UniProt Annotation

Function

Voltage-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:0000269PubMed:11734858}.

Subcellular Localization

Cell membrane; Multi-pass membrane protein.

Disease Associations

Bartter 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:0000269PubMed:9326936}. Note=The disease is caused by mutations affecting the gene represented in this entry.Bartter 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:0000269PubMed:15044642, ECO:0000269PubMed: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:0000269PubMed:18310267}.

Tissue Specificity

Expressed predominantly in the kidney. {ECO:0000269PubMed:11734858}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005247	voltage-gated chloride channel activity
GO:0030554	adenyl nucleotide binding
GO:0046872	metal ion binding

Biological Process

GO:0006810	transport
GO:0006821	chloride transport
GO:0007588	excretion
GO:0034220	ion transmembrane transport
GO:0034765	regulation of ion transmembrane transport
GO:0044070	regulation of anion transport
GO:0055085	transmembrane transport
GO:1902476	chloride transmembrane transport