InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BSND

Summary

InnateDB Protein

IDBP-99072.5

Last Modified

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

Gene Symbol

BSND

Protein Name

Bartter syndrome, infantile, with sensorineural deafness (Barttin)

Synonyms

BART; DFNB73;

Species

Homo sapiens

Ensembl Protein

ENSP00000360312

InnateDB Gene

IDBG-99070 (BSND)

Protein Structure

UniProt Annotation

Function

Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter. {ECO:0000269PubMed:11734858, ECO:0000269PubMed:12111250}.

Subcellular Localization

Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=A significant amount also observed intracellularly. Staining in membranes of the renal tubule and of potassium-secreting epithelia of the inner ear is basolateral (By similarity). {ECO:0000250}.

Disease Associations

Bartter syndrome 4A (BS4A) [MIM:602522]: 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. Bartter syndrome type 4 is associated with sensorineural deafness. {ECO:0000269PubMed:11687798, ECO:0000269PubMed:12574213}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear. {ECO:0000269PubMed:11687798}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005254	chloride channel activity
GO:0005515	protein binding
GO:0017081	chloride channel regulator activity

Biological Process

GO:0006821	chloride transport
GO:0034220	ion transmembrane transport
GO:0055085	transmembrane transport
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016323	basolateral plasma membrane
GO:0043234	protein complex