Gene Symbol | BSND |
---|---|
Entrez Gene | 7809 |
Alt Symbol | BART, DFNB73 |
Species | Human |
Gene Type | protein-coding |
Description | barttin CLCNK-type chloride channel accessory beta subunit |
Other Description | Bartter syndrome, infantile, with sensorineural deafness (Barttin)|barttin|deafness, autosomal recessive 73 |
Swissprots | Q8WZ55 Q6NT28 |
Accessions | EAX06661 Q8WZ55 AK129999 AY034632 AAK57750 BC069510 BC103898 AAI03899 BC103899 AAI03900 BC103900 AAI03901 XM_006710883 XP_006710946 NM_057176 NP_476517 |
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:0000269|PubMed:11734858, ECO:0000269|PubMed:12111250}. |
Subcellular Location | 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}. |
Tissue Specificity | Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear. {ECO:0000269|PubMed:11687798}. |