| 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}.
|
![Western Blot: BSND Overexpression Lysate (Adult Normal) [NBP2-05803] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for BSND.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/6340_BSND%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBP2-05803-img0001.jpg)