ID:BSND_HUMAN DESCRIPTION: RecName: Full=Barttin; 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. SUBUNIT: Interacts with CLCNK channels. Forms heteromers with CLCNKA in the thin ascending limb of Henle and with CLCNKB in the thick ascending limb and more distal segments (By similarity). SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (By similarity). Cytoplasm (By similarity). 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). TISSUE SPECIFICITY: Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear. DISEASE: Defects in BSND are the cause of Bartter syndrome type 4A (BS4A) [MIM:602522]; also known as infantile Bartter syndrome with sensorineural deafness. BS refers to a group of autosomal recessive disorders characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BS4A is associated with sensorineural deafness. SEQUENCE CAUTION: Sequence=BC069510; Type=Frameshift; Positions=Several; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BSND";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8WZ55
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
