BSND

Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.^[5]

BSND
Identifiers
Aliases	BSND, BART, DFNB73, barttin CLCNK type accessory beta subunit, barttin CLCNK type accessory subunit beta
External IDs	OMIM: 606412; MGI: 2153465; HomoloGene: 14291; GeneCards: BSND; OMA:BSND - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p32.3 Start 54,998,933 bp[1] End 55,017,172 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 C7 Start 106,340,653 bp[2] End 106,349,480 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in renal medulla human kidney mucosa of nose gonad thigh muscle of thigh olfactory zone of nasal mucosa mouth blood salivary gland Top expressed in right kidney embryo thin ascending limb of loop of Henle outer renal medulla human kidney stria vascularis inner stripe of outer renal medulla embryo parotid gland vestibular sensory epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function chloride channel regulator activity chloride channel activity voltage-gated chloride channel activity Cellular component cytoplasm integral component of membrane plasma membrane basolateral plasma membrane integral component of plasma membrane membrane protein-containing complex Biological process ion transmembrane transport chloride transport chloride transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7809 140475 Ensembl ENSG00000162399 ENSMUSG00000025418 UniProt Q8WZ55 Q8VIM4 RefSeq (mRNA) NM_057176 NM_080458 RefSeq (protein) NP_476517 NP_536706 Location (UCSC) Chr 1: 55 – 55.02 Mb Chr 4: 106.34 – 106.35 Mb PubMed search [3] [4]
Wikidata
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This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules in the kidney and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness.^[5]

BSND as a Diagnostic Marker

BSND is a key diagnostic marker in differentiating the chromophobe renal cell carcinoma (chRCC) from other types of RCC. chRCC is a type of kidney cancer that presents in the cell lining of the small tubules in the kidney.^[6] RNA-sequence data from The Cancer Genome Atlas revealed that BSND was one of three genes (alongside ATP6V1G3) with high RNA expression in chRCC. Strong, diffuse expression of BSND was observed in chRCC but not in clear cell RCC or papillary RCC. Additionally, BSND expression was found to correlate with lower DNA methylation near the transcription start site, indicating the presence of epigenetic regulation. This expression reveals BSND's potential to serve as a major immunohistochemical marker for distinguishing chRCC from other forms of RCC.^[7]

BSND immunohistochemistry is also pivotal in differentiating oncocytic and Warthin-like MECs in salivary gland neoplasms. Greater than 10% BSND positivity helps distinguish Warthin tumors from Warthin-like MECs and greater than 20% BSND positivity helps distinguish oncocytomas from oncocytic MECs.^[8]