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
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 kidney renal medulla thigh mouth blood salivary gland minor salivary gland pituitary gland anterior pituitary Top expressed in thin ascending limb of loop of Henle outer renal medulla kidney stria vascularis inner stripe of outer renal medulla parotid gland renal cortex submandibular gland olfactory epithelium cortical collecting duct 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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Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.^[5]

This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness.^[5]