BSND

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)
End	55,017,172 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	106,349,480 bp
RNA expression pattern
	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
	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
	7809
	140475
	ENSG00000162399
	ENSMUSG00000025418
	Q8WZ55
	Q8VIM4
	NM_057176
	NM_080458
	NP_476517
	NP_536706
	Wikidata
View/Edit Human	View/Edit Mouse

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

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.