Entity Details

Primary name BSND
Entity type gene
Source Source Link

Details

PrimaryID7809
RefseqGeneNG_008965
SymbolBSND
Namebarttin CLCNK type accessory subunit beta
Chromosome1
Location1p32.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-02-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsBSND_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005254 chloride channel activity
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006821 chloride transport
GO:0016323 basolateral plasma membrane
GO:0017081 chloride channel regulator activity
GO:0032991 protein-containing complex
GO:0034220 ion transmembrane transport

Diseases

Show/Hide Table
Disease IDSourceNameDescription
602522 OMIMBartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A)A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4A is associated with sensorineural deafness. The disease is caused by variants affecting the gene represented in this entry.