full name
barttin CLCNK type accessory beta subunit

synonyms
BART, DFNB73, BSND, ENSG00000162399

HGNC
HGNC:16512

Entrez Gene
Gene:7809

ENSEMBL
ENSG00000162399

location
chr: 1
start: 55464617
stop: 55474465
strand: +

OMIM
OMIM:606412: BSND (Autosomal recessive inheritance,Heterogeneous)
OMIM:602522: Bartter syndrome, type 4a
OMIM:602522: Sensorineural deafness with mild renal dysfunction

transcripts
NM_057176.2

pathways
Ion channel transport [NCBI:1269950] [REACTOME:R-HSA-983712] [PUBMED:15071553]
Stimuli-sensing channels [NCBI:1269953] [REACTOME:R-HSA-2672351] [PUBMED:15728426] [PUBMED:16460286] [PUBMED:12907679] [PUBMED:18391176] [PUBMED:19278523] [PUBMED:11904445] [PUBMED:22934072] [PUBMED:20807551] [PUBMED:19783045] [PUBMED:16219661] [PUBMED:21932071] [PUBMED:22277752]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]