• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
BSND (HGNC:16512) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
barttin CLCNK type accessory subunit beta
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB73
Alias symbols
BART
%HI
78.77(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.78(Read more about gnomAD LOEUF score)
Cytoband
1p32.3
Genomic Coordinates
GRCh37/hg19: chr1:55464606-55482845 NCBI Ensembl UCSC
GRCh38/hg38: chr1:54998933-55017172 NCBI Ensembl UCSC
MANE Select Transcript
NM_057176.3 ENST00000651561.1 (Read more about MANE Select)
Function
Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter. {ECO:0000269|PubMed:11734858, ECO:0000269|PubMed:12111250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10371
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
05/17/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
This gene is associated with two recessively inherited conditions: Bartter syndrome type 4A and nonsyndromic hearing loss.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)