BSND |
- 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:
- Bartter disease type 4A Monarch
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)