BSND (barttin CLCNK type accessory subunit beta)

2018-11-01  

Identity

HGNC
LOCATION
1p32.3
LOCUSID
ALIAS
BART,DFNB73

Other Information

Locus ID:

NCBI: 7809
MIM: 606412
HGNC: 16512
Ensembl: ENSG00000162399

Variants:

dbSNP: 7809
ClinVar: 7809
TCGA: ENSG00000162399
COSMIC: BSND

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162399ENST00000651561Q8WZ55
ENSG00000162399ENST00000651561Q5VU50

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA26553CLCNKAGenePathwayassociated23788015
PA26554CLCNKBGenePathwayassociated23788015

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
168494302006Barttin modulates trafficking and function of ClC-K channels.49
190960862009Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.31
196466792009Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.28
196466792009Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.28
180947262008Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.27
187761222009Disease-causing dysfunctions of barttin in Bartter syndrome type IV.25
154961632004Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases.21
127616272003Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene.20
175102122007Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension.20

Citation

Dessen P

BSND (barttin CLCNK type accessory subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57710/bsnd-(barttin-clcnk-type-accessory-subunit-beta)