Property Summary

NCBI Gene PubMed Count 29
Grant Count 70
R01 Count 44
Funding $16,046,196.24
PubMed Score 42.84
PubTator Score 35.46

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.087 0.000

Synonym

Accession Q8WZ55 Q6NT28
Symbols BART
DFNB73

Gene

Gene RIF (22)

PMID Text
26453302 results demonstrate that the carboxyl terminus of hClC-Kb is not part of the binding site for barttin, but functionally modifies the interplay with barttin.
26063802 These results demonstrate that mutations in a cluster of hydrophobic residues within transmembrane domain 1 affect barttin-CLC-K interaction and impair gating modification by the accessory subunit
26013830 R8W and G47R, two naturally occurring barttin mutations identified in patients with Bartter syndrome type IV, reduce barttin palmitoylation and CLC-K/barttin channel activity.
21541222 BSND, was first modeled, and then, the identified mutation was further analyzed by using different bioinformatics tools.
21269598 Case Report: G47R mutation decreases barttin expression, resulting CIC-K location being changed from the basement membrane to the cytoplasm in the tubule and might have varying effects on renal function associated with factors other than this gene.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19646679 The molecular basis of DFNB73 autosomal recessive deafness is reported.
19646679 Mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
19096086 In a large cohort of ante/neonatal Bartter syndrome, deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively.
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AA Sequence

MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKITFVPADSDFQ      1 - 70
GILSPKAMGLLENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMKVMSYSEDHRSLLAPEMGQPK     71 - 140
LGTSDGGEGGPGDVQAWMEAAVVIHKGSDESEGERRLTQSWPGPLACPQGPAPLASFQDDLDMDSSEGSS    141 - 210
PNASPHDREEACSPQQEPQGCRCPLDRFQDFALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEA    211 - 280
SDTGGEEPEKEEEDLYYGLPDGAGDLLPDKELGFEPDTQG                                  281 - 320
//

Text Mined References (28)

PMID Year Title
26453302 2015 Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.
26063802 2015 Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions.
26013830 2015 Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional.
25085501 2014 Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis.
23110775 2014 Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.
21541222 2011 Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis.
21269598 2011 Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19646679 2009 Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
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