Property Summary

NCBI Gene PubMed Count 29
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 2.3e-05

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.
18843510 Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.
18776122 Bartter syndrome type IV can be caused by various derangements in the function of barttin, likely contributing to the diversity of observed phenotypes.
18094726 Disruption of the gene encoding Barttin, BSND, results in a 'double knockout' of the functions of both ClCKA and ClCKB, manifesting as Bartter syndrome type IV with sensorineural deafness and an especially severe salt-losing phenotype.
17954364 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17954364 BSND-V43I, a common variant conferring partial loss of function, exhibits significant deviation from equilibrium in the Ghanaian normotensive control population
17652939 Observational study of genotype prevalence. (HuGE Navigator)
17510212 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16849430 Barttin modulates trafficking and function of ClC-K1 and ClC-Kb channels
16773427 Barttin mutations is associated with antenatal Bartter syndrome with sensorineural deafness
16572343 A missense, point mutation on gene BSND exon 1, affects the function of the CLC-K/barttin chloride channel and caused Bartter syndrome with sensorineural deafness in two families from Spain.
15496163 ClC-Ka/barttin channels are regulated by SGK1 and SGK3, which may thus participate in the regulation of transport in kidney and inner ear.
12761627 The mislocalization of CLC-K2 was identified as the molecular pathogenesis of Bartter syndrome by mutant barttins.

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.
19096086 2009 Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
18843510 2009 Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.
18776122 2009 Disease-causing dysfunctions of barttin in Bartter syndrome type IV.
18094726 2008 Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.
17954364 2007 Functional BSND variants in essential hypertension.
17652939 2008 Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption.
17510212 2007 Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension.
16849430 2006 Barttin modulates trafficking and function of ClC-K channels.
16773427 2006 Barttin mutations in antenatal Bartter syndrome with sensorineural deafness.
16572343 2006 Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.
15496163 2004 Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12761627 2003 Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene.
12574213 2003 Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12111250 2002 Barttin increases surface expression and changes current properties of ClC-K channels.
11734858 2001 Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.
11687798 2001 Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.