Property Summary

NCBI Gene PubMed Count 24
PubMed Score 28.54
PubTator Score 23.79

Knowledge Summary

Patent (825)

Expression

  Differential Expression (2)

Disease log2 FC p
lung carcinoma 1.700 1.1e-29
psoriasis -1.400 1.2e-12

Protein-protein Interaction (1)

Gene RIF (16)

PMID Text
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.
25919862 Single loci of tag Single Nucleotide Polymorphisms of CLCNKA_B are not enough to increase the Essential Hypertension susceptibility, the combination of CLCNKA SNP, salt, marine products, meat, edible oil consumption is associated with elevated risk.
24863058 HEK293 cells the potentiating effect of niflumic acid (NFA) on CLC-Ka/barttin and CLC-Kb/barttin channels seems to be absent while the blocking efficacy of niflumic acid and benzofuran derivatives observed in oocytes is preserved
23850580 following variables were significantly associated with an estimated glomerular filtration rate: age, type 2 diabetes, total cholesterol, LDL-cholesterol, and the CLCNKA GG genotype
21248228 The variant CLCNKA risk allele, telegraphed by linked variants in the adjacent HSPB7 gene, uncovers a previously overlooked genetic mechanism affecting the cardio-renal axis.
20805576 Identify a protein region that is involved in calcium binding and that is likely undergoing conformational changes underlying the complex gating of CLC-K channels.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18648499 ClC-Ka and ClC-Kb differ in how conformational changes are translated to the extracellular domain, despite the fact that the cytoplasmic domains share the same quaternary structure
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.
17652939 Observational study of genotype prevalence. (HuGE Navigator)
17562318 The structure of the cytoplasmic domain of CLCNKA reveals a conserved interaction interface.
17510212 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17510212 CLCNKA genetic variants may have roles in salt-sensitive hypertension
16849430 Barttin modulates trafficking and function of ClC-K1 and ClC-Kb channels
15044642 Combined impairment of ClC-Ka and ClC-Kb results in phenotype that mimics neonatal Barrter's syndrome with deafness

AA Sequence

MEELVGLREGFSGDPVTLQELWGPCPHIRRAIQGGLEWLKQKVFRLGEDWYFLMTLGVLMALVSYAMNFA      1 - 70
IGCVVRAHQWLYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPELKTMLAGVILEDYLD     71 - 140
IKNFGAKVVGLSCTLATGSTLFLGKVGPFVHLSVMIAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVA    141 - 210
TVFAAPFSGVLFSIEVMSSHFSVRDYWRGFFAATCGAFIFRLLAVFNSEQETITSLYKTSFRVDVPFDLP    211 - 280
EIFFFVALGGICGVLSCAYLFCQRTFLSFIKTNRYSSKLLATSKPVYSALATLLLASITYPPGVGHFLAS    281 - 350
RLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIP    351 - 420
MPAGYFMPIFILGAAIGRLLGEALAVAFPEGIVTGGVTNPIMPGGYALAGAAAFSGAVTHTISTALLAFE    421 - 490
LTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTIIVKKLPYLPRILGRNIGSHHVRVEHFMNHSITTLAK    491 - 560
DTPLEEVVKVVTSTDVTEYPLVESTESQILVGIVQRAQLVQALQAEPPSRAPGHQQCLQDILARGCPTEP    561 - 630
VTLTLFSETTLHQAQNLFKLLNLQSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK                 631 - 687
//

Text Mined References (28)

PMID Year Title
26013830 2015 Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional.
25919862 2015 Associations between CLCNKA_B tag SNPs with essential hypertension and interactions between genetic and environmental factors in an island population in China.
24863058 2014 Targeting kidney CLC-K channels: pharmacological profile in a human cell line versus Xenopus oocytes.
23850580 2013 A CLCNKA polymorphism (rs10927887; p.Arg83Gly) previously linked to heart failure is associated with the estimated glomerular filtration rate in the RENASTUR cohort.
23148261 2012 Dissecting a regulatory calcium-binding site of CLC-K kidney chloride channels.
21248228 2011 Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation.
20805576 2010 A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels.
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.
18648499 2008 A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane.
18310267 2008 Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.
18094726 2008 Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.
17652939 2008 Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption.
17562318 2007 The structure of the cytoplasmic domain of the chloride channel ClC-Ka reveals a conserved interaction interface.
17510212 2007 Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16849430 2006 Barttin modulates trafficking and function of ClC-K channels.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15044642 2004 Salt wasting and deafness resulting from mutations in two chloride channels.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11734858 2001 Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.
9046241 1997 Chloride channels: an emerging molecular picture.
8812470 1996 Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization.
8544406 1995 Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
8041726 1994 Two highly homologous members of the ClC chloride channel family in both rat and human kidney.