Property Summary

NCBI Gene PubMed Count 51
Grant Count 6
Funding $343,303.5
PubMed Score 92.69
PubTator Score 97.49

Knowledge Summary

Patent (2,776)

Expression

  Differential Expression (2)

Disease log2 FC p
pituitary cancer 1.400 0.002
psoriasis -1.200 0.000

Gene RIF (44)

PMID Text
26770037 Five patients had 1 or more mutations in CLCNKB, of whom 3 had homozygous mutations and 2 had single heterozygous mutations and only in CLCNKB had hypocalciuria.
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.
25923035 Case Report: 2 mutations in the CLCNKB gene, leading to a molecular diagnosis of Bartter syndrome type III in case of sudden infant death.
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
24271511 we report here for the first time that ClC-Kb disease-causing mutations located around the selectivity filter can result in both reduced surface expression and hyperactivity in heterologous expression systems
23703872 study investigated the functional consequences of seven mutations; four mutants carried no current whereas others displayed a 30-60 percent reduction in conductance as compared with wild-type ClC-Kb
23345488 This article presents the case of a patient with hypokalaemia caused by CLCNKB gene mutation hard to categorise as GS or BS type 3.
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AA Sequence

MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLA      1 - 70
VESVVRAHQWLYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLD     71 - 140
IKNFGAKVVGLSCTLACGSTLFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVA    141 - 210
TVFAAPFSGVLFSIEVMSSHFSVWDYWRGFFAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLP    211 - 280
EIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLLATSKPVYSALATLVLASITYPPSAGRFLAS    281 - 350
RLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIP    351 - 420
MPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTHTISTALLAFE    421 - 490
VTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAK    491 - 560
DMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQQCLQDILAAGCPTEP    561 - 630
VTLKLSPETSLHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK                 631 - 687
//

Text Mined References (53)

PMID Year Title
26770037 2016 Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.
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.
25923035 Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
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.
24271511 2014 CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels.
23703872 2013 Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression.
23345488 2013 Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation.
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