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Gene Review

CLCNKB  -  chloride channel, voltage-sensitive Kb

Homo sapiens

Synonyms: CLCKB, Chloride channel Kb, Chloride channel protein ClC-Kb, ClC-K2, ClC-Kb, ...
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Disease relevance of CLCNKB


High impact information on CLCNKB


Chemical compound and disease context of CLCNKB


Biological context of CLCNKB

  • Modulation of ClC-Kb chloride channel activity by polymorphic variations of the CLCNKB gene, thus, could form a molecular basis for salt sensitivity of blood pressure regulation [10].
  • CONCLUSION: Our data fail to support previous association findings for TNFRSF1B and CLCNKB at the chromosome 1p36 locus implicated in hypertension [1].
  • CONCLUSIONS: Our findings demonstrate intrafamilial heterogeneity, namely the presence of GS and CBS phenotypes, in a kindred with the CLCNKB R438H mutation [11].
  • Mutation analysis by direct sequencing revealed a novel homozygous missense mutation, arginine 438 to histidine (R438H), in exon 13 of CLCNKB in all patients [11].
  • CONCLUSIONS: The present report confirms a weak genotype-phenotype correlation in patients with CLCNKB mutations and supports the founder effect of the A204T mutation in Spain. In our country, the genetic diagnosis of adult patients with hereditary hypokalaemic tubulopathies should include a screening of A204T mutation in the CLCNKB gene [2].

Anatomical context of CLCNKB

  • The widespread expression of both ClC-K isoforms in the cochlea may help to explain the symptoms of Bartter's syndrome Type III, a mutation in the hClC-Kb gene (human homologue of ClC-K2), which results in renal salt wasting without deafness [12].

Associations of CLCNKB with chemical compounds


Regulatory relationships of CLCNKB


Other interactions of CLCNKB

  • These were genotyped for TNFRSF1B variants T-1710A upstream, A257G in exon 2, a CA-repeat polymorphism in intron 4, E232K and M196R in exon 6, and T1668G and T1690C in the 3'-untranslated region, and the T481S variant of CLCNKB [1].
  • RECENT FINDINGS: Hypercalciuria is discussed relative to mutations in the renal chloride genes CLCN5 and CLCNKB, WNK kinases, ATPB61, and NPT2 [17].
  • Linkage analysis in affected patients excluded the TSC gene, SLC12A3, as the mutated gene, but demonstrated linkage to the Cl- channel gene, CLCNKB, on chromosome 1p36 [11].
  • Recently, 3 functional polymorphisms, G(-930)A in CYBA, T481S in CLCNKB, and E65K in KCNMB1, were reported to be associated with blood pressure (BP) status and the aim of this study was to confirm those findings using a large cohort representing the general Japanese population [18].
  • Importantly, there appears to be a phenotypic difference between subjects with Bartter's syndrome due to CLCKB abnormalities and those with NKCC2 or ROMK1 mutations [19].

Analytical, diagnostic and therapeutic context of CLCNKB


  1. No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36. Speirs, H.J., Wang, W.Y., Benjafield, A.V., Morris, B.J. J. Hypertens. (2005) [Pubmed]
  2. A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age. Gorgojo, J.J., Donnay, S., Jeck, N., Konrad, M. Horm. Res. (2006) [Pubmed]
  3. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. Konrad, M., Vollmer, M., Lemmink, H.H., van den Heuvel, L.P., Jeck, N., Vargas-Poussou, R., Lakings, A., Ruf, R., Deschênes, G., Antignac, C., Guay-Woodford, L., Knoers, N.V., Seyberth, H.W., Feldmann, D., Hildebrandt, F. J. Am. Soc. Nephrol. (2000) [Pubmed]
  4. Messenger RNA expression ratios among four genes predict subtypes of renal cell carcinoma and distinguish oncocytoma from carcinoma. Chen, Y.T., Tu, J.J., Kao, J., Zhou, X.K., Mazumdar, M. Clin. Cancer Res. (2005) [Pubmed]
  5. Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. Shaer, A.J. Am. J. Med. Sci. (2001) [Pubmed]
  6. Barttin modulates trafficking and function of ClC-K channels. Scholl, U., Hebeisen, S., Janssen, A.G., Müller-Newen, G., Alekov, A., Fahlke, C. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  7. Two highly homologous members of the ClC chloride channel family in both rat and human kidney. Kieferle, S., Fong, P., Bens, M., Vandewalle, A., Jentsch, T.J. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  8. Functional and structural analysis of ClC-K chloride channels involved in renal disease. Waldegger, S., Jentsch, T.J. J. Biol. Chem. (2000) [Pubmed]
  9. Molecular Analysis of the CLCNKB Gene in Japanese Patients with Classic Bartter Syndrome. Tajima, T., Nawate, M., Takahashi, Y., Mizoguchi, Y., Sugihara, S., Yoshimoto, M., Murakami, M., Adachi, M., Tachibana, K., Mochizuki, H., Fujieda, K. Endocr. J. (2006) [Pubmed]
  10. A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity. Jeck, N., Waldegger, P., Doroszewicz, J., Seyberth, H., Waldegger, S. Kidney Int. (2004) [Pubmed]
  11. A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Zelikovic, I., Szargel, R., Hawash, A., Labay, V., Hatib, I., Cohen, N., Nakhoul, F. Kidney Int. (2003) [Pubmed]
  12. Expression of CLC-K chloride channels in the rat cochlea. Qu, C., Liang, F., Hu, W., Shen, Z., Spicer, S.S., Schulte, B.A. Hear. Res. (2006) [Pubmed]
  13. Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization. Saito-Ohara, F., Uchida, S., Takeuchi, Y., Sasaki, S., Hayashi, A., Marumo, F., Ikeuchi, T. Genomics (1996) [Pubmed]
  14. Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome. Lin, S.H., Shiang, J.C., Huang, C.C., Yang, S.S., Hsu, Y.J., Cheng, C.J. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  15. The molecular genetic approach to "Bartter's syndrome". Károlyi, L., Koch, M.C., Grzeschik, K.H., Seyberth, H.W. J. Mol. Med. (1998) [Pubmed]
  16. A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. Rodríguez-Soriano, J., Vallo, A., Pérez de Nanclares, G., Bilbao, J.R., Castaño, L. Pediatr. Nephrol. (2005) [Pubmed]
  17. The molecular basis of kidney stones. Langman, C.B. Curr. Opin. Pediatr. (2004) [Pubmed]
  18. Association analysis between hypertension and CYBA, CLCNKB, and KCNMB1 functional polymorphisms in the Japanese population--the Suita Study. Kokubo, Y., Iwai, N., Tago, N., Inamoto, N., Okayama, A., Yamawaki, H., Naraba, H., Tomoike, H. Circ. J. (2005) [Pubmed]
  19. Straightening out the renal tubule: advances in the molecular basis of the inherited tubulopathies. Pearce, S.H. QJM : monthly journal of the Association of Physicians. (1998) [Pubmed]
  20. The functional variant of the CLC-Kb channel T481S is not associated with blood pressure or hypertension in Swedes. Fava, C., Montagnana, M., Almgren, P., Rosberg, L., Guidi, G.C., Berglund, G., Melander, O. J. Hypertens. (2007) [Pubmed]
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