CLCNKB explained

Chloride channel Kb, also known as CLCNKB, is a protein which in humans is encoded by the CLCNKB gene.^{[1] [2]}

Chloride channel Kb (CLCNKB) is a member of the CLC family of voltage-gated chloride channels, which comprises at least 9 mammalian chloride channels.^[3] Each is believed to have 12 transmembrane domains and intracellular N and C termini. Mutations in CLCNKB result in the autosomal recessive Type III Bartter syndrome.^[4] CLCNKA and CLCNKB are closely related (94% sequence identity), tightly linked (separated by 11 kb of genomic sequence) and are both expressed in mammalian kidney.

See also

• Chloride channel
• BSND, barttin, accessory subunit beta for this channel

Further reading

• Kieferle S, Fong P, Bens M . Two highly homologous members of the ClC chloride channel family in both rat and human kidney . Proc. Natl. Acad. Sci. U.S.A. . 91 . 15 . 6943–7 . 1994 . 8041726 . 10.1073/pnas.91.15.6943 . 44314 . 1994PNAS...91.6943K . etal. free .
• Takeuchi Y, Uchida S, Marumo F, Sasaki S . Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney . Kidney Int. . 48 . 5 . 1497–503 . 1996 . 8544406 . 10.1038/ki.1995.439 . free .
• Saito-Ohara F, Uchida S, Takeuchi Y . Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization . Genomics . 36 . 2 . 372–4 . 1997 . 8812470 . 10.1006/geno.1996.0479 . etal.
• Simon DB, Bindra RS, Mansfield TA . Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III . Nat. Genet. . 17 . 2 . 171–8 . 1997 . 9326936 . 10.1038/ng1097-171 . 10914641 . etal.
• Konrad M, Vollmer M, Lemmink HH . Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome . J. Am. Soc. Nephrol. . 11 . 8 . 1449–59 . 2000 . 10.1681/ASN.V1181449 . 10906158 . etal. free .
• Jeck N, Konrad M, Peters M . Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype . Pediatr. Res. . 48 . 6 . 754–8 . 2001 . 11102542 . 10.1203/00006450-200012000-00009 . Bonzel . etal. free .
• Estévez R, Boettger T, Stein V . Barttin is a Cl⁻ channel beta-subunit crucial for renal Cl⁻ reabsorption and inner ear K⁺ secretion . Nature . 414 . 6863 . 558–61 . 2002 . 11734858 . 10.1038/35107099 . 2001Natur.414..558E . 4407807 . etal.
• Colussi G, De Ferrari ME, Tedeschi S . Bartter syndrome type 3: an unusual cause of nephrolithiasis . Nephrol. Dial. Transplant. . 17 . 3 . 521–3 . 2002 . 11865110 . 10.1093/ndt/17.3.521 . etal. free .
• Zelikovic I, Szargel R, Hawash A . A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes . Kidney Int. . 63 . 1 . 24–32 . 2004 . 12472765 . 10.1046/j.1523-1755.2003.00730.x . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Maehara H, Okamura HO, Kobayashi K . Expression of CLC-KB gene promoter in the mouse cochlea . NeuroReport . 14 . 12 . 1571–3 . 2003 . 14502078 . 10.1097/00001756-200308260-00006. 32639843 . etal.
• Jeck N, Waldegger P, Doroszewicz J . A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity . Kidney Int. . 65 . 1 . 190–7 . 2004 . 14675050 . 10.1111/j.1523-1755.2004.00363.x . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Schlingmann KP, Konrad M, Jeck N . Salt wasting and deafness resulting from mutations in two chloride channels . N. Engl. J. Med. . 350 . 13 . 1314–9 . 2004 . 15044642 . 10.1056/NEJMoa032843 . 30018159 . etal. free .
• Jeck N, Waldegger S, Lampert A . Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension . Hypertension . 43 . 6 . 1175–81 . 2004 . 15148291 . 10.1161/01.HYP.0000129824.12959.f0 . etal. free .
• Fukuyama S, Hiramatsu M, Akagi M . Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria . J. Clin. Endocrinol. Metab. . 89 . 11 . 5847–50 . 2004 . 15531551 . 10.1210/jc.2004-0775 . etal. free .
• Speirs HJ, Wang WY, Benjafield AV, Morris BJ . No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36 . J. Hypertens. . 23 . 8 . 1491–6 . 2005 . 16003175 . 10.1097/01.hjh.0000174300.73992.cc . 8317422 .
• Kimura K, Wakamatsu A, Suzuki Y . Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . etal.
• Gorgojo JJ, Donnay S, Jeck N, Konrad M . A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age . Horm. Res. . 65 . 2 . 62–8 . 2006 . 16391491 . 10.1159/000090601 . 2024-07-17 . 19494002 .
• Scholl U, Hebeisen S, Janssen AG . Barttin modulates trafficking and function of ClC-K channels . Proc. Natl. Acad. Sci. U.S.A. . 103 . 30 . 11411–6 . 2006 . 16849430 . 10.1073/pnas.0601631103 . 1544099 . 2006PNAS..10311411S . etal. free .

Notes and References

1. Web site: Entrez Gene: CLCNKB chloride channel Kb.
2. Saito-Ohara F, Uchida S, Takeuchi Y, Sasaki S, Hayashi A, Marumo F, Ikeuchi T . Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization . Genomics . 36 . 2 . 372–4 . September 1996 . 8812470 . 10.1006/geno.1996.0479 .
3. Jentsch TJ, Günther W . Chloride channels: an emerging molecular picture . BioEssays . 19 . 2 . 117–26 . February 1997 . 9046241 . 10.1002/bies.950190206 . 19904492 .
4. Krämer BK, Bergler T, Stoelcker B, Waldegger S . Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance . Nat Clin Pract Nephrol . 4 . 1 . 38–46 . January 2008 . 18094726 . 10.1038/ncpneph0689 . 25570342 .