CLCNKB
| Chloride channel Kb | |||||||||||
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| Identifiers | |||||||||||
| Symbols | CLCNKB ; CLCKB; ClC-K2; MGC24087; hClC-Kb | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 73873 | ||||||||||
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| RNA expression pattern | |||||||||||
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| File:PBB GE CLCNKB 207047 s at tn.png | |||||||||||
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| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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Chloride channel Kb, also known as CLCNKB, is a human gene.[1]
Chloride channel Kb (CLCNKB) is a member of the CLC family of voltage-gated chloride channels, which comprises at least 9 mammalian chloride channels. 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. 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.[1]
References
Further reading
- Kieferle S, Fong P, Bens M; et al. (1994). "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. PMID 8041726.
- Takeuchi Y, Uchida S, Marumo F, Sasaki S (1996). "Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney". Kidney Int. 48 (5): 1497–503. PMID 8544406.
- Saito-Ohara F, Uchida S, Takeuchi Y; et al. (1997). "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. doi:10.1006/geno.1996.0479. PMID 8812470.
- Simon DB, Bindra RS, Mansfield TA; et al. (1997). "Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III". Nat. Genet. 17 (2): 171–8. doi:10.1038/ng1097-171. PMID 9326936.
- Konrad M, Vollmer M, Lemmink HH; et al. (2000). "Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome". J. Am. Soc. Nephrol. 11 (8): 1449–59. PMID 10906158.
- Jeck N, Konrad M, Peters M; et al. (2001). "Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype". Pediatr. Res. 48 (6): 754–8. PMID 11102542.
- Estévez R, Boettger T, Stein V; et al. (2002). "Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion". Nature. 414 (6863): 558–61. doi:10.1038/35107099. PMID 11734858.
- Colussi G, De Ferrari ME, Tedeschi S; et al. (2002). "Bartter syndrome type 3: an unusual cause of nephrolithiasis". Nephrol. Dial. Transplant. 17 (3): 521–3. PMID 11865110.
- Zelikovic I, Szargel R, Hawash A; et al. (2004). "A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes". Kidney Int. 63 (1): 24–32. doi:10.1046/j.1523-1755.2003.00730.x. PMID 12472765.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
- Maehara H, Okamura HO, Kobayashi K; et al. (2003). "Expression of CLC-KB gene promoter in the mouse cochlea". Neuroreport. 14 (12): 1571–3. doi:10.1097/01.wnr.0000087905.78892.55. PMID 14502078.
- Jeck N, Waldegger P, Doroszewicz J; et al. (2004). "A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity". Kidney Int. 65 (1): 190–7. doi:10.1111/j.1523-1755.2004.00363.x. PMID 14675050.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Schlingmann KP, Konrad M, Jeck N; et al. (2004). "Salt wasting and deafness resulting from mutations in two chloride channels". N. Engl. J. Med. 350 (13): 1314–9. doi:10.1056/NEJMoa032843. PMID 15044642.
- Jeck N, Waldegger S, Lampert A; et al. (2004). "Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension". Hypertension. 43 (6): 1175–81. doi:10.1161/01.HYP.0000129824.12959.f0. PMID 15148291.
- Fukuyama S, Hiramatsu M, Akagi M; et al. (2004). "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. doi:10.1210/jc.2004-0775. PMID 15531551.
- Speirs HJ, Wang WY, Benjafield AV, Morris BJ (2005). "No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36". J. Hypertens. 23 (8): 1491–6. PMID 16003175.
- Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
- Gorgojo JJ, Donnay S, Jeck N, Konrad M (2006). "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. doi:10.1159/000090601. PMID 16391491.
- Scholl U, Hebeisen S, Janssen AG; et al. (2006). "Barttin modulates trafficking and function of ClC-K channels". Proc. Natl. Acad. Sci. U.S.A. 103 (30): 11411–6. doi:10.1073/pnas.0601631103. PMID 16849430.
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