| CLCNKB | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CLCNKB, CLCKB, ClC-K2, ClC-Kb, chloride voltage-gated channel Kb | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 602023; MGI: 1329026; HomoloGene: 65; GeneCards: CLCNKB; OMA: CLCNKB - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Chloride channel Kb, also known as CLCNKB, is a protein which in humans is encoded by the CLCNKB gene. [5] [6]
Chloride channel Kb (CLCNKB) is a member of the CLC family of voltage-gated chloride channels, which comprises at least 9 mammalian chloride channels. [7] 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. [8] 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. [5]
- Chloride channel
- BSND, barttin, accessory subunit beta for this channel
- ^ a b c GRCh38: Ensembl release 89: ENSG00000184908 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033770 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: CLCNKB chloride channel Kb".
- ^ Saito-Ohara F, Uchida S, Takeuchi Y, Sasaki S, Hayashi A, Marumo F, Ikeuchi T (September 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". Genomics. 36 (2): 372–4. doi: 10.1006/geno.1996.0479. PMID 8812470.
- ^ Jentsch TJ, Günther W (February 1997). "Chloride channels: an emerging molecular picture". BioEssays. 19 (2): 117–26. doi: 10.1002/bies.950190206. PMID 9046241. S2CID 19904492.
- ^ Krämer BK, Bergler T, Stoelcker B, Waldegger S (January 2008). "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. doi: 10.1038/ncpneph0689. PMID 18094726. S2CID 25570342.
- 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. Bibcode: 1994PNAS...91.6943K. doi: 10.1073/pnas.91.15.6943. PMC 44314. 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. doi: 10.1038/ki.1995.439. 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. S2CID 10914641.
- 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. doi: 10.1681/ASN.V1181449. 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. doi: 10.1203/00006450-200012000-00009. 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. Bibcode: 2001Natur.414..558E. doi: 10.1038/35107099. PMID 11734858. S2CID 4407807.
- 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. doi: 10.1093/ndt/17.3.521. 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. Bibcode: 2002PNAS...9916899M. doi: 10.1073/pnas.242603899. PMC 139241. 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: 10.1097/00001756-200308260-00006. PMID 14502078. S2CID 32639843.
- 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. S2CID 30018159.
- 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. doi: 10.1097/01.hjh.0000174300.73992.cc. PMID 16003175. S2CID 8317422.
- 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. PMC 1356129. 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 (inactive 2024-07-17).
PMID
16391491.
S2CID
19494002.
{{ cite journal}}: CS1 maint: DOI inactive as of July 2024 ( link) - 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. Bibcode: 2006PNAS..10311411S. doi: 10.1073/pnas.0601631103. PMC 1544099. PMID 16849430.
- CLCNKB+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human CLCNKB genome location and CLCNKB gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 | This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it. |
| CLCNKB | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CLCNKB, CLCKB, ClC-K2, ClC-Kb, chloride voltage-gated channel Kb | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 602023; MGI: 1329026; HomoloGene: 65; GeneCards: CLCNKB; OMA: CLCNKB - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Chloride channel Kb, also known as CLCNKB, is a protein which in humans is encoded by the CLCNKB gene. [5] [6]
Chloride channel Kb (CLCNKB) is a member of the CLC family of voltage-gated chloride channels, which comprises at least 9 mammalian chloride channels. [7] 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. [8] 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. [5]
- Chloride channel
- BSND, barttin, accessory subunit beta for this channel
- ^ a b c GRCh38: Ensembl release 89: ENSG00000184908 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033770 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: CLCNKB chloride channel Kb".
- ^ Saito-Ohara F, Uchida S, Takeuchi Y, Sasaki S, Hayashi A, Marumo F, Ikeuchi T (September 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". Genomics. 36 (2): 372–4. doi: 10.1006/geno.1996.0479. PMID 8812470.
- ^ Jentsch TJ, Günther W (February 1997). "Chloride channels: an emerging molecular picture". BioEssays. 19 (2): 117–26. doi: 10.1002/bies.950190206. PMID 9046241. S2CID 19904492.
- ^ Krämer BK, Bergler T, Stoelcker B, Waldegger S (January 2008). "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. doi: 10.1038/ncpneph0689. PMID 18094726. S2CID 25570342.
- 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. Bibcode: 1994PNAS...91.6943K. doi: 10.1073/pnas.91.15.6943. PMC 44314. 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. doi: 10.1038/ki.1995.439. 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. S2CID 10914641.
- 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. doi: 10.1681/ASN.V1181449. 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. doi: 10.1203/00006450-200012000-00009. 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. Bibcode: 2001Natur.414..558E. doi: 10.1038/35107099. PMID 11734858. S2CID 4407807.
- 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. doi: 10.1093/ndt/17.3.521. 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. Bibcode: 2002PNAS...9916899M. doi: 10.1073/pnas.242603899. PMC 139241. 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: 10.1097/00001756-200308260-00006. PMID 14502078. S2CID 32639843.
- 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. S2CID 30018159.
- 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. doi: 10.1097/01.hjh.0000174300.73992.cc. PMID 16003175. S2CID 8317422.
- 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. PMC 1356129. 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 (inactive 2024-07-17).
PMID
16391491.
S2CID
19494002.
{{ cite journal}}: CS1 maint: DOI inactive as of July 2024 ( link) - 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. Bibcode: 2006PNAS..10311411S. doi: 10.1073/pnas.0601631103. PMC 1544099. PMID 16849430.
- CLCNKB+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human CLCNKB genome location and CLCNKB gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
|
| This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it. |