CLCNKB

CLCNKB
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
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p36.13 Start 16,040,252 bp [1] End 16,057,311 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 D3 Start 141,111,921 bp [2] End 141,126,035 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in renal medulla parotid gland sperm right lobe of thyroid gland left lobe of thyroid gland human kidney apex of heart oocyte cerebellar hemisphere right hemisphere of cerebellum Top expressed in right kidney distal tubule outer renal medulla human kidney connecting tubule Ascending limb of loop of Henle stria vascularis inner renal medulla inner stripe of outer renal medulla saccule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding voltage-gated ion channel activity chloride channel activity voltage-gated chloride channel activity Cellular component integral component of membrane plasma membrane integral component of plasma membrane chloride channel complex membrane Biological process ion transmembrane transport chloride transport excretion regulation of ion transmembrane transport ion transport transmembrane transport chloride transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1188 12733 Ensembl ENSG00000184908 ENSMUSG00000033770 UniProt P51801 Q9WUB7 RefSeq (mRNA) NM_000085 NM_001165945 NM_001146307 NM_024412 RefSeq (protein) NP_000076 NP_001159417 NP_001139779 NP_077723 Location (UCSC) Chr 1: 16.04 – 16.06 Mb Chr 4: 141.11 – 141.13 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

See also

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

References

1. GRCh38: Ensembl release 89: ENSG00000184908 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000033770 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: CLCNKB chloride channel Kb".
6. 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.
7. 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.
8. 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.

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. 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. PMID   16391491. S2CID   19494002.
• 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.

External links

• 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.