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{{Infobox_gene}}
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'''Chloride channel Kb''', also known as '''CLCNKB''', is a [[protein]] which in humans is encoded by the ''CLCNKB'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CLCNKB chloride channel Kb| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1188| accessdate = }}</ref><ref name="pmid8812470">{{cite journal | vauthors = Saito-Ohara F, Uchida S, Takeuchi Y, Sasaki S, Hayashi A, Marumo F, Ikeuchi T | title = Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization | journal = Genomics | volume = 36 | issue = 2 | pages = 372–4 |date=September 1996 | pmid = 8812470 | doi = 10.1006/geno.1996.0479 | url = }}</ref>
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Chloride channel Kb (CLCNKB) is a member of the CLC family of [[voltage-gated ion channel|voltage-gated]] [[chloride channel]]s, which comprises at least 9 mammalian chloride channels.<ref name="pmid9046241">{{cite journal | vauthors = Jentsch TJ, Günther W | title = Chloride channels: an emerging molecular picture | journal = BioEssays | volume = 19 | issue = 2 | pages = 117–26 |date=February 1997 | pmid = 9046241 | doi = 10.1002/bies.950190206 | url = }}</ref> 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]].<ref name="pmid18094726">{{cite journal | vauthors = Krämer BK, Bergler T, Stoelcker B, Waldegger S | title = Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance | journal = Nat Clin Pract Nephrol | volume = 4 | issue = 1 | pages = 38–46 |date=January 2008 | pmid = 18094726 | doi = 10.1038/ncpneph0689 | url =  }}</ref>  [[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.<ref name="entrez" />
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Chloride channel Kb
| HGNCid = 2027
| Symbol = CLCNKB
| AltSymbols =; CLCKB; ClC-K2; MGC24087; hClC-Kb
| OMIM = 602023
| ECnumber = 
| Homologene = 73873
| MGIid = 1930643
| GeneAtlas_image1 = PBB_GE_CLCNKB_205985_x_at_tn.png
| GeneAtlas_image2 = PBB_GE_CLCNKB_207047_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005247 |text = voltage-gated chloride channel activity}} {{GNF_GO|id=GO:0031404 |text = chloride ion binding}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006821 |text = chloride transport}} {{GNF_GO|id=GO:0007588 |text = excretion}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1188
    | Hs_Ensembl = ENSG00000184908
    | Hs_RefseqProtein = NP_000076
    | Hs_RefseqmRNA = NM_000085
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 16242859
    | Hs_GenLoc_end = 16256390
    | Hs_Uniprot = P51801
    | Mm_EntrezGene = 56365
    | Mm_Ensembl = ENSMUSG00000006216
    | Mm_RefseqmRNA = NM_019701
    | Mm_RefseqProtein = NP_062675
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 140676436
    | Mm_GenLoc_end = 140688057
    | Mm_Uniprot = Q9WUB6
  }}
}}
'''Chloride channel Kb''', also known as '''CLCNKB''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CLCNKB chloride channel Kb| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1188| accessdate = }}</ref>


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==See also==
{{PBB_Summary
* [[Chloride channel]]
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: CLCNKB chloride channel Kb| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1188| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Kieferle S, Fong P, Bens M, ''et al.'' |title=Two highly homologous members of the ClC chloride channel family in both rat and human kidney. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 15 |pages= 6943-7 |year= 1994 |pmid= 8041726 |doi=  }}
*{{cite journal  | vauthors=Kieferle S, Fong P, Bens M |title=Two highly homologous members of the ClC chloride channel family in both rat and human kidney |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 15 |pages= 6943–7 |year= 1994 |pmid= 8041726 |doi=10.1073/pnas.91.15.6943 | pmc=44314  |display-authors=etal}}
*{{cite journal  | author=Takeuchi Y, Uchida S, Marumo F, Sasaki S |title=Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney. |journal=Kidney Int. |volume=48 |issue= 5 |pages= 1497-503 |year= 1996 |pmid= 8544406 |doi=  }}
*{{cite journal  | vauthors=Takeuchi Y, Uchida S, Marumo F, Sasaki S |title=Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney |journal=Kidney Int. |volume=48 |issue= 5 |pages= 1497–503 |year= 1996 |pmid= 8544406 |doi=10.1038/ki.1995.439 }}
*{{cite journal  | author=Saito-Ohara F, Uchida S, Takeuchi Y, ''et al.'' |title=Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization. |journal=Genomics |volume=36 |issue= 2 |pages= 372-4 |year= 1997 |pmid= 8812470 |doi= 10.1006/geno.1996.0479 }}
*{{cite journal  | vauthors=Saito-Ohara F, Uchida S, Takeuchi Y |title=Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization |journal=Genomics |volume=36 |issue= 2 |pages= 372–4 |year= 1997 |pmid= 8812470 |doi= 10.1006/geno.1996.0479 |display-authors=etal}}
*{{cite journal  | author=Simon DB, Bindra RS, Mansfield TA, ''et al.'' |title=Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. |journal=Nat. Genet. |volume=17 |issue= 2 |pages= 171-8 |year= 1997 |pmid= 9326936 |doi= 10.1038/ng1097-171 }}
*{{cite journal  | vauthors=Simon DB, Bindra RS, Mansfield TA |title=Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III |journal=Nat. Genet. |volume=17 |issue= 2 |pages= 171–8 |year= 1997 |pmid= 9326936 |doi= 10.1038/ng1097-171 |display-authors=etal}}
*{{cite journal  | author=Konrad M, Vollmer M, Lemmink HH, ''et al.'' |title=Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. |journal=J. Am. Soc. Nephrol. |volume=11 |issue= 8 |pages= 1449-59 |year= 2000 |pmid= 10906158 |doi=  }}
*{{cite journal  | vauthors=Konrad M, Vollmer M, Lemmink HH |title=Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome |journal=J. Am. Soc. Nephrol. |volume=11 |issue= 8 |pages= 1449–59 |year= 2000 |pmid= 10906158 |doi=  |display-authors=etal}}
*{{cite journal  | author=Jeck N, Konrad M, Peters M, ''et al.'' |title=Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. |journal=Pediatr. Res. |volume=48 |issue= 6 |pages= 754-8 |year= 2001 |pmid= 11102542 |doi=  }}
*{{cite journal  | vauthors=Jeck N, Konrad M, Peters M |title=Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype |journal=Pediatr. Res. |volume=48 |issue= 6 |pages= 754–8 |year= 2001 |pmid= 11102542 |doi=10.1203/00006450-200012000-00009  | last5=Bonzel |display-authors=etal}}
*{{cite journal  | author=Estévez R, Boettger T, Stein V, ''et al.'' |title=Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. |journal=Nature |volume=414 |issue= 6863 |pages= 558-61 |year= 2002 |pmid= 11734858 |doi= 10.1038/35107099 }}
*{{cite journal  | vauthors=Estévez R, Boettger T, Stein V |title=Barttin is a Cl<sup>−</sup> channel beta-subunit crucial for renal Cl<sup>−</sup> reabsorption and inner ear K<sup>+</sup> secretion |journal=Nature |volume=414 |issue= 6863 |pages= 558–61 |year= 2002 |pmid= 11734858 |doi= 10.1038/35107099 |display-authors=etal}}
*{{cite journal  | author=Colussi G, De Ferrari ME, Tedeschi S, ''et al.'' |title=Bartter syndrome type 3: an unusual cause of nephrolithiasis. |journal=Nephrol. Dial. Transplant. |volume=17 |issue= 3 |pages= 521-3 |year= 2002 |pmid= 11865110 |doi=  }}
*{{cite journal  | vauthors=Colussi G, De Ferrari ME, Tedeschi S |title=Bartter syndrome type 3: an unusual cause of nephrolithiasis |journal=Nephrol. Dial. Transplant. |volume=17 |issue= 3 |pages= 521–3 |year= 2002 |pmid= 11865110 |doi=10.1093/ndt/17.3.521 |display-authors=etal}}
*{{cite journal  | author=Zelikovic I, Szargel R, Hawash A, ''et al.'' |title=A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. |journal=Kidney Int. |volume=63 |issue= 1 |pages= 24-32 |year= 2004 |pmid= 12472765 |doi= 10.1046/j.1523-1755.2003.00730.x }}
*{{cite journal  | vauthors=Zelikovic I, Szargel R, Hawash A |title=A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes |journal=Kidney Int. |volume=63 |issue= 1 |pages= 24–32 |year= 2004 |pmid= 12472765 |doi= 10.1046/j.1523-1755.2003.00730.x |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Maehara H, Okamura HO, Kobayashi K, ''et al.'' |title=Expression of CLC-KB gene promoter in the mouse cochlea. |journal=Neuroreport |volume=14 |issue= 12 |pages= 1571-3 |year= 2003 |pmid= 14502078 |doi= 10.1097/01.wnr.0000087905.78892.55 }}
*{{cite journal  | vauthors=Maehara H, Okamura HO, Kobayashi K |title=Expression of CLC-KB gene promoter in the mouse cochlea |journal=NeuroReport |volume=14 |issue= 12 |pages= 1571–3 |year= 2003 |pmid= 14502078 |doi= 10.1097/01.wnr.0000087905.78892.55 |display-authors=etal}}
*{{cite journal  | author=Jeck N, Waldegger P, Doroszewicz J, ''et al.'' |title=A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity. |journal=Kidney Int. |volume=65 |issue= 1 |pages= 190-7 |year= 2004 |pmid= 14675050 |doi= 10.1111/j.1523-1755.2004.00363.x }}
*{{cite journal  | vauthors=Jeck N, Waldegger P, Doroszewicz J |title=A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity |journal=Kidney Int. |volume=65 |issue= 1 |pages= 190–7 |year= 2004 |pmid= 14675050 |doi= 10.1111/j.1523-1755.2004.00363.x |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Schlingmann KP, Konrad M, Jeck N, ''et al.'' |title=Salt wasting and deafness resulting from mutations in two chloride channels. |journal=N. Engl. J. Med. |volume=350 |issue= 13 |pages= 1314-9 |year= 2004 |pmid= 15044642 |doi= 10.1056/NEJMoa032843 }}
*{{cite journal  | vauthors=Schlingmann KP, Konrad M, Jeck N |title=Salt wasting and deafness resulting from mutations in two chloride channels |journal=N. Engl. J. Med. |volume=350 |issue= 13 |pages= 1314–9 |year= 2004 |pmid= 15044642 |doi= 10.1056/NEJMoa032843 |display-authors=etal}}
*{{cite journal  | author=Jeck N, Waldegger S, Lampert A, ''et al.'' |title=Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension. |journal=Hypertension |volume=43 |issue= 6 |pages= 1175-81 |year= 2004 |pmid= 15148291 |doi= 10.1161/01.HYP.0000129824.12959.f0 }}
*{{cite journal  | vauthors=Jeck N, Waldegger S, Lampert A |title=Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension |journal=Hypertension |volume=43 |issue= 6 |pages= 1175–81 |year= 2004 |pmid= 15148291 |doi= 10.1161/01.HYP.0000129824.12959.f0 |display-authors=etal}}
*{{cite journal  | author=Fukuyama S, Hiramatsu M, Akagi M, ''et al.'' |title=Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria. |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 11 |pages= 5847-50 |year= 2004 |pmid= 15531551 |doi= 10.1210/jc.2004-0775 }}
*{{cite journal  | vauthors=Fukuyama S, Hiramatsu M, Akagi M |title=Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 11 |pages= 5847–50 |year= 2004 |pmid= 15531551 |doi= 10.1210/jc.2004-0775 |display-authors=etal}}
*{{cite journal  | author=Speirs HJ, Wang WY, Benjafield AV, Morris BJ |title=No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36. |journal=J. Hypertens. |volume=23 |issue= 8 |pages= 1491-6 |year= 2005 |pmid= 16003175 |doi= }}
*{{cite journal  | vauthors=Speirs HJ, Wang WY, Benjafield AV, Morris BJ |title=No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36 |journal=J. Hypertens. |volume=23 |issue= 8 |pages= 1491–6 |year= 2005 |pmid= 16003175 |doi=10.1097/01.hjh.0000174300.73992.cc  }}
*{{cite journal  | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
*{{cite journal  | vauthors=Kimura K, Wakamatsu A, Suzuki Y |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 |display-authors=etal}}
*{{cite journal  | author=Gorgojo JJ, Donnay S, Jeck N, Konrad M |title=A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age. |journal=Horm. Res. |volume=65 |issue= 2 |pages= 62-8 |year= 2006 |pmid= 16391491 |doi= 10.1159/000090601 }}
*{{cite journal  | vauthors=Gorgojo JJ, Donnay S, Jeck N, Konrad M |title=A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age |journal=Horm. Res. |volume=65 |issue= 2 |pages= 62–8 |year= 2006 |pmid= 16391491 |doi= 10.1159/000090601 }}
*{{cite journal  | author=Scholl U, Hebeisen S, Janssen AG, ''et al.'' |title=Barttin modulates trafficking and function of ClC-K channels. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 30 |pages= 11411-6 |year= 2006 |pmid= 16849430 |doi= 10.1073/pnas.0601631103 }}
*{{cite journal  | vauthors=Scholl U, Hebeisen S, Janssen AG |title=Barttin modulates trafficking and function of ClC-K channels |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 30 |pages= 11411–6 |year= 2006 |pmid= 16849430 |doi= 10.1073/pnas.0601631103 | pmc=1544099 |display-authors=etal}}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* {{MeshName|CLCNKB+protein,+human}}
* {{UCSC gene info|CLCNKB}}
 
{{NLM content}}
{{Ion channels|g4}}
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Revision as of 09:45, 30 August 2017

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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
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View/Edit Human

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.[1]

See also

References

  1. ↑ 1.0 1.1 "Entrez Gene: CLCNKB chloride channel Kb".
  2. ↑ 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.
  3. ↑ Jentsch TJ, Günther W (February 1997). "Chloride channels: an emerging molecular picture". BioEssays. 19 (2): 117–26. doi:10.1002/bies.950190206. PMID 9046241.
  4. ↑ 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.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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