CLCNKB

Chloride channel Kb

Identifiers

CLCNKB; CLCKB; ClC-K2; ClC-Kb; MGC24087; hClC-Kb

External IDs

OMIM: 602023 MGI: 1930643 HomoloGene: 65 GeneCards: CLCNKB Gene

Gene Ontology
Molecular function	• voltage-gated ion channel activity • voltage-gated chloride channel activity
Cellular component	• plasma membrane • integral to plasma membrane • chloride channel complex
Biological process	• transport • ion transport • excretion • transmembrane transport
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 1:
16.37 – 16.38 Mb

Chr 4:
140.94 – 140.95 Mb

PubMed search

[1]

[2]

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]

1 See also
2 References
3 Further reading
4 External links

References

^ ^a ^b "Entrez Gene: CLCNKB chloride channel Kb". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1188.
^ 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.
^ 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.

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. doi:10.1073/pnas.91.15.6943. PMC 44314. PMID 8041726. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=44314.
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.
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. 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. 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. 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
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. doi:10.1097/01.hjh.0000174300.73992.cc. 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. PMC 1356129. PMID 16344560. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1356129.
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. PMC 1544099. PMID 16849430. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1544099.

External links

MeSH CLCNKB+protein,+human

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

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Voltage-gated	L-type/Ca_vα (1.1, 1.2, 1.3, 1.4) · N-type/Ca_vα2.2 · P-type/Ca_vα(2.1) · Q-type/Ca_vα2.1 · R-type/Ca_vα2.3 · T-type/Ca_vα(3.1, 3.2, 3.3) α₂δ-subunits (1, 2) · β-subunits (β1, β2, β3, β4) · γ-subunits (γ1, γ2, γ3, γ4) Cation channels of sperm (1, 2, 3, 4) · Two-pore channel (1, 2)

Ligand-gated	Inositol trisphosphate receptor (1, 2, 3) · Ryanodine receptor (1, 2, 3)

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel (α, β, γ, δ)

Proton gated	Amiloride-sensitive cation channel (1, 2, 3, 4)

Voltage-gated	Na_vα (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8, 1.9, 7A) · Na_vβ (1, 2, 3, 4)

K⁺: Potassium channel

Voltage-gated	K_vα1-6 (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8) · (2.1, 2.2) · (3.1, 3.2, 3.3, 3.4) · (4.1, 4.2, 4.3) · (5.1) · (6.1, 6.2, 6.3, 6.4) K_vα7-12 (7.1, 7.2, 7.3, 7.4, 7.5) · (8.1, 8.2) · (9.1, 9.2, 9.3) · (10.1, 10.2) · (11.1/hERG, 11.2, 11.3) · (12.1, 12.2, 12.3) K_vβ (1, 2, 3) · KCNIP (1, 2, 3, 4) · minK/ISK · minK/ISK-like · MiRP (1, 2, 3) · Shaker gene

Calcium-activated	BK channel (α1, β1, β2, β3, β4) · SK channel (SK1, SK2, SK3, SK4) · K_Ca (1.1, 2.1, 2.2, 2.3, 3.1, 4.1, 4.2, 5.1)

Inward-rectifier	K_ATP · K_ir (1.1, 2.1, 2.2, 2.3, 2.4, 2.6) · GIRK/K_ir (3.1, 3.2, 3.3, 3.4) · K_ir (4.1, 4.2, 5.1, 6.1, 6.2, 7.1)

Tandem pore domain	K2P (1, 2, 3, 4, 5, 6, 7, 9, 10, 12, 13, 15, 16, 17, 18)

Other

Cl^-: Chloride channel	ANO1 · Bestrophin (1, 2) · CFTR · CLCA (1, 2, 3, 4) · CLCN (1, 2, 3, 4, 5, 6, 7, KA, KB) · CLIC (1, 2, 3, 4, 5, 6, L1) · CLNS (1A, 1B)

H⁺: Voltage-gated	HVCN1

M⁺: TRP cation channel	TRPA (1) · TRPC (1, 2, 3, 4, 4AP, 5, 6, 7) · TRPM (1, 2, 3, 4, 5, 6, 7, 8) · TRPML (1, 2, 3) · TRPN · TRPP (1, 2) · TRPV (1, 2, 3, 4, 5, 6)

Cyclic nucleotide-gated (FC)	α (1, 2, 3, 4) · β (1, 2, 3) · HCN (1, 2, 3, 4)

Porin	Aquaporin (1, 2, 3, 4, 5, 7, 8, 9) · Voltage-dependent anion channel (1, 2, 3) · General bacterial porin family

Gap junction	Connexin: A (GJA1, GJA3, GJA4, GJA5, GJA8, GJA9, GJA10) · B (GJB1, GJB2, GJB3, GJB4, GJB5, GJB6, GJB7) · C (GJC1, GJC2, GJC3) · D (GJD2, GJD3, GJD4)) Innexin

General	Ligand-gated ion channel · Voltage-gated ion channel · Stretch-activated ion channel

see also disorders
B memb: cead, trns (1A, 1C, 1F, 2A, 3A1, 3A2-3, 3D), othr

CLCNKB

Contents

See also

References

Further reading

External links