Chloride Channel Protein 5 (CLCN5)

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CLC5; CLCK2; DENTS; NPHL2; XLRH; XRN; hCIC-K2; hClC-K2; Nephrolithiasis 2,X-linked; Dent Disease; H(+)/Cl(-) exchange transporter 5

Chloride Channel Protein 5 (CLCN5)
CLCN5 encodes a member of the ClC family of chloride ion channels and ion transporters. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis.Sequence analysis suggested that the gene, termed CLCK2, encoded a new member of the CLC family of voltage-gated chloride channels. A 9.5-kb mRNA transcript was expressed predominantly in the kidney.
Fisher et al. (1995) described the isolation and characterization of the complete open reading frame of CLCN5, which encodes a deduced 746-amino acid protein with significant homology to all known members of the family of voltage-gated chloride channels. CLCN5 belongs to a distinct branch of this family, which also includes CLCN3 and CLCN4.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Chloride Channel Protein 5 (CLCN5)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Chloride Channel Protein 5 (CLCN5)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Chloride Channel Protein 5 (CLCN5)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Chloride Channel Protein 5 (CLCN5)CLIA Kit Customized Service Offer
n/aELISA Kit for Chloride Channel Protein 5 (CLCN5)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Chloride Channel Protein 5 (CLCN5)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Chloride Channel Protein 5 (CLCN5)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Chloride Channel Protein 5 (CLCN5)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Chloride Channel Protein 5 (CLCN5)CLIA Kit Customized Service Offer
n/aELISA Kit for Chloride Channel Protein 5 (CLCN5)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Chloride Channel Protein 5 (CLCN5)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Chloride Channel Protein 5 (CLCN5)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Chloride Channel Protein 5 (CLCN5)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Chloride Channel Protein 5 (CLCN5)CLIA Kit Customized Service Offer
n/aELISA Kit for Chloride Channel Protein 5 (CLCN5)ELISA Kit Customized Service Offer
  1. "Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)."Genomics 29:598-606(1995) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis)."Hum. Mol. Genet. 3:2053-2059(1994) [PubMed] [Europe PMC] [Abstract]
  6. "Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant."Kidney Blood Press. Res. 26:176-184(2003) [PubMed] [Europe PMC] [Abstract]
  7. "Expression of CLCN voltage-gated chloride channel genes in human blood vessels."J. Mol. Cell. Cardiol. 31:657-666(1999) [PubMed] [Europe PMC] [Abstract]
  8. "Nedd4-2 functionally interacts with ClC-5: involvement in constitutive albumin endocytosis in proximal tubule cells."J. Biol. Chem. 279:54996-55007(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Nucleotide recognition by the cytoplasmic domain of the human chloride transporter ClC-5."Nat. Struct. Mol. Biol. 14:60-67(2007) [PubMed] [Europe PMC] [Abstract]
  10. "A common molecular basis for three inherited kidney stone diseases."Nature 379:445-449(1996) [PubMed] [Europe PMC] [Abstract]
  11. "A second family with XLRH displays the mutation S244L in the CLCN5 gene."Hum. Genet. 99:781-784(1997) [PubMed] [Europe PMC] [Abstract]
  12. "Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders."Hum. Mol. Genet. 6:1233-1239(1997) [PubMed] [Europe PMC] [Abstract]
  13. "Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)."J. Clin. Invest. 99:967-974(1997) [PubMed] [Europe PMC] [Abstract]
  14. "X-linked recessive nephrolithiasis: presentation and diagnosis in children."J. Pediatr. 132:859-862(1998) [PubMed] [Europe PMC] [Abstract]
  15. "Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease."Kidney Int. 54:1850-1856(1998) [PubMed] [Europe PMC] [Abstract]
  16. "Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease)."Am. J. Kidney Dis. 37:138-143(2001) [PubMed] [Europe PMC] [Abstract]
  17. "Evidence for genetic heterogeneity in Dent's disease."Kidney Int. 65:1615-1620(2004) [PubMed] [Europe PMC] [Abstract]
  18. "Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy."J. Hum. Genet. 51:25-30(2006) [PubMed] [Europe PMC] [Abstract]
  19. "Phenotypic and genetic heterogeneity in Dent's disease -- the results of an Italian collaborative study."Nephrol. Dial. Transplant. 21:2452-2463(2006) [PubMed] [Europe PMC] [Abstract]
  20. "Family history may be misleading in the diagnosis of Dent's disease."Urol. Res. 34:61-63(2006) [PubMed] [Europe PMC] [Abstract]
  21. "A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease."J. Hum. Genet. 52:255-261(2007) [PubMed] [Europe PMC] [Abstract]
  22. "Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure."Am. J. Physiol. 296:F390-F397(2009) [PubMed] [Europe PMC] [Abstract]
  23. "Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing."Kidney Int. 76:999-1005(2009) [PubMed] [Europe PMC] [Abstract]
  24. "Heterogeneity in the processing of CLCN5 mutants related to Dent disease."Hum. Mutat. 32:476-483(2011) [PubMed] [Europe PMC] [Abstract]