CLCN5

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Chloride channel, voltage-sensitive 5
Protein CLCN5 PDB 2j9l.png
PDB rendering based on 2j9l.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CLCN5 ; CLC5; CLCK2; ClC-5; DENTS; NPHL1; NPHL2; XLRH; XRN; hCIC-K2
External IDs OMIM300008 MGI99486 HomoloGene73872 IUPHAR: ClC-5 GeneCards: CLCN5 Gene
RNA expression pattern
PBB GE CLCN5 206704 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1184 12728
Ensembl ENSG00000171365 ENSMUSG00000004317
UniProt P51795 Q9WVD4
RefSeq (mRNA) NM_000084 NM_001243762
RefSeq (protein) NP_000075 NP_001230691
Location (UCSC) Chr HG1436_HG1432_PATCH:
49.73 – 49.91 Mb
Chr X:
7.15 – 7.32 Mb
PubMed search [1] [2]

H(+)/Cl(-) exchange transporter 5 is a protein that in humans is encoded by the CLCN5 gene.[1][2]

This gene encodes a member of the ClC family of chloride ion channels and ion transporters. Mutations in this gene have been found in Dent's Disease and renal tubular disorders complicated by nephrolithiasis.[3] Although a member of a family of chloride channels, the CLCN5 protein allows movement of protons in the opposite direction of Cl(-), thus functioning as an antiporter. [4]

See also[edit]

References[edit]

  1. ^ Fisher SE, Black GC, Lloyd SE, Hatchwell E, Wrong O, Thakker RV, Craig IW (Apr 1995). "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 (11): 2053–9. PMID 7874126. 
  2. ^ Pook MA, Wrong O, Wooding C, Norden AG, Feest TG, Thakker RV (Mar 1994). "Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22". Hum Mol Genet 2 (12): 2129–34. doi:10.1093/hmg/2.12.2129. PMID 8111383. 
  3. ^ "Entrez Gene: CLCN5 chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)". 
  4. ^ Picollo A, Pusch M (2005). "Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.". Nature 436 (7049): 420–3. doi:10.1038/nature03720. PMID 16034421. 

Further reading[edit]

External links[edit]

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