CLCN5

CLCN5
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases CLCN5, CLC5, CLCK2, ClC-5, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2, chloride voltage-gated channel 5
External IDs MGI: 99486 HomoloGene: 73872 GeneCards: CLCN5
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

1184

12728

Ensembl

ENSG00000171365

ENSMUSG00000004317

UniProt

P51795

Q9WVD4

RefSeq (mRNA)

NM_000084
NM_001127898
NM_001127899
NM_001272102
NM_001282163

NM_001243762
NM_016691

RefSeq (protein)

NP_000075.1
NP_001121370.1
NP_001121371.1
NP_001269092.1

NP_057900.3

Location (UCSC) Chr X: 49.92 – 50.1 Mb Chr X: 7.15 – 7.32 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

H(+)/Cl(-) exchange transporter 5 is a protein that in humans is encoded by the CLCN5 gene.[3][4]

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.[5] 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.[6]

See also

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 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.
  5. "Entrez Gene: CLCN5 chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)".
  6. 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

External links

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


This article is issued from Wikipedia - version of the 5/22/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.