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Gene : CLCN5 Homo sapiens

Name  ? chloride voltage-gated channel 5 Cytological Location  Xp11.23
Brief Description  chloride voltage-gated channel 5
Description  This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
  • synonyms:
  • NPHL1,
  • chloride channel 5,
  • Dent disease,
  • hClC-K2,
  • CLCK2,
  • CLCN5,
  • hCIC-K2,
  • XRN,
  • CLC5,
  • ClC-5,
  • OTTHUMG00000021514,
  • NPHL1,
  • ClC-5,
  • nephrolithiasis 2, X-linked,
  • XLRH,
  • XRN,
  • X91906,
  • DENTS,
  • HGNC:2023,
  • uc004dos.2,
  • NM_000084,
  • nephrolithiasis 1 (X-linked),
  • chloride channel, voltage-sensitive 5,
  • NPHL2,
  • NPHL2,
  • XLRH,
  • DENTS,
  • hCIC-K2,
  • CLC5
  • identifiers:
  • 1184,
  • ENSG00000171365,
  • CLCN5

Genome feature

Region: gene ? Length: 176640  
Location: X:49922596-50099235 Cyto location: Xp11.23


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Proteins

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SNPs

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Disease

4 Diseases

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Expression

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Other

677 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results