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Gene : CLCNKB Homo sapiens

Name  ? chloride voltage-gated channel Kb Cytological Location  1p36.13
Brief Description  chloride voltage-gated channel Kb
Description  The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
  • synonyms:
  • ClC-K2,
  • OTTHUMG00000009530,
  • hClC-Kb,
  • ClC-Kb,
  • HGNC:2027,
  • chloride channel, voltage-sensitive Kb,
  • AK098217,
  • chloride channel Kb,
  • uc001axx.6,
  • CLCKB,
  • NM_000085,
  • CLCNKB
  • identifiers:
  • 1188,
  • ENSG00000184908,
  • CLCNKB

Genome feature

Region: gene ? Length: 13545  
Location: 1:16043782-16057326 Cyto location: 1p36.13


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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Expression

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Other

3740 SN Ps

4 Cross References

17 Data Sets

10 Homologues

0 Located Features

97 Rna Seq Results