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Description for Protein CLCN5

chloride channel 5
4 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 7)
Summary:
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 disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • CBS: Domain in cystathionine beta-synthase and other proteins.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05014
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    XRN; CLC5; XLRH; CLCK2; DENTS; NPHL2; hCIC-K2; Chloride channel protein 5; Chloride channel, voltage gated, K2
    Approved Symbol:
    CLCN5
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Dent disease 1(Pd);
  • Hypophosphatemic rickets, X-linked recessive(Pd);
  • Nephrolithiasis, X-linked recessive(Pd);
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 9
  • Isoform 2 : 9
    02053_1(10)
    • Additional Identifiers:

    HPRD: 02053 Entrez Gene ID: 1184 OMIM ID: 300008 Swissprot Accession: B3KPN6; P51795; B3KRR2;