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Description for Protein SLC12A3

solute carrier family 12 (sodium/chloride transporters), member 3
4 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Sodium chloride cotransporter, thiazide sensitive; NCCT; Thiazide sensitive Na,Cl cotransporter; TSC
    Approved Symbol:
    SLC12A3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; 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):

  • Bendroflumethiazide(db);
  • Benzthiazide(db);
  • Chlorothiazide(db);
  • Diazoxide(db);
  • Hydrochlorothiazide(db);
  • Metolazone(db);
  • Polythiazide(db);
  • Quinethazone(db)


    Associated Genetic Diseases:

  • Gitelman syndrome(Pd)
  • Predicted Transmembrane Domains:
    02984_3(11)
    02984_2(11)
    02984_1(11)
    Additional Identifiers:

    HPRD: 02984 Entrez Gene ID: 6559 OMIM ID: 600968 Swissprot Accession: P55017