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Description for Protein NR3C2

nuclear receptor subfamily 3, group C, member 2
12 total interacting proteins; 8 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • ZnF_C4: c4 zinc finger in nuclear hormone receptors
  • HOLI: Ligand binding domain of hormone receptors
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08555
    KEGG - Pathway(s):
    hsa04960
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    MR; Aldosterone receptor; MLR; MCR; Nuclear receptor subfamily 3, group C, member 2
    Approved Symbol:
    NR3C2
    (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):

  • (11-BETA)-11,21-DIHYDROXY-PREGN-4-ENE-3,20-DIONE(db);
  • Aldosterone(db);
  • B-Octylglucoside(db);
  • Desoxycorticosterone Pivalate(db);
  • Drospirenone(db);
  • Eplerenone(db);
  • Felodipine(db);
  • Fludrocortisone(db);
  • Fluticasone Propionate(db);
  • Nimodipine(db);
  • Progesterone(db);
  • Spironolactone(db)

    Associated Genetic Diseases:

  • Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy(Pd);
  • Pseudohypoaldosteronism, type I, autosomal dominant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02991 Entrez Gene ID: 4306 OMIM ID: 600983 Swissprot Accession: Q2NKL1; P08235; B0ZBF6;