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Description for Protein EDNRB

endothelin receptor type B
8 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Three transcript variants encoding two different isoforms have been found for this gene. While both isoforms bind ET1, they exhibit different responses upon binding, suggesting that they may be functionally distinct. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04198
    KEGG - Pathway(s):
    hsa04020; hsa04080; hsa04916
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Endothelin receptor type B isoform 1; Endothelin receptor type B isoform 2; ETB; ETRB; Endothelin receptor nonselective type; HSCR; ABCDS; HSCR2
    Approved Symbol:
    EDNRB
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 13
    Human (de-) phosphorylation sites: 13; 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):

  • Bosentan(db);
  • Sitaxentan(db)

    Associated Genetic Diseases:

  • ABCD syndrome(Pd);
  • Hirschsprung disease 2(Pd);
  • Waardenburg-Shah syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 7
  • Isoform 2 : 7
  • Isoform 1 : 7
    • Additional Identifiers:

    HPRD: 08834 Entrez Gene ID: 1910 OMIM ID: 131244 Swissprot Accession: P24530;