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Description for Protein RET

ret proto-oncogene
36 total interacting proteins; 21 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • Cadherin: Cadherin repeats
  • TM: Transmembrane domain
  • Tyr_Kinase: tyrosine kinase domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.10.1
    KEGG - Orthology:
    K05126
    KEGG - Pathway(s):
    hsa04144; hsa05200; hsa05216
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    RET transforming sequence; Hydroxyaryl protein kinase; c-Ret; Ret proto-oncogene isoform c; Ret proto-oncogene isoform a
    Approved Symbol:
    RET
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 22
    Human (de-) phosphorylation sites: 22; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 11
    Human phosphorylation targets: 11; Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • 1-Ter-Butyl-3-P-Tolyl-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine(db);
  • 4-BROMO-2-FLUORO-N-[(4E)-6-METHOXY-7-[(1-METHYLPIPERIDIN-4-YL)METHOXY]QUINAZOLIN-4(1H)-YLIDENE]ANILINE(db);
  • Imatinib(db)

    Associated Genetic Diseases:

  • Central hypoventilation syndrome, congenital(Pd);
  • Central hypoventilation syndrome, congenital, with hirschsprung disease(Pd);
  • Hirschsprung disease(Pd);
  • Hirschsprung disease, severe(Pd);
  • Hirschsprung disease, susceptibility to(Pd);
  • Multiple endocrine neoplasia, type IIA(Pd);
  • Multiple endocrine neoplasia, type IIA, with cutaneous lichen amyloidosis(Pd);
  • Multiple endocrine neoplasia, type IIA, with hirschsprung disease(Pd);
  • Multiple endocrine neoplasia, type IIA, without pheochromocytoma(Pd);
  • Multiple endocrine neoplasia, type IIB(Pd);
  • Thyroid carcinoma, familial medullary(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 01266 Entrez Gene ID: 5979 OMIM ID: 164761 Swissprot Accession: Q9BTB0; P07949; Q9BTX6;