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Description for Protein TGFBR2

transforming growth factor, beta receptor II (70/80kDa)
45 total interacting proteins; 26 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(undefined: 1)
Summary:
This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
  • S_T_kinase: Serine/Threonine protein kinases, catalytic domain
  • S_T_Y_Kinase: Protein kinase
  • unclassified specificity
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.11.30
    KEGG - Orthology:
    K04388
    KEGG - Pathway(s):
    hsa04010; hsa04060; hsa04144; hsa04350; hsa04520; hsa05142; hsa05200; hsa05210; hsa05212; hsa05220
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    TGF beta receptor 2; TGFR-2; TbetaR-II; TGF-beta type II receptor; Transforming growth factor beta receptor type IIC; Transforming growth factor, beta receptor II (70-80kD); EC 2.7.1.37; TGF-beta type II receptor isoform B precursor; TGF-beta type II receptor isoform A precursor; TbetaR II; HNPCC6; MFS2; RIIC; TGFbeta-RII; TGF-beta receptor type IIB
    Approved Symbol:
    TGFBR2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 28
    Human (de-) phosphorylation sites: 28; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 28
    Human phosphorylation targets: 3; Predicted platelet targets: 25
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Glycerol(db)

    Associated Genetic Diseases:

  • Aortic aneurysm, familial thoracic 3(Pd);
  • Colon cancer, hereditary nonpolyposis, type 6, somatic(Pd);
  • Colorectal cancer, hereditary nonpolyposis, type 6(Pd);
  • Esophageal cancer(Pd);
  • Loeys-Dietz syndrome(Pd);
  • Loeys-Dietz syndrome, type I(Pd);
  • Loeys-Dietz syndrome, type II(Pd);
  • Marfan syndrome, type II(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 01823 Entrez Gene ID: 7048 OMIM ID: 190182 Swissprot Accession: P37173; D2JYI1; A3QNQ0;