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FLASH GENE
Symbol TGFBR2 contributors: mct/npt - updated : 28-02-2016
HGNC name transforming growth factor, beta receptor II (70/80kDa)
HGNC id 11773
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • cysteine-rich N terminal extracellular domain involved in ligand binding, and mediating receptor partitioning into membrane rafts and efficient entrance into caveolin-positive endosomes (Luga 2009)
  • a single transmembrane domain (1TM)
  • a regulatory segment called the GS region
  • a C terminal cytoplasmic kinase domain
  • a polyadenine tract mutated in colorectal cancers
    • HOMOLOGY
    Homologene
    FAMILY
  • protein kinase superfamily
  • TKL Ser/Thr protein kinase family
  • TGFB receptor subfamily
    • CATEGORY signaling cytokine growth factor , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • membrane bound serine/threonine kinase receptor type, activating SMAD2 and SMAD3 (see TSG3B)
  • required for normal development of the skeleton and that can act to limit chondrogenesis in mesenchymal cells like the interzone (Seo 2007)
    • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    text mediating TGFB in regulating cell proliferation and differentiation and extracellular matrix production
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • ATP
  • magnesium or manganese
    • protein
  • interacting with TGFBRAP1
  • binds to DAXX
  • receptor for TGF-beta
  • PPP2R2B protein interacts with the ACVRL1/TGFBR2/ENG complex and recruits PP2A to nitric oxide synthase 3 (NOS3)
  • AGTR2 regulates TGFBR2 expression and function via the nitric oxide pathway, which may be important in the control of renal tubulointerstitial fibrosis
  • SENP1 promotes sepsis via activating the TGFBR2 signaling
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MFS2 , LDS2B , LDS1B
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       protein chimeric
    major target of the EWSR1/FLI1 chimeric oncoprotein
    tumoral       loss of function
    in renal clear cell carcinomas with poor prognosis (renal clear cell carcinoma with metasatic potential)and inpancreatic, biliary and thyroid carcinoma
    Susceptibility to abdominal aortic aneurysm (Baas 2009)
    Variant & Polymorphism SNP SNP rs1036095 associated to abdominal aortic aneurysm (AAA)(Baas 2010)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS