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FLASH GENE
Symbol TGFBR3 contributors: mct/npt/pgu - updated : 20-02-2013
HGNC name transforming growth factor, beta receptor III
HGNC id 11774
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
in renal cell carcinoma
tumoral     --low  
during the EMT (epithelial to mesenchymal transitions) of pancreatic cancer progression, with a specific role in suppressing EMT-associated increases in motility and invasion
tumoral     --low  
important step in prostate tumorigenesis
tumoral fusion      
of TGFBR3 and MGRA5, with t(1;10)(p22;q24) in myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor
Susceptibility
  • to variation of hip BMD
  • to ovarian failure
  • to Behcet disease
  • Variant & Polymorphism SNP
  • rs17131547 significantly associated to variation of hip BMD
  • polymorphisms increasing the risk of ovarian failure
  • rs1805110 CC genotype in TGFBR3 is probably associated with the protection from Behcet disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of Tgfbr3 in the mouse results in death at E14.5 due to failed coronary vessel development that is characterized by an abnormal epicardium, increased subepicardial space, and poorly developed, dysmorphic vessels