TGFBR2


Also found in: Acronyms.

TGFBR2

A gene on chromosome 3p22 that encodes a transmembrane kinase of the TGFB receptor subfamily of Ser/Thr protein kinases, which forms a heteromer with type-I TGF-beta receptors and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which enter the nucleus and regulate transcription of cell proliferation-related genes.

Molecular pathology
TGFBR2 mutations are associated with Marfan syndrome, Loeys-Deitz aortic aneurysm syndrome and development of various tumours.
References in periodicals archive ?
Mutations in TGFBR1 and TGFBR2 or SMAD3 from DNA of remaining mummies can clarify one of the mysteries of Egyptian history.
R528C in the TGFBR2 gene substantiates interindividual clinical variability.
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
014 beta receptor III (betaglycan, 300kDa) transforming growth factor, TGFBR2 0.
In microsatellite-unstable, UC-associated carcinomas, TGFBR2 has been shown to be mutated, although at much lower rates, than in microsatellite-unstable sporadic carcinomas.
Microsatellite instability tumors show few large-scale genomic alterations and have a distinct gene mutation profile, including mutations in coding microsatellite sequences in TGFBR2 and BAX.
36,37) Other tumor suppressor genes, including TGFBR2, (38) MAP2K4/MKK4, (39,40) FBXW7, (12) and ACVR1B4, are inactivated in a small subset of pancreatic cancers.
43 The tumor suppressor gene TGFBR2 is often found to be mutated in MSI-H CRCs (CRCs with a high degree of MSI) and may be included in an MSI panel.