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 ?
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
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.
014 beta receptor III (betaglycan, 300kDa) transforming growth factor, TGFBR2 0.
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.