Overview:

TGFBR2 is a member of the TGFbeta receptor subfamily and is a ser/thr protein kinase. TGFBR2-induced protein phosphorylation plays a key role in signal transduction that leads to mitogenic responses (1). The TGFBR2 receptor transmits signals from the cell surface to the nucleus and provides instructions for making transforming growth factor (TGF)-beta type II receptor. Mutations in TGFBR2 gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors (2).

Gene Aliases:

1110020H15Rik; AU042018; DNIIR; RIIDN; TbetaR-II; TbetaRII; TBR-II

Genbank Number:

BC052629

References:

1. Cheng, N. et al. Enhanced hepatocyte growth factor signaling by type II transforming growth factor-beta receptor knockout fibroblasts promotes mammary tumorigenesis." Cancer Res. 2007;67(10):4869-77.

2. Sakai, H. et al. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. Am. J. Med. Genet. 2006; 140(16):1719-25.