Family

Transforming growth factor-beta receptor, type II (IPR017194)

Short name: Transform_growth_fac-b_typ-2

Family relationships

Description

This entry represents the transforming growth factor (TGF)-beta receptor type-2, which has serine/threonion kinase activity (EC:2.7.11.30) and uses magnesium or manganese as a cofactor. These proteins are the receptors for TGF-beta, a large family of growth and differentiation factors that mobilise complex signalling networks to regulate cellular differentiation, proliferation, motility, adhesion, and apoptosis [PMID: 18310276]. On ligand binding, the type-2 TGF-beta receptor forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type-2 receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators.

Defects in TGF-beta receptor type-2 are linked to several diseases, including hereditary non-polyposis colorectal cancer type 6 (HNPCC6) [PMID: 9500552], oesophageal cancer [PMID: 11078757], Loeys-Dietz syndrome types 1B (LDS1B) and 2B (LDS2B) [PMID: 15731757], aortic aneurysm familial thoracic type 3 (AAT3), and Marfan syndrome type 2 (MFS2) [PMID: 16791849].

GO terms

Biological Process

GO:0007179 transforming growth factor beta receptor signaling pathway

Molecular Function

GO:0046872 metal ion binding
GO:0004674 protein serine/threonine kinase activity
GO:0004872 receptor activity

Cellular Component

GO:0016021 integral component of membrane
GO:0043235 receptor complex

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PIRSF