TGF beta receptor 2

TGF beta receptor 2 (Transforming Growth Factor Beta Receptor II) is a protein that in humans is encoded by the TGFBR2 gene. It is a member of the serine/threonine protein kinase family and the TGF-beta receptor subfamily.

Function

The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan syndrome, Loeys-Dietz syndrome, and the development of various types of tumors.

Structure

TGF beta receptor 2 is a single-pass type I membrane protein. It is a 70 kDa transmembrane homodimer with a cytoplasmic serine/threonine-specific protein kinase domain. The extracellular domain is a homodimer with a ligand binding pocket formed by the juxtaposition of the two subunits.

Clinical significance

Mutations in the TGFBR2 gene are associated with aortic aneurysm and dissection, as well as with syndromic forms of thoracic aortic aneurysm. TGFBR2 mutations have also been implicated in non-syndromic peripheral and abdominal aortic aneurysms.

See also

• TGF beta receptors
• TGF beta signaling pathway
• Marfan syndrome
• Loeys-Dietz syndrome

External links

• GeneCards - TGFBR2