TGFβR2

TGFβR2 or Transforming Growth Factor Beta Receptor II is a protein that in humans is encoded by the TGFβR2 gene. It is a member of the Serine/Threonine protein kinase family and the TGFB receptor subfamily.

Function

TGFβR2 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

The TGFβR2 protein is composed of a large extracellular domain, a single transmembrane domain, and a cytoplasmic domain. The extracellular domain is responsible for ligand binding, while the cytoplasmic domain has kinase activity and is involved in signal transduction.

Clinical Significance

Mutations in the TGFβR2 gene are associated with aortic aneurysm syndrome, also known as Marfan syndrome and Loeys-Dietz syndrome. These are genetic disorders that affect the body's connective tissue. Connective tissue provides strength and flexibility to structures such as the skin, ligaments, and blood vessels.

Role in Cancer

TGFβR2 has been implicated in a variety of cancers. Loss of function mutations in the TGFβR2 gene are frequently found in microsatellite instability (MSI) positive colorectal cancers.

See Also

• TGF beta signaling pathway
• TGFβR1
• TGFβR3

References

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