TGFBR2

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Overview[edit | edit source]

TGFBR2 (Transforming Growth Factor Beta Receptor II) is a serine/threonine protein kinase that plays a critical role in the TGF-beta signaling pathway. This receptor is part of the transforming growth factor beta receptor complex, which is involved in a wide range of cellular processes, including cell growth, differentiation, apoptosis, and homeostasis.

Structure[edit | edit source]

TGFBR2 is a transmembrane protein that consists of an extracellular ligand-binding domain, a transmembrane domain, and an intracellular serine/threonine kinase domain. The receptor is encoded by the TGFBR2 gene located on chromosome 3p22. The extracellular domain is responsible for binding TGF-beta ligands, while the intracellular domain transduces the signal through phosphorylation of downstream signaling molecules.

Function[edit | edit source]

TGFBR2 functions as a receptor for the transforming growth factor beta (TGF-beta) cytokines. Upon ligand binding, TGFBR2 forms a heteromeric complex with TGFBR1 (Transforming Growth Factor Beta Receptor I). This complex phosphorylates and activates SMAD proteins, which then translocate to the nucleus to regulate the expression of target genes. This signaling pathway is crucial for maintaining cellular homeostasis and regulating immune responses.

Clinical Significance[edit | edit source]

Mutations in the TGFBR2 gene have been associated with several diseases, including Marfan syndrome, Loeys-Dietz syndrome, and various forms of cancer. In particular, TGFBR2 mutations can lead to dysregulation of the TGF-beta signaling pathway, contributing to tumorigenesis and cancer progression. Loss of TGFBR2 function is often observed in colorectal cancer and gastric cancer.

Research and Therapeutic Implications[edit | edit source]

Research into TGFBR2 has significant implications for understanding cancer biology and developing targeted therapies. Inhibitors of TGFBR2 are being investigated as potential treatments for cancers with aberrant TGF-beta signaling. Additionally, understanding the role of TGFBR2 in fibrosis and cardiovascular diseases could lead to novel therapeutic strategies.

Also see[edit | edit source]

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Contributors: Prab R. Tumpati, MD