TGFBR2, also known as transforming growth factor-beta receptor type 2, is a transmembrane protein that plays a crucial role in cellular signaling. It contains a protein kinase domain and forms a heterodimeric complex with TGF-beta receptor type-1, binding to TGF-beta ligands to initiate signal transduction. This receptor complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes involved in cell proliferation, differentiation, apoptosis, wound healing, and immunosuppression. TGFBR2 is essential for maintaining cellular homeostasis and preventing uncontrolled cell growth, thus acting as a tumor suppressor. Mutations in the TGFBR2 gene are associated with various disorders, including Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and familial thoracic aortic aneurysm and dissection. Additionally, aberrations in TGFBR2 signaling are implicated in the development of multiple types of tumors.
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