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Transforming growth factor beta receptor 2 is a transmembrane serine/threonine kinase that forms a heterodimeric complex with transforming growth factor beta receptor type 1 to mediate signal transduction from extracellular transforming growth factor beta ligands (TGFB1/2/3) into the cell. Upon ligand binding, it phosphorylates and activates downstream effectors such as SMAD proteins to regulate transcription of genes involved in cell proliferation, differentiation, apoptosis, wound healing, immune response modulation, and extracellular matrix production. It acts as a tumor suppressor gene; loss-of-function or frameshift mutations are associated with several inherited syndromes affecting connective tissues and increased cancer risk due to impaired control over cellular proliferation. Frameshift mutant neoantigens derived from this gene can be recognized by the immune system and are being explored for personalized cancer immunotherapies.
Drugs targeting this molecule may act as inhibitors or agonists of the serine/threonine kinase activity or modulate downstream SMAD signaling pathways.
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