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BMPR2A gene on chromosome 2q33-q34 that encodes a member of the bone morphogenetic protein (BMP)-receptor family of transmembrane serine/threonine kinases, which binds BMPs and plays a central role in endochondral bone formation and embryogenesis. Type-II receptors bind ligands in the absence of type-I receptors, but require their respective type-I receptors for signalling. Type-II receptors phosphorylate and activate type-I receptors, which autophosphorylate then bind and activate SMAD transcriptional regulators.
BMPR2 mutations are associated with familial and fenfluramine-associated primary pulmonary hypertension and with pulmonary venoocclusive disease.