The BMPR2 gene (BMPR2 is the acronym for: Bone Morphogenetic Protein Receptor Type 2) is a protein-coding gene located on chromosome 2q33.1-q33.2. The BMPR2 gene encodes a member of the transmembrane serine/threonine kinase family of bone morphogenetic protein (BMP) receptors.
The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transmit their signals by forming heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene are associated with primary pulmonary hypertension (both familial and fenfluramine-associated), and with autosomal dominant pulmonary veno-occlusive disease.