The BMPR2 gene on chromosome 2 encodes the bone morphogenetic protein receptor type 2.
Mutations in the BMPR2 gene, generally inherited in a dominant manner, have been reported to cause several disorders including:
- Pulmonary hypertension, familial primary, 1, with or without hereditary hemorrhagic telangiectasia
- Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated
- Pulmonary venoocclusive disease 1
- Pulmonary arterial hypertension