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BMPR2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

BMPR2 gene

The BMPR2 gene provides instructions for making a protein that regulates cell growth and division, and mutations in this gene are primarily associated with pulmonary arterial hypertension.

Normal Function

The BMPR2 gene provides instructions for making a protein called bone morphogenetic protein receptor type 2. This gene belongs to a family of genes originally identified for its role in regulating the growth and maturation (differentiation) of bone and cartilage. Researchers have since found that this gene family plays a broader role in regulating the growth and differentiation of numerous types of cells.

The protein spans the cell membrane, allowing it to receive and transmit signals that help the cell respond to its environment by growing and dividing (cell proliferation) or by undergoing controlled cell death (apoptosis). This balance regulates the number of cells in tissues.

Health Conditions Related to Genetic Changes

Pulmonary arterial hypertension

Researchers have identified more than 350 BMPR2 gene mutations that can cause pulmonary arterial hypertension, a condition characterized by abnormally high blood pressure in the pulmonary artery. Mechanisms include:

  • Disruption of the assembly of the protein, reducing its amount in cells.
  • Prevention of the protein from reaching the cell surface.
  • Alteration of the protein structure, preventing it from receiving or transmitting signals.

While the exact process remains under study, researchers suggest that mutations promote cell proliferation or prevent cell death, leading to an overgrowth of cells in the smallest arteries of the lungs. This narrows the arteries, increases resistance to blood flow, and raises blood pressure in the pulmonary artery and the right ventricle of the heart.

Pulmonary veno-occlusive disease

The BMPR2 gene is also associated with pulmonary veno-occlusive disease.

Other Names for This Gene

  • BMPR-II
  • BMPR2_HUMAN
  • BMPR3
  • BMR2
  • bone morphogenetic protein receptor type II
  • bone morphogenetic protein receptor, type II (serine/threonine kinase)
  • BRK-3
  • PPH1
  • Receptor, Type II BMP
  • serine/threonine kinase
  • T-ALK
  • type II activin receptor-like kinase

Frequently Asked Questions

PAH associated with BMPR2 mutations tends to be more severe and progress faster than other forms of PAH. While there's no cure, specific medications can help manage symptoms and slow disease progression. These include vasodilators to relax blood vessels, endothelin receptor antagonists, phosphodiesterase-5 inhibitors, and prostacyclin pathway agents. Regular monitoring, adherence to treatment, and potentially lung transplantation in advanced cases are key. Genetic counseling is also important for family members.
Genetic testing for BMPR2 mutations is available and often recommended for individuals with a family history of PAH or those diagnosed with idiopathic PAH (PAH without a known cause). A genetic counselor can help assess your risk, explain the testing process, and interpret the results. Identifying a BMPR2 mutation can inform family screening and potentially guide treatment decisions.
Early symptoms of PAH can be subtle and worsen over time. They often include shortness of breath, especially during exercise, fatigue, dizziness, chest pain or pressure, and swelling in the ankles, legs, or abdomen. As the condition progresses, fainting spells and a bluish tint to the lips or skin may occur. It's crucial for individuals with a known BMPR2 mutation to report any of these symptoms to their doctor promptly for evaluation.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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