Encyclopedia
bone morphogenetic protein receptor type 2
- genes
1. Normal Function
The BMPR2 gene provides instructions for making a protein called bone morphogenetic protein receptor type 2. The BMPR2 gene belongs to a family of genes originally identified for its role in regulating the growth and maturation (differentiation) of bone and cartilage. Recently, researchers have found that this gene family plays a broader role in regulating the growth and differentiation of numerous types of cells.
Bone morphogenetic protein receptor type 2 spans the cell membrane, so that one end of the protein is on the outer surface of the cell and the other end remains inside the cell. This positioning allows the protein 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 of cell proliferation and apoptosis regulates the number of cells in tissues.
2. Health Conditions Related to Genetic Changes
2.1. 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 (hypertension) in the blood vessel that carries blood from the heart to the lungs (the pulmonary artery). About half of the mutations involved in this condition disrupt the assembly of bone morphogenetic protein receptor type 2, reducing the amount of this protein in cells. Other mutations prevent bone morphogenetic protein receptor type 2 from reaching the cell surface or alter its structure so it cannot receive or transmit signals.
It remains unclear how BMPR2 gene mutations cause pulmonary arterial hypertension. Researchers suggest that a mutation in this gene promotes cell proliferation or prevents cell death, resulting in an overgrowth of cells in the smallest arteries throughout the lungs. As a result, these arteries narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, blood pressure increases in the pulmonary artery and in the right ventricle of the heart, which is the chamber that pumps blood into the pulmonary artery. Signs and symptoms of pulmonary arterial hypertension occur when increased blood pressure cannot fully overcome the elevated resistance, and blood flow to the body is insufficient.
2.2. Pulmonary veno-occlusive disease
Pulmonary veno-occlusive disease
3. 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
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/bmpr2
References
- Austin ED, Loyd JE, Phillips JA III. Heritable Pulmonary ArterialHypertension. 2002 Jul 18 [updated 2015 Jun 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK1485/
- Austin ED, Loyd JE. The genetics of pulmonary arterial hypertension. Circ Res.2014 Jun 20;115(1):189-202. doi: 10.1161/CIRCRESAHA.115.303404. Review.
- Machado RD, Pauciulo MW, Thomson JR, Lane KB, Morgan NV, Wheeler L, PhillipsJA 3rd, Newman J, Williams D, Galiè N, Manes A, McNeil K, Yacoub M, Mikhail G,Rogers P, Corris P, Humbert M, Donnai D, Martensson G, Tranebjaerg L, Loyd JE,Trembath RC, Nichols WC. BMPR2 haploinsufficiency as the inherited molecularmechanism for primary pulmonary hypertension. Am J Hum Genet. 2001Jan;68(1):92-102.
- Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, ChungWK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, HumbertM, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR,Grünig E. Pulmonary Arterial Hypertension: A Current Perspective on Establishedand Emerging Molecular Genetic Defects. Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904.
- Thomson JR, Machado RD, Pauciulo MW, Morgan NV, Humbert M, Elliott GC, Ward K,Yacoub M, Mikhail G, Rogers P, Newman J, Wheeler L, Higenbottam T, Gibbs JS, EganJ, Crozier A, Peacock A, Allcock R, Corris P, Loyd JE, Trembath RC, Nichols WC.Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. J Med Genet.2000 Oct;37(10):741-5.
- Zhang S, Fantozzi I, Tigno DD, Yi ES, Platoshyn O, Thistlethwaite PA, KriettJM, Yung G, Rubin LJ, Yuan JX. Bone morphogenetic proteins induce apoptosis inhuman pulmonary vascular smooth muscle cells. Am J Physiol Lung Cell Mol Physiol.2003 Sep;285(3):L740-54.
