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The official name of this gene is “bone morphogenetic protein receptor type II.”
BMPR2 is the gene's official symbol. The BMPR2 gene is also known by other names, listed below.
The BMPR2 gene provides instructions for making a protein called bone morphogenetic protein receptor type II. 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 II 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.
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 II, reducing the amount of this protein in cells. Other mutations prevent bone morphogenetic protein receptor type II 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.
Cytogenetic Location: 2q33-q34
Molecular Location on chromosome 2: base pairs 202,376,310 to 202,567,751
The BMPR2 gene is located on the long (q) arm of chromosome 2 between positions 33 and 34.
More precisely, the BMPR2 gene is located from base pair 202,376,310 to base pair 202,567,751 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about BMPR2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
apoptosis ; arteries ; artery ; cartilage ; cell ; cell membrane ; cell proliferation ; diameter ; differentiation ; gene ; hypertension ; kinase ; mutation ; proliferation ; protein ; pulmonary ; pulmonary artery ; receptor ; serine ; threonine ; threonine kinase ; veno-occlusive disease ; ventricle
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.