Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
BMPR2

BMPR2

Reviewed January 2007

What is the official name of the BMPR2 gene?

The official name of this gene is “bone morphogenetic protein receptor, type II (serine/threonine kinase).”

BMPR2 is the gene's official symbol. The BMPR2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the BMPR2 gene?

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 arrangement 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 cell death regulates the number of cells in tissues.

How are changes in the BMPR2 gene related to health conditions?

pulmonary arterial hypertension - caused by mutations in the BMPR2 gene

Researchers have identified more than 140 BMPR2 gene mutations that cause pulmonary arterial hypertension. About half of these mutations 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, pressure increases in the pulmonary artery and in the heart chamber that pumps blood into the pulmonary artery (the right ventricle). Signs and symptoms of pulmonary arterial hypertension occur when increased pressure cannot fully overcome the elevated resistance and blood flow to the body is insufficient.

Where is the BMPR2 gene located?

Cytogenetic Location: 2q33-q34

Molecular Location on chromosome 2: base pairs 202,376,326 to 202,567,750

The BMPR2 gene is located on the long (q) arm of chromosome 2 between positions 33 and 34.

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 202,376,326 to base pair 202,567,750 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about BMPR2?

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.

What other names do people use for the BMPR2 gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding BMPR2?

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 ; ventricle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (13 links)

 

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? in the Handbook.

 
Reviewed: January 2007
Published: November 17, 2014