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Genetics Home Reference: your guide to understanding genetic conditions
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BMPR2

Reviewed January 2016

What is the official name of the BMPR2 gene?

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.

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 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.

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 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.

Where is the BMPR2 gene located?

Cytogenetic Location: 2q33-q34

Molecular Location on chromosome 2: base pairs 202,376,310 to 202,567,751

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/659))

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 202,376,310 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.

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
  • 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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

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 ; veno-occlusive disease ; ventricle

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

References

  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/24951767?dopt=Abstract)
  • OMIM: BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II (http://omim.org/entry/600799)
  • Gene Review: Heritable Pulmonary Arterial Hypertension (http://www.ncbi.nlm.nih.gov/books/NBK1485)
  • Machado RD, Pauciulo MW, Thomson JR, Lane KB, Morgan NV, Wheeler L, Phillips JA 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 molecular mechanism for primary pulmonary hypertension. Am J Hum Genet. 2001 Jan;68(1):92-102. Epub 2000 Dec 12. (http://www.ncbi.nlm.nih.gov/pubmed/11115378?dopt=Abstract)
  • Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, Humbert M, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR, Grünig E. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904. Epub 2015 Oct 12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/26387786?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/659)
  • 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, Egan J, 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. (http://www.ncbi.nlm.nih.gov/pubmed/11015450?dopt=Abstract)
  • Zhang S, Fantozzi I, Tigno DD, Yi ES, Platoshyn O, Thistlethwaite PA, Kriett JM, Yung G, Rubin LJ, Yuan JX. Bone morphogenetic proteins induce apoptosis in human pulmonary vascular smooth muscle cells. Am J Physiol Lung Cell Mol Physiol. 2003 Sep;285(3):L740-54. Epub 2003 May 9. (http://www.ncbi.nlm.nih.gov/pubmed/12740218?dopt=Abstract)

 

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.

 
Reviewed: January 2016
Published: February 1, 2016