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Genetics Home Reference: your guide to understanding genetic conditions
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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.

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? (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
  • 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 ; ventricle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • OMIM: BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II (http://omim.org/entry/600799)
  • Cogan JD, Pauciulo MW, Batchman AP, Prince MA, Robbins IM, Hedges LK, Stanton KC, Wheeler LA, Phillips JA 3rd, Loyd JE, Nichols WC. High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension. Am J Respir Crit Care Med. 2006 Sep 1;174(5):590-8. Epub 2006 May 25. (http://www.ncbi.nlm.nih.gov/pubmed/16728714?dopt=Abstract)
  • Cogan JD, Vnencak-Jones CL, Phillips JA 3rd, Lane KB, Wheeler LA, Robbins IM, Garrison G, Hedges LK, Loyd JE. Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension. Genet Med. 2005 Mar;7(3):169-74. (http://www.ncbi.nlm.nih.gov/pubmed/15775752?dopt=Abstract)
  • Deng Z, Morse JH, Slager SL, Cuervo N, Moore KJ, Venetos G, Kalachikov S, Cayanis E, Fischer SG, Barst RJ, Hodge SE, Knowles JA. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet. 2000 Sep;67(3):737-44. Epub 2000 Jul 20. (http://www.ncbi.nlm.nih.gov/pubmed/10903931?dopt=Abstract)
  • Gene Review: Heritable Pulmonary Arterial Hypertension (http://www.ncbi.nlm.nih.gov/books/NBK1485)
  • Machado RD, Aldred MA, James V, Harrison RE, Patel B, Schwalbe EC, Gruenig E, Janssen B, Koehler R, Seeger W, Eickelberg O, Olschewski H, Elliott CG, Glissmeyer E, Carlquist J, Kim M, Torbicki A, Fijalkowska A, Szewczyk G, Parma J, Abramowicz MJ, Galie N, Morisaki H, Kyotani S, Nakanishi N, Morisaki T, Humbert M, Simonneau G, Sitbon O, Soubrier F, Coulet F, Morrell NW, Trembath RC. Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Hum Mutat. 2006 Feb;27(2):121-32. (http://www.ncbi.nlm.nih.gov/pubmed/16429395?dopt=Abstract)
  • 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)
  • Morrell NW. Pulmonary hypertension due to BMPR2 mutation: a new paradigm for tissue remodeling? Proc Am Thorac Soc. 2006 Nov;3(8):680-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17065373?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/659)
  • Newman JH, Trembath RC, Morse JA, Grunig E, Loyd JE, Adnot S, Coccolo F, Ventura C, Phillips JA 3rd, Knowles JA, Janssen B, Eickelberg O, Eddahibi S, Herve P, Nichols WC, Elliott G. Genetic basis of pulmonary arterial hypertension: current understanding and future directions. J Am Coll Cardiol. 2004 Jun 16;43(12 Suppl S):33S-39S. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15194176?dopt=Abstract)
  • Runo JR, Loyd JE. Primary pulmonary hypertension. Lancet. 2003 May 3;361(9368):1533-44. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12737878?dopt=Abstract)
  • 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 2007
Published: December 22, 2014