Reviewed May 2009
What is the official name of the BMPR1A gene?
The official name of this gene is “bone morphogenetic protein receptor, type IA.”
BMPR1A is the gene's official symbol. The BMPR1A gene is also known by other names, listed below.
What is the normal function of the BMPR1A gene?
The BMPR1A gene provides instructions for making a protein called bone morphogenetic protein receptor 1A. This receptor protein has a specific site into which certain other proteins, called ligands, fit like keys into locks. Specifically, the BMPR1A protein attaches (binds) to ligands in the transforming growth factor beta (TGF-β) pathway. This signaling pathway allows the environment outside the cell to affect how the cell produces other proteins. The BMPR1A receptor protein and its ligands are involved in transmitting chemical signals from the cell membrane to the nucleus.
When the BMPR1A protein is bound to a ligand, it turns on (activates) a group of related proteins (a protein complex) called SMAD proteins. The activated SMAD protein complex is then transported into the cell's nucleus, where it regulates cell growth and division (proliferation) and the activity of particular genes.
Does the BMPR1A gene share characteristics with other genes?
The BMPR1A gene belongs to a family of genes called CD (CD molecules).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the BMPR1A gene related to health conditions?
- juvenile polyposis syndrome - caused by mutations in the BMPR1A gene
More than 60 mutations in the BMPR1A gene have been found to cause juvenile polyposis syndrome. Most BMPR1A gene mutations result in the production of an abnormally short, nonfunctional protein. As a result, the BMPR1A protein cannot bind to ligands in the TGF-β pathway. This disruption in binding interferes with the activation of the SMAD protein complex. This inactive complex is not transported to the nucleus, where it is needed to regulate cell growth and the activity of certain genes. Unregulated cell growth can lead to polyp formation in people with juvenile polyposis syndrome.
Where is the BMPR1A gene located?
Cytogenetic Location: 10q22.3
Molecular Location on chromosome 10: base pairs 88,516,395 to 88,684,944
The BMPR1A gene is located on the long (q) arm of chromosome 10 at position 22.3.
More precisely, the BMPR1A gene is located from base pair 88,516,395 to base pair 88,684,944 on chromosome 10.
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 BMPR1A?
You and your healthcare professional may find the following resources about BMPR1A helpful.
Educational resources - Information pages
- American Medical Association and National Coalition for Health Professional Education in Genetics: Understand the Basics of Genetic Testing for Hereditary Colorectal Cancer (http://www.nchpeg.org/documents/crc/Basics%20of%20genetic%20testing.pdf)
- Cancer Medicine (sixth edition, 2003): Familial Juvenile Polyposis Coli (http://www.ncbi.nlm.nih.gov/books/NBK12959/)
- Developmental Biology (sixth edition, 2000): The Smad pathway activated by TGF-β superfamily ligands (http://www.ncbi.nlm.nih.gov/books/NBK10043/figure/A1057/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1469/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for BMPR1A (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=657%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(BMPR1A%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/601299)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_BMPR1A.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=657)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=1076)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/657)
What other names do people use for the BMPR1A gene or gene products?
- activin A receptor, type II-like kinase 3
- bone morphogenetic protein receptor, type IA precursor
- serine/threonine-protein kinase receptor R5
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 BMPR1A?
cell membrane ;
growth factor ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, Back W, Kaufmann A, Keller KM, Blaas SH, Siebert R, Vogt S, Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007 Nov;44(11):702-9. Epub 2007 Sep 14. (http://www.ncbi.nlm.nih.gov/pubmed/17873119?dopt=Abstract)
- Calva-Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe JR. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet. 2009 Jan;75(1):79-85. doi: 10.1111/j.1399-0004.2008.01091.x. Epub 2008 Sep 24. (http://www.ncbi.nlm.nih.gov/pubmed/18823382?dopt=Abstract)
- Howe JR, Bair JL, Sayed MG, Anderson ME, Mitros FA, Petersen GM, Velculescu VE, Traverso G, Vogelstein B. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet. 2001 Jun;28(2):184-7. (http://www.ncbi.nlm.nih.gov/pubmed/11381269?dopt=Abstract)
- Howe JR, Sayed MG, Ahmed AF, Ringold J, Larsen-Haidle J, Merg A, Mitros FA, Vaccaro CA, Petersen GM, Giardiello FM, Tinley ST, Aaltonen LA, Lynch HT. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet. 2004 Jul;41(7):484-91. (http://www.ncbi.nlm.nih.gov/pubmed/15235019?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/657)
- OMIM: BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA (http://omim.org/entry/601299)
- Pyatt RE, Pilarski R, Prior TW. Mutation screening in juvenile polyposis syndrome. J Mol Diagn. 2006 Feb;8(1):84-8. (http://www.ncbi.nlm.nih.gov/pubmed/16436638?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.