Reviewed November 2013
What is the official name of the MMP2 gene?
The official name of this gene is “matrix metallopeptidase 2.”
MMP2 is the gene's official symbol. The MMP2 gene is also known by other names, listed below.
What is the normal function of the MMP2 gene?
The MMP2 gene provides instructions for making an enzyme called matrix metallopeptidase 2. This enzyme is produced in cells throughout the body and becomes part of the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. One of the major known functions of matrix metallopeptidase 2 is to cut (cleave) a protein called type IV collagen. Type IV collagen is a major structural component of basement membranes, which are thin, sheet-like structures that separate and support cells as part of the extracellular matrix.
The activity of matrix metallopeptidase 2 appears to be important for a variety of body functions. These include the breakdown of the uterine lining (endometrium) during menstruation, formation and growth of new blood vessels, repair of damaged tissues, and inflammation. Matrix metallopeptidase 2 also plays a role in bone remodeling, which is a normal process in which old bone is broken down and new bone is created to replace it.
How are changes in the MMP2 gene related to health conditions?
- multicentric osteolysis, nodulosis, and arthropathy - caused by mutations in the MMP2 gene
At least eight mutations in the MMP2 gene have been found to cause multicentric osteolysis, nodulosis, and arthropathy (MONA), a rare inherited bone disease that is characterized by the loss of bone tissue (osteolysis), particularly in the hands and feet, and related joint problems described as arthropathy. Each of the known MMP2 gene mutations eliminates the function of the matrix metallopeptidase 2 enzyme, preventing the normal cleavage of type IV collagen. It is unclear how a loss of enzyme activity leads to the specific features of MONA. Researchers suspect that it somehow disrupts the balance of new bone creation and the breakdown of existing bone during bone remodeling, resulting in a progressive loss of bone tissue. How a shortage of matrix metallopeptidase 2 leads to other features of MONA, such as firm lumps under the skin (subcutaneous nodules) and skin abnormalities, is unknown.
Where is the MMP2 gene located?
Cytogenetic Location: 16q12.2
Molecular Location on chromosome 16: base pairs 55,478,830 to 55,506,691
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/4313))
The MMP2 gene is located on the long (q) arm of chromosome 16 at position 12.2.
More precisely, the MMP2 gene is located from base pair 55,478,830 to base pair 55,506,691 on chromosome 16.
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 MMP2?
You and your healthcare professional may find the following resources about MMP2 helpful.
Educational resources - Information pages
- Molecular Biology of the Cell (fourth edition, 2002): The Extracellular Matrix of Animals (http://www.ncbi.nlm.nih.gov/books/NBK26810/)
- Molecular Cell Biology (fourth edition, 2000): Collagen: The Fibrous Proteins of the Matrix (http://www.ncbi.nlm.nih.gov/books/NBK21582/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for MMP2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4313%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=%28%28MMP2%5BTI%5D%29%20OR%20%28matrix%20metallopeptidase%202%5BTI%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/120360)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/MMP2ID41396ch16q13.html)
- HGNC Gene Family: Matrix metallopeptidases (http://www.genenames.org/cgi-bin/genefamilies/set/891)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=7166)
- MEROPS Peptidase Database (http://merops.sanger.ac.uk/cgi-bin/pepsum?id=M10.003)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4313)
What other names do people use for the MMP2 gene or gene products?
- 72 kDa gelatinase
- 72 kDa type IV collagenase
- collagenase type IV-A
- gelatinase A
- matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
- matrix metalloproteinase-2
- matrix metalloproteinase-II
- neutrophil gelatinase
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 MMP2?
basement membranes ;
bone remodeling ;
extracellular matrix ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Castberg FC, Kjaergaard S, Mosig RA, Lobl M, Martignetti C, Martignetti JA, Myrup C, Zak M. Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review. Eur J Pediatr. 2013 Dec;172(12):1657-63. doi: 10.1007/s00431-013-2102-8. Epub 2013 Jul 31. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23900523?dopt=Abstract)
- Martignetti JA, Aqeel AA, Sewairi WA, Boumah CE, Kambouris M, Mayouf SA, Sheth KV, Eid WA, Dowling O, Harris J, Glucksman MJ, Bahabri S, Meyer BF, Desnick RJ. Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet. 2001 Jul;28(3):261-5. (http://www.ncbi.nlm.nih.gov/pubmed/11431697?dopt=Abstract)
- Mosig RA, Dowling O, DiFeo A, Ramirez MC, Parker IC, Abe E, Diouri J, Aqeel AA, Wylie JD, Oblander SA, Madri J, Bianco P, Apte SS, Zaidi M, Doty SB, Majeska RJ, Schaffler MB, Martignetti JA. Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth. Hum Mol Genet. 2007 May 1;16(9):1113-23. Epub 2007 Mar 30. (http://www.ncbi.nlm.nih.gov/pubmed/17400654?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4313)
- Rouzier C, Vanatka R, Bannwarth S, Philip N, Coussement A, Paquis-Flucklinger V, Lambert JC. A novel homozygous MMP2 mutation in a family with Winchester syndrome. Clin Genet. 2006 Mar;69(3):271-6. (http://www.ncbi.nlm.nih.gov/pubmed/16542393?dopt=Abstract)
- Tuysuz B, Mosig R, Altun G, Sancak S, Glucksman MJ, Martignetti JA. A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects. Eur J Hum Genet. 2009 May;17(5):565-72. doi: 10.1038/ejhg.2008.204. Epub 2008 Nov 5. (http://www.ncbi.nlm.nih.gov/pubmed/18985071?dopt=Abstract)
- Zankl A, Bonafé L, Calcaterra V, Di Rocco M, Superti-Furga A. Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. Clin Genet. 2005 Mar;67(3):261-6. (http://www.ncbi.nlm.nih.gov/pubmed/15691365?dopt=Abstract)
- Zankl A, Pachman L, Poznanski A, Bonafé L, Wang F, Shusterman Y, Fishman DA, Superti-Furga A. Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. J Bone Miner Res. 2007 Feb;22(2):329-33. (http://www.ncbi.nlm.nih.gov/pubmed/17059372?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.