Reviewed May 2012
What is the official name of the MAP2K2 gene?
The official name of this gene is “mitogen-activated protein kinase kinase 2.”
MAP2K2 is the gene's official symbol. The MAP2K2 gene is also known by other names, listed below.
What is the normal function of the MAP2K2 gene?
The MAP2K2 gene provides instructions for making a protein known as MEK2 protein kinase. This protein is part of a signaling pathway called the RAS/MAPK pathway, which transmits chemical signals from outside the cell to the cell's nucleus. RAS/MAPK signaling helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis).
The MAP2K2 gene is very similar to a gene called MAP2K1, which provides instructions for making a protein known as MEK1 protein kinase. Like MEK2 protein kinase, this protein functions as part of the RAS/MAPK signaling pathway. Together, the MEK1 and MEK2 protein kinases appear to be essential for normal development before birth and for survival after birth.
How are changes in the MAP2K2 gene related to health conditions?
- cardiofaciocutaneous syndrome - caused by mutations in the MAP2K2 gene
At least 13 mutations in the MAP2K2 gene have been identified in people with cardiofaciocutaneous syndrome. Most of these mutations change single protein building blocks (amino acids) in MEK2 protein kinase, although one mutation deletes several amino acids from the protein. These genetic changes abnormally activate MEK2 kinase, which disrupts the tightly regulated RAS/MAPK signaling pathway in cells throughout the body. The altered signaling interferes with the normal development of many organs and tissues, resulting in the characteristic features of cardiofaciocutaneous syndrome.
Where is the MAP2K2 gene located?
Cytogenetic Location: 19p13.3
Molecular Location on chromosome 19: base pairs 4,090,320 to 4,124,188
The MAP2K2 gene is located on the short (p) arm of chromosome 19 at position 13.3.
More precisely, the MAP2K2 gene is located from base pair 4,090,320 to base pair 4,124,188 on chromosome 19.
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 MAP2K2?
You and your healthcare professional may find the following resources about MAP2K2 helpful.
- Educational resources - Information pages
The Cell: A Molecular Approach (second edition, 2000): Ras, Raf, and the MAP Kinase Pathway (http://www.ncbi.nlm.nih.gov/books/NBK9870/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1186/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for MAP2K2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5605%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=((MAP2K2%5BTIAB%5D)%20OR%20(mitogen-activated%20protein%20kinase%20kinase%202%5BTIAB%5D))%20OR%20((MAPKK2%5BTIAB%5D)%20OR%20(MEK2%5BTIAB%5D)%20OR%20(MKK2%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%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/601263)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_MAP2K2.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=5605)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=6842)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5605)
What other names do people use for the MAP2K2 gene or gene products?
- dual specificity mitogen-activated protein kinase kinase 2
- ERK activator kinase 2
- MAPK/ERK kinase 2
- MAPK-ERK Kinase 2
- MAP kinase kinase 2
- mitogen-activated protein kinase kinase 2, p45
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 MAP2K2?
You may find definitions for these and many other terms in the Genetics Home Reference
- Duesbery N, Vande Woude G. BRAF and MEK mutations make a late entrance. Sci STKE. 2006 Mar 28;2006(328):pe15. (http://www.ncbi.nlm.nih.gov/pubmed/16569817?dopt=Abstract)
- Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A. 2007 Apr 15;143A(8):799-807. (http://www.ncbi.nlm.nih.gov/pubmed/17366577?dopt=Abstract)
- Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet. 2007 Dec;44(12):763-71. Epub 2007 Aug 17. (http://www.ncbi.nlm.nih.gov/pubmed/17704260?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5605)
- Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science. 2006 Mar 3;311(5765):1287-90. Epub 2006 Jan 26. (http://www.ncbi.nlm.nih.gov/pubmed/16439621?dopt=Abstract)
- Scholl FA, Dumesic PA, Barragan DI, Harada K, Bissonauth V, Charron J, Khavari PA. Mek1/2 MAPK kinases are essential for Mammalian development, homeostasis, and Raf-induced hyperplasia. Dev Cell. 2007 Apr;12(4):615-29. (http://www.ncbi.nlm.nih.gov/pubmed/17419998?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.