Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

CCM2

Reviewed November 2006

What is the official name of the CCM2 gene?

The official name of this gene is “cerebral cavernous malformation 2.”

CCM2 is the gene's official symbol. The CCM2 gene is also known by other names, listed below.

What is the normal function of the CCM2 gene?

The CCM2 gene provides instructions for making a protein called malcavernin. The structure of this protein leads researchers to believe that malcavernin may play a critical role in the interaction between the cells forming blood vessels and the nervous tissue surrounding them. This interaction guides the movement and structure of cells that will form mature blood vessels in the brain and spinal cord (the central nervous system). Research suggests that malcalvernin may also help maintain the structure and function of these blood vessels after they have formed.

How are changes in the CCM2 gene related to health conditions?

cerebral cavernous malformation - caused by mutations in the CCM2 gene

Dozens of mutations have been identified in the CCM2 gene. Most of these mutations result in an abnormally shortened or malformed malcavernin protein. These altered versions of the protein probably do not allow the cells involved in blood vessel formation to interact properly with their surrounding tissues, leading to the signs and symptoms of cerebral cavernous malformations.

Mutations in the CCM2 gene may account for up to 38 percent of familial cerebral cavernous malformation cases.

Where is the CCM2 gene located?

Cytogenetic Location: 7p13

Molecular Location on chromosome 7: base pairs 45,039,344 to 45,116,068

The CCM2 gene is located on the short (p) arm of chromosome 7 at position 13.

The CCM2 gene is located on the short (p) arm of chromosome 7 at position 13.

More precisely, the CCM2 gene is located from base pair 45,039,344 to base pair 45,116,068 on chromosome 7.

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 CCM2?

You and your healthcare professional may find the following resources about CCM2 helpful.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ccm)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/156869)

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=((CCM2%5BALL%5D)%20OR%20(cerebral%20cavernous%20malformation%202%5BALL%5D)%20OR%20(CCM2%20gene%5BALL%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/607929)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_CCM2.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/83605)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=83605)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=21708)

What other names do people use for the CCM2 gene or gene products?

  • C7orf22
  • CCM2_HUMAN
  • chromosome 7 open reading frame 22
  • MGC4067
  • MGC4607

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 CCM2?

cavernous ; cell ; central nervous system ; chromosome ; familial ; gene ; malformation ; mutation ; nervous system ; open reading frame ; protein ; reading frame ; sign ; symptom ; tissue

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

References

  • Craig HD, Günel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Steichen-Gersdorf E, Sabroe R, Kennedy CT, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet. 1998 Nov;7(12):1851-8. (http://www.ncbi.nlm.nih.gov/pubmed/9811928?dopt=Abstract)
  • Denier C, Goutagny S, Labauge P, Krivosic V, Arnoult M, Cousin A, Benabid AL, Comoy J, Frerebeau P, Gilbert B, Houtteville JP, Jan M, Lapierre F, Loiseau H, Menei P, Mercier P, Moreau JJ, Nivelon-Chevallier A, Parker F, Redondo AM, Scarabin JM, Tremoulet M, Zerah M, Maciazek J, Tournier-Lasserve E; Société Française de Neurochirurgie. Mutations within the MGC4607 gene cause cerebral cavernous malformations. Am J Hum Genet. 2004 Feb;74(2):326-37. Epub 2004 Jan 22. (http://www.ncbi.nlm.nih.gov/pubmed/14740320?dopt=Abstract)
  • Dupré N, Verlaan DJ, Hand CK, Laurent SB, Turecki G, Davenport WJ, Acciarri N, Dichgans J, Ohkuma A, Siegel AM, Rouleau GA. Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation. Can J Neurol Sci. 2003 May;30(2):122-8. (http://www.ncbi.nlm.nih.gov/pubmed/12774951?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/83605)
  • Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet. 2003 Dec;73(6):1459-64. Epub 2003 Nov 17. (http://www.ncbi.nlm.nih.gov/pubmed/14624391?dopt=Abstract)
  • Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. Deletions in CCM2 are a common cause of cerebral cavernous malformations. Am J Hum Genet. 2007 Jan;80(1):69-75. Epub 2006 Nov 14. (http://www.ncbi.nlm.nih.gov/pubmed/17160895?dopt=Abstract)
  • OMIM: CCM2 GENE (http://omim.org/entry/607929)
  • Plummer NW, Zawistowski JS, Marchuk DA. Genetics of cerebral cavernous malformations. Curr Neurol Neurosci Rep. 2005 Sep;5(5):391-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16131422?dopt=Abstract)
  • Seker A, Pricola KL, Guclu B, Ozturk AK, Louvi A, Gunel M. CCM2 expression parallels that of CCM1. Stroke. 2006 Feb;37(2):518-23. Epub 2005 Dec 22. (http://www.ncbi.nlm.nih.gov/pubmed/16373645?dopt=Abstract)
  • Verlaan DJ, Laurent SB, Rochefort DL, Liquori CL, Marchuk DA, Siegel AM, Rouleau GA. CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations. Ann Neurol. 2004 May;55(5):757-8. (http://www.ncbi.nlm.nih.gov/pubmed/15122722?dopt=Abstract)
  • Zawistowski JS, Stalheim L, Uhlik MT, Abell AN, Ancrile BB, Johnson GL, Marchuk DA. CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Hum Mol Genet. 2005 Sep 1;14(17):2521-31. Epub 2005 Jul 21. (http://www.ncbi.nlm.nih.gov/pubmed/16037064?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: November 2006
Published: May 21, 2012