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Gene Review

CCM2  -  cerebral cavernous malformation 2

Homo sapiens

Synonyms: C7orf22, Cerebral cavernous malformations 2 protein, MGC4607, Malcavernin, OSM, ...
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High impact information on CCM2

  • Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations [1].
  • In our cohort, mutation screening that included sequence and deletion analyses gave disease-gene frequencies of 40% for CCM1, 38% for CCM2, 6% for CCM3, and 16% with no mutation detected [1].
  • A common 77.6-kb deletion spanning CCM2 exons 2-10 was identified, which is present in 13% of our entire CCM cohort [1].
  • Haplotype analysis revealed that this CCM2 deletion occurred independently at least twice in our families [1].
  • We first reduced the size of the CCM2 interval from 22 cM to 7.5 cM by genetic linkage analysis [2].

Biological context of CCM2

  • CCM loci have already been assigned to chromosomes 7q (CCM1), 7p (CCM2), and 3q (CCM3) and have been identified in 40%, 20%, and 40%, respectively, of families with CCM [2].
  • A familial CCM2 missense mutation abrogates the CCM1/CCM2 interaction, suggesting that loss of this interaction may be critical in CCM pathogenesis [3].
  • Here, we use co-immunoprecipitation, fluorescence resonance energy transfer and subcellular localization strategies to show that the CCM1 gene product, KRIT1, interacts with the CCM2 gene product, malcavernin/OSM [3].
  • Subsequently, we generated CCM2-specific polyclonal antibodies and tested their specificity using transient transfection experiments in various cell lines [4].
  • Multilocus analysis yields a maximum lod score of 14.11, with 40% of kindreds linked to CCM1, 20% linked to CCM2 and 40% linked to CCM3, with highly significant evidence for linkage to three loci (linkage to three loci supported with an odds ratio of 2.6 x 10(5):1 over linkage to two loci and 1.6 x 10(9):1 over linkage to one locus) [5].

Anatomical context of CCM2


Associations of CCM2 with chemical compounds


Physical interactions of CCM2


Other interactions of CCM2

  • CCM2 and ICAP1 bound to CCM1 via their respective PTB domains differentially influence the subcellular localization of CCM1 [3].

Analytical, diagnostic and therapeutic context of CCM2


  1. Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations. Liquori, C.L., Berg, M.J., Squitieri, F., Leedom, T.P., Ptacek, L., Johnson, E.W., Marchuk, D.A. Am. J. Hum. Genet. (2007) [Pubmed]
  2. Mutations within the MGC4607 gene cause cerebral cavernous malformations. Denier, C., Goutagny, S., Labauge, P., Krivosic, V., Arnoult, M., Cousin, A., Benabid, A.L., Comoy, J., Frerebeau, P., Gilbert, B., Houtteville, J.P., Jan, M., Lapierre, F., Loiseau, H., Menei, P., Mercier, P., Moreau, J.J., Nivelon-Chevallier, A., Parker, F., Redondo, A.M., Scarabin, J.M., Tremoulet, M., Zerah, M., Maciazek, J., Tournier-Lasserve, E. Am. J. Hum. Genet. (2004) [Pubmed]
  3. CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Zawistowski, J.S., Stalheim, L., Uhlik, M.T., Abell, A.N., Ancrile, B.B., Johnson, G.L., Marchuk, D.A. Hum. Mol. Genet. (2005) [Pubmed]
  4. CCM2 expression parallels that of CCM1. Seker, A., Pricola, K.L., Guclu, B., Ozturk, A.K., Louvi, A., Gunel, M. Stroke (2006) [Pubmed]
  5. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Craig, H.D., Günel, M., Cepeda, O., Johnson, E.W., Ptacek, L., Steinberg, G.K., Ogilvy, C.S., Berg, M.J., Crawford, S.C., Scott, R.M., Steichen-Gersdorf, E., Sabroe, R., Kennedy, C.T., Mettler, G., Beis, M.J., Fryer, A., Awad, I.A., Lifton, R.P. Hum. Mol. Genet. (1998) [Pubmed]
  6. Mouse preimplantation embryo responses to culture medium osmolarity include increased expression of CCM2 and p38 MAPK activation. Fong, B., Watson, P.H., Watson, A.J. BMC Dev. Biol. (2007) [Pubmed]
  7. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Liquori, C.L., Berg, M.J., Siegel, A.M., Huang, E., Zawistowski, J.S., Stoffer, T., Verlaan, D., Balogun, F., Hughes, L., Leedom, T.P., Plummer, N.W., Cannella, M., Maglione, V., Squitieri, F., Johnson, E.W., Rouleau, G.A., Ptacek, L., Marchuk, D.A. Am. J. Hum. Genet. (2003) [Pubmed]
  8. Cerebral cavernous malformation 2 protein promotes smad ubiquitin regulatory factor 1-mediated RhoA degradation in endothelial cells. Crose, L.E., Hilder, T.L., Sciaky, N., Johnson, G.L. J. Biol. Chem. (2009) [Pubmed]
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