CCM2

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Cerebral cavernous malformation 2
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CCM2 ; C7orf22; OSM
External IDs OMIM607929 MGI2384924 HomoloGene12868 GeneCards: CCM2 Gene
Orthologs
Species Human Mouse
Entrez 83605 216527
Ensembl ENSG00000136280 ENSMUSG00000000378
UniProt Q9BSQ5 Q8K2Y9
RefSeq (mRNA) NM_001029835 NM_001190343
RefSeq (protein) NP_001025006 NP_001177272
Location (UCSC) Chr 7:
45.04 – 45.12 Mb
Chr 11:
6.55 – 6.6 Mb
PubMed search [1] [2]

The CCM2 gene contains 10 coding exons and an alternatively spliced exon 1B. This gene is located on chromosome 7p13 and loss of function mutations on CCM2 lead to the onset of Cerebral Cavernous Malformations (CCM) illness.[1] Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.

Protein[edit]

Malcavernin is a protein that in humans is encoded by the CCM2 gene.[2][3] The normal function of malcavernin is to act as a scaffold for a variety of signaling complexes including p38 MAP Kinase.[4] This protein is also involved in regulating the cellular localization of the KRIT1 protein[5] and acts with the Rho Kinase signaling pathway to maintain normal blood vessel structure.[6][7]

Advocacy[edit]

For more information and support for Cerebral Cavernous Malformations Patients and their families, please visit the Angioma Alliance website: www.angioma.org


References[edit]

  1. ^ Liquori, C. L.; Berg, M. J.; Siegel, A. M.; Huang, E.; Zawistowski, J. S.; Stoffer, T. P.; 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. (2003). "Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations". The American Journal of Human Genetics 73 (6): 1459–1464. doi:10.1086/380314. PMC 1180409. PMID 14624391.  edit
  2. ^ Craig HD, Gunel 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 (Dec 1998). "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 7 (12): 1851–8. doi:10.1093/hmg/7.12.1851. PMID 9811928. 
  3. ^ "Entrez Gene: CCM2 cerebral cavernous malformation 2". 
  4. ^ Uhlik, M. T.; Abell, A. N.; Johnson, N. L.; Sun, W.; Cuevas, B. D.; Lobel-Rice, K. E.; Horne, E. A.; Dell'Acqua, M. L.; Johnson, G. L. (2003). "Rac–MEKK3–MKK3 scaffolding for p38 MAPK activation during hyperosmotic shock". Nature Cell Biology 5 (12): 1104–1110. doi:10.1038/ncb1071. PMID 14634666.  edit
  5. ^ Zawistowski, J. S.; Stalheim, L.; Uhlik, M. T.; Abell, A. N.; Ancrile, B. B.; Johnson, G. L.; Marchuk, D. A. (2005). "CCM1 and CCM2 protein interactions in cell signaling: Implications for cerebral cavernous malformations pathogenesis". Human Molecular Genetics 14 (17): 2521–2531. doi:10.1093/hmg/ddi256. PMID 16037064.  edit
  6. ^ Borikova, A. L.; Dibble, C. F.; Sciaky, N.; Welch, C. M.; Abell, A. N.; Bencharit, S.; Johnson, G. L. (2010). "Rho Kinase Inhibition Rescues the Endothelial Cell Cerebral Cavernous Malformation Phenotype". The Journal of Biological Chemistry 285 (16): 11760–11764. doi:10.1074/jbc.C109.097220. PMC 2852911. PMID 20181950.  edit
  7. ^ Whitehead, K. J.; Chan, A. C.; Navankasattusas, S.; Koh, W.; London, N. R.; Ling, J.; Mayo, A. H.; Drakos, S. G.; Jones, D. A.; Zhu, G. E.; Marchuk, D. Y.; Davis, G. E.; Li, D. Y. (2009). "The Cerebral Cavernous Malformation signaling pathway promotes vascular integrity via Rho GTPases". Nature Medicine 15 (2): 177–184. doi:10.1038/nm.1911. PMC 2767168. PMID 19151728.  edit

Further reading[edit]