[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/ccm2-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki24\/ccm2-wikipedia\/","headline":"CCM2 – Wikipedia","name":"CCM2 – Wikipedia","description":"before-content-x4 From Wikipedia, the free encyclopedia after-content-x4 Protein-coding gene in the species Homo sapiens The CCM2 gene contains 10 coding","datePublished":"2015-10-12","dateModified":"2015-10-12","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","url":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","height":"1","width":"1"},"url":"https:\/\/wiki.edu.vn\/en\/wiki24\/ccm2-wikipedia\/","wordCount":6208,"articleBody":"     (adsbygoogle = window.adsbygoogle || []).push({});before-content-x4From Wikipedia, the free encyclopedia       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Protein-coding gene in the species Homo sapiensThe 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.[5]  Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Table of ContentsProtein[edit]Advocacy[edit]References[edit]External links[edit]Further reading[edit]Protein[edit]Malcavernin is a protein that in humans is encoded by the CCM2 gene.[6][7] The normal function of malcavernin is to act as a scaffold for a variety of signaling complexes including p38 MAP Kinase.[8]  This protein is also involved in regulating the cellular localization of the KRIT1 protein[9] and acts with the Rho Kinase signaling pathway to maintain normal blood vessel structure.[10][11]Advocacy[edit]For more information and support for Cerebral Cavernous Malformations Patients and their families, please visit the Angioma Alliance website: www.angioma.org       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4References[edit]^ a b c GRCh38: Ensembl release 89: ENSG00000136280 – Ensembl, May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000378 – Ensembl, May 2017^ “Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ “Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ 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\u20131464. doi:10.1086\/380314. PMC\u00a01180409. PMID\u00a014624391.^ 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\u20138. doi:10.1093\/hmg\/7.12.1851. PMID\u00a09811928.^ “Entrez Gene: CCM2 cerebral cavernous malformation 2”.^ 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\u2013MEKK3\u2013MKK3 scaffolding for p38 MAPK activation during hyperosmotic shock”. Nature Cell Biology. 5 (12): 1104\u20131110. doi:10.1038\/ncb1071. PMID\u00a014634666. S2CID\u00a01897773.^ 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\u20132531. doi:10.1093\/hmg\/ddi256. PMID\u00a016037064.^ 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\u201311764. doi:10.1074\/jbc.C109.097220. PMC\u00a02852911. PMID\u00a020181950.^ 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\u2013184. doi:10.1038\/nm.1911. PMC\u00a02767168. PMID\u00a019151728.External links[edit]Further reading[edit]Strausberg RL, Feingold EA, Grouse LH,  et\u00a0al. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899\u2013903. Bibcode:2002PNAS…9916899M. doi:10.1073\/pnas.242603899. PMC\u00a0139241. PMID\u00a012477932.Scherer SW, Cheung J, MacDonald JR,  et\u00a0al. (2003). “Human Chromosome 7: DNA Sequence and Biology”. Science. 300 (5620): 767\u201372. Bibcode:2003Sci…300..767S. doi:10.1126\/science.1083423. PMC\u00a02882961. PMID\u00a012690205.Dupr\u00e9 N, Verlaan DJ, Hand CK,  et\u00a0al. (2003). “Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation”. The Canadian Journal of Neurological Sciences. 30 (2): 122\u20138. doi:10.1017\/S0317167100053385. PMID\u00a012774951.Liquori CL, Berg MJ, Siegel AM,  et\u00a0al. (2004). “Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations”. Am. J. Hum. Genet. 73 (6): 1459\u201364. doi:10.1086\/380314. PMC\u00a01180409. PMID\u00a014624391.Ota T, Suzuki Y, Nishikawa T,  et\u00a0al. (2004). “Complete sequencing and characterization of 21,243 full-length human cDNAs”. Nat. Genet. 36 (1): 40\u20135. doi:10.1038\/ng1285. PMID\u00a014702039.Denier C, Goutagny S, Labauge P,  et\u00a0al. (2004). “Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations”. Am. J. Hum. Genet. 74 (2): 326\u201337. doi:10.1086\/381718. PMC\u00a01181930. PMID\u00a014740320.Gerhard DS, Wagner L, Feingold EA,  et\u00a0al. (2004). “The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121\u20137. doi:10.1101\/gr.2596504. PMC\u00a0528928. PMID\u00a015489334.Wan D, Gong Y, Qin W,  et\u00a0al. (2004). “Large-scale cDNA transfection screening for genes related to cancer development and progression”. Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724\u20139. Bibcode:2004PNAS..10115724W. doi:10.1073\/pnas.0404089101. PMC\u00a0524842. PMID\u00a015498874.Zawistowski JS, Stalheim L, Uhlik MT,  et\u00a0al. (2005). “CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis”. Hum. Mol. Genet. 14 (17): 2521\u201331. doi:10.1093\/hmg\/ddi256. PMID\u00a016037064.Guclu B, Ozturk AK, Pricola KL,  et\u00a0al. (2006). “Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations”. Stroke. 36 (11): 2479\u201380. doi:10.1161\/01.STR.0000183616.99139.d3. PMID\u00a016239636.Seker A, Pricola KL, Guclu B,  et\u00a0al. (2006). “CCM2 expression parallels that of CCM1”. Stroke. 37 (2): 518\u201323. doi:10.1161\/01.STR.0000198835.49387.25. PMID\u00a016373645.Labauge P, Krivosic V, Denier C,  et\u00a0al. (2006). “Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study”. Arch. Ophthalmol. 124 (6): 885\u20136. doi:10.1001\/archopht.124.6.885. PMID\u00a016769843.Liquori CL, Berg MJ, Squitieri F,  et\u00a0al. (2007). “Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations”. Am. J. Hum. Genet. 80 (1): 69\u201375. doi:10.1086\/510439. PMC\u00a01785317. PMID\u00a017160895.Zhang J, Rigamonti D, Dietz HC, Clatterbuck RE (2007). “Interaction between krit1 and malcavernin: implications for the pathogenesis of cerebral cavernous malformations”. Neurosurgery. 60 (2): 353\u20139, discussion 359. doi:10.1227\/01.NEU.0000249268.11074.83. PMID\u00a017290187. S2CID\u00a042858113.Gianfrancesco F, Cannella M, Martino T,  et\u00a0al. (2007). “Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations”. Am. J. Med. Genet. B Neuropsychiatr. Genet. 144 (5): 691\u20135. doi:10.1002\/ajmg.b.30381. PMID\u00a017440989. S2CID\u00a025509373.       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4"},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/ccm2-wikipedia\/#breadcrumbitem","name":"CCM2 – Wikipedia"}}]}]