CCM2

CCM2
Identifiers
Aliases	CCM2, C7orf22, OSM, PP10187, CCM2 scaffolding protein, CCM2 scaffold protein
External IDs	OMIM: 607929; MGI: 2384924; GeneCards: CCM2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4FQN, 4TVQ, 4WJ7, 4Y5O, 4YKC, 4YKD, 4YL6
Gene location (Human)
Chr.	Chromosome 7 (human)
End	45,076,469 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	6,546,744 bp
RNA expression pattern
	Top expressed in
	putamen; ; nucleus accumbens; ; cingulate gyrus; ; anterior cingulate cortex; ; caudate nucleus; ; granulocyte; ; right frontal lobe; ; prefrontal cortex; ; Brodmann area 9; ; amygdala;
	Top expressed in
	mesenteric lymph nodes; ; olfactory tubercle; ; otic vesicle; ; medial geniculate nucleus; ; barrel cortex; ; Rostral migratory stream; ; thymus; ; otic placode; ; granulocyte; ; fossa;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	cytoplasm; mitochondrion; protein-containing complex;
Biological process	vasculogenesis; integrin-mediated signaling pathway; inner ear development; endothelial tube morphogenesis; multicellular organism development; development of the heart; cell-cell junction organization; blood vessel endothelial cell differentiation; blood vessel development; vasculature development; in utero embryonic development; stress-activated MAPK cascade; endothelial cell development; venous blood vessel morphogenesis; multicellular organism growth; pericardium development;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	83605
	216527
	ENSG00000136280
	ENSMUSG00000000378
	Q9BSQ5
	Q8K2Y9
NM_001029835; NM_001167934; NM_001167935; NM_031443; NM_001363458;
	NM_001363459
	NM_001190343; NM_001190344; NM_146014
NP_001025006; NP_001161406; NP_001161407; NP_113631; NP_001350387;
	NP_001350388
	NP_001177272; NP_001177273; NP_666126
	Wikidata
View/Edit Human	View/Edit Mouse

Malcavernin is a protein that in humans is encoded by the CCM2 gene.^[5]^[6]

Gene

The CCM2 gene contains 10 coding exons and an alternatively spliced exon 1B. This gene is located on chromosome 7p13.

Function

The function of malcavernin is to act as a scaffold for a variety of signaling complexes including p38 MAP Kinase.^[7] This protein is also involved in regulating the cellular localization of the KRIT1 protein^[8] and acts with the Rho Kinase signaling pathway to maintain normal blood vessel structure.^[9]^[10]

Clinical significance

Loss of function mutations on CCM2 lead to the onset of cerebral cavernous malformations (CCM) illness.^[11] Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.

Protein

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000136280 – Ensembl, May 2017
1 2 3 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.
↑ Craig HD, Gunel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, et al. (December 1998). "Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27". Human Molecular Genetics. 7 (12): 1851–1858. doi:10.1093/hmg/7.12.1851. PMID 9811928.
↑ "Entrez Gene: CCM2 cerebral cavernous malformation 2".
↑ Uhlik MT, Abell AN, Johnson NL, Sun W, Cuevas BD, Lobel-Rice KE, et al. (December 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. S2CID 1897773.
↑ Zawistowski JS, Stalheim L, Uhlik MT, Abell AN, Ancrile BB, Johnson GL, et al. (September 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.
↑ Borikova AL, Dibble CF, Sciaky N, Welch CM, Abell AN, Bencharit S, et al. (April 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.
↑ Whitehead KJ, Chan AC, Navankasattusas S, Koh W, London NR, Ling J, et al. (February 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.
↑ Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, et al. (December 2003). "Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations". American Journal of Human Genetics. 73 (6): 1459–1464. doi:10.1086/380314. PMC 1180409. PMID 14624391.

External links

Human CCM2 genome location and CCM2 gene details page in the UCSC Genome Browser.
Human OSM genome location and OSM gene details page in the UCSC Genome Browser.

Dupré N, Verlaan DJ, Hand CK, Laurent SB, Turecki G, Davenport WJ, et al. (May 2003). "Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation". The Canadian Journal of Neurological Sciences. Le Journal Canadien des Sciences Neurologiques. 30 (2): 122–128. doi:10.1017/S0317167100053385. PMID 12774951.
Denier C, Goutagny S, Labauge P, Krivosic V, Arnoult M, Cousin A, et al. (February 2004). "Mutations within the MGC4607 gene cause cerebral cavernous malformations". American Journal of Human Genetics. 74 (2): 326–337. doi:10.1086/381718. PMC 1181930. PMID 14740320.
Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, et al. (November 2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proceedings of the National Academy of Sciences of the United States of America. 101 (44): 15724–15729. Bibcode:2004PNAS..10115724W. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
Guclu B, Ozturk AK, Pricola KL, Seker A, Ozek M, Gunel M (November 2005). "Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations". Stroke. 36 (11): 2479–2480. doi:10.1161/01.STR.0000183616.99139.d3. hdl:11424/244289. PMID 16239636.
Seker A, Pricola KL, Guclu B, Ozturk AK, Louvi A, Gunel M (February 2006). "CCM2 expression parallels that of CCM1". Stroke. 37 (2): 518–523. doi:10.1161/01.STR.0000198835.49387.25. PMID 16373645.
Labauge P, Krivosic V, Denier C, Tournier-Lasserve E, Gaudric A (June 2006). "Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study". Archives of Ophthalmology. 124 (6). Chicago: 885–886. doi:10.1001/archopht.124.6.885. PMID 16769843.
Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, et al. (January 2007). "Deletions in CCM2 are a common cause of cerebral cavernous malformations". American Journal of Human Genetics. 80 (1): 69–75. doi:10.1086/510439. PMC 1785317. PMID 17160895.
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): 353–9, discussion 359. doi:10.1227/01.NEU.0000249268.11074.83. PMID 17290187. S2CID 42858113.
Gianfrancesco F, Cannella M, Martino T, Maglione V, Esposito T, Innocenzi G, et al. (July 2007). "Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations". American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 144B (5): 691–695. doi:10.1002/ajmg.b.30381. PMID 17440989. S2CID 25509373.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000136280 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000000378 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Craig_1998-5] Craig HD, Gunel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, et al. (December 1998). "Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27". Human Molecular Genetics. 7 (12): 1851–1858. doi:10.1093/hmg/7.12.1851. PMID 9811928.

[entrez-6] "Entrez Gene: CCM2 cerebral cavernous malformation 2".

[7] Uhlik MT, Abell AN, Johnson NL, Sun W, Cuevas BD, Lobel-Rice KE, et al. (December 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. S2CID 1897773.

[8] Zawistowski JS, Stalheim L, Uhlik MT, Abell AN, Ancrile BB, Johnson GL, et al. (September 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.

[9] Borikova AL, Dibble CF, Sciaky N, Welch CM, Abell AN, Bencharit S, et al. (April 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.

[10] Whitehead KJ, Chan AC, Navankasattusas S, Koh W, London NR, Ling J, et al. (February 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.

[11] Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, et al. (December 2003). "Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations". American Journal of Human Genetics. 73 (6): 1459–1464. doi:10.1086/380314. PMC 1180409. PMID 14624391.

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