CCM2 information

CCM2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4FQN, 4TVQ, 4WJ7, 4Y5O, 4YKC, 4YKD, 4YL6
Identifiers
Aliases	CCM2, C7orf22, OSM, PP10187, CCM2 scaffolding protein, CCM2 scaffold protein
External IDs	OMIM: 607929; MGI: 2384924; HomoloGene: 12868; GeneCards: CCM2; OMA:CCM2 - orthologs
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; heart development; 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
	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

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.^[5] Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.

^ ^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): 1459–1464. doi:10.1086/380314. PMC 1180409. PMID 14624391.

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

[refGRCm38Ensembl-2] 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.

[5] 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.

CCM2 information

and 5 Related for: CCM2 information

CCM2

Cavernous hemangioma

Central nervous system cavernous hemangioma

Hydrological code

KRIT1