CCM2

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.

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)[1] Band 7p13 Start 44,999,475 bp[1] End 45,076,469 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 A1 Start 6,496,887 bp[2] End 6,546,744 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 83605 216527 Ensembl ENSG00000136280 ENSMUSG00000000378 UniProt Q9BSQ5 Q8K2Y9 RefSeq (mRNA) NM_001029835 NM_001167934 NM_001167935 NM_031443 NM_001363458 NM_001363459 NM_001190343 NM_001190344 NM_146014 RefSeq (protein) NP_001025006 NP_001161406 NP_001161407 NP_113631 NP_001350387 NP_001350388 NP_001177272 NP_001177273 NP_666126 Location (UCSC) Chr 7: 45 – 45.08 Mb Chr 11: 6.5 – 6.55 Mb PubMed search [3] [4]
Wikidata
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Protein

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]