gene 1,202 words KG: CCM2 2026-03-27
kind:genesection:genestopic:alzheimerstopic:stroketopic:cerebral-vasculaturestate:published
Contents

CCM2 Gene

🧬 Gene Info
Gene SymbolCCM2
Full NameCerebral Cavernous Malformation 2
Chromosome7p13
Protein TypeScaffold Protein
Functionencodes an essential scaffold protein that plays a critical role in vascular development, endothelial cell function, and blood-brain barrier integrity.
Primary Expressionendothelial cells (arterial, venous, and capillary), brain (cortex, hippocampus, cerebellum), heart (myocardium and vasculature), and lung (pulmonary
Molecular Weight52 kDa
Amino Acids444 aa
Exons10
PathwaysTGF-β, MAPK
UniProt ID[Q9BSQ5](https://www.uniprot.org/uniprot/Q9BSQ5)
Ensembl IDENSG00000168781
GeneCardsCCM2
Human Protein AtlasCCM2
Associated DiseasesAlzheimer's disease, Stroke
DatabasesGeneCardsNCBI GeneHPASTRING

Knowledge Graph