CCM2
Chr 7ADCCM2 scaffold protein
Also known as: C7orf22, OSM, PP10187
The encoded protein functions as a scaffold in endothelial cell signaling pathways and is essential for maintaining normal blood vessel integrity and endothelial cell-cell junctions. Mutations cause cerebral cavernous malformations, a condition characterized by abnormal clusters of dilated blood vessels in the brain and spinal cord that can lead to seizures, headaches, and neurological deficits. This condition follows autosomal dominant inheritance with variable age of onset and clinical severity.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CCM2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Daratumumab for Familial Cerebral Cavernous Malformations: A Single-Arm Safety and Efficacy Study
NOT YET RECRUITINGModifiers of Disease Severity in Cerebral Cavernous Malformations
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools