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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CCM2
CCM2 scaffold protein
Chromosome 7 Β· 7p13
NCBI Gene: 83605Ensembl: ENSG00000136280.18HGNC: HGNC:21708UniProt: B7Z8D5
89PubMed Papers
21Diseases
0Drugs
113Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endothelial tube morphogenesisprotein bindingcytoplasmmitochondrionfamililal cerebral cavernous malformationscerebral cavernous malformationneurodegenerative diseaseCavernous Hemangioma
✦AI Summary

CCM2 is a scaffold protein that plays a crucial role in cerebral cavernous malformation (CCM) signaling, which regulates heart and vessel formation and integrity 1. The protein functions as a key component of a three-protein complex with CCM1/KRIT1 and CCM3/PDCD10, where loss-of-function mutations in any of these genes cause familial autosomal dominant CCMs 1. CCM2 directly binds to MEKK3 (MAP3K3), and disruption of this interaction leads to pathogenic gain of MEKK3 signaling and increased expression of transcription factors KLF2 and KLF4 in endothelial cells 2. This aberrant signaling cascade drives CCM lesion formation through multiple mechanisms, including increased endothelial nitric oxide production, astrocyte VEGF synthesis, and blood-brain barrier dysfunction 3. Disease-causing CCM2 mutations specifically abrogate the MEKK3 interaction without affecting CCM complex formation, demonstrating the critical importance of this scaffold function 2. Familial CCMs due to CCM2 mutations account for approximately 20% of inherited cases, typically presenting with multiple lesions and symptoms including seizures, cerebral hemorrhage, and focal neurological deficits 4. The CCM signaling pathway has also been implicated in coronary artery disease risk, highlighting broader cardiovascular functions 5.

Sources cited
1
CCM2 is part of CCM signaling pathway and three-protein complex causing familial CCMs
PMID: 38749279
2
CCM2 binds MEKK3 and disease mutations abrogate this interaction leading to gain of MEKK3-KLF2/4 signaling
PMID: 27027284
3
CCM signaling disruption leads to endothelial nitric oxide production and astrocyte VEGF synthesis
PMID: 34043589
4
CCM2 mutations cause ~20% of familial CCM cases with multiple lesions and neurological symptoms
PMID: 16100539
5
CCM signaling pathway including CCM2 is implicated in coronary artery disease risk
PMID: 38326615
Disease Associationsβ“˜21
famililal cerebral cavernous malformationsOpen Targets
0.74Strong
cerebral cavernous malformationOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.36Weak
Cavernous HemangiomaOpen Targets
0.34Weak
coronary atherosclerosisOpen Targets
0.33Weak
coronary artery diseaseOpen Targets
0.29Weak
colorectal cancerOpen Targets
0.24Weak
diabetes mellitusOpen Targets
0.23Weak
Abnormality of the skeletal systemOpen Targets
0.21Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
coronary artery bypassOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
angina pectorisOpen Targets
0.18Weak
vascular dementiaOpen Targets
0.14Weak
vasculitisOpen Targets
0.12Weak
cancerOpen Targets
0.08Suggestive
Familial cerebral saccular aneurysmOpen Targets
0.07Suggestive
Hereditary cerebral hemorrhage with amyloidosisOpen Targets
0.05Suggestive
Hereditary cerebral hemorrhage with amyloidosis, Piedmont typeOpen Targets
0.05Suggestive
aneurysm, intracranial berry, 12Open Targets
0.05Suggestive
Cerebral cavernous malformations 2UniProt
Pathogenic Variants113
NM_031443.4(CCM2):c.30+1G>APathogenic
not provided|Cerebral cavernous malformation 2
β˜…β˜…β˜†β˜†2026
NM_031443.4(CCM2):c.839C>G (p.Ser280Ter)Pathogenic
Cerebral cavernous malformation 2|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 280
NM_031443.4(CCM2):c.30+5_30+6delinsTTPathogenic
Cerebral cavernous malformation 2|not provided|CCM2-related disorder
β˜…β˜…β˜†β˜†2025
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)Pathogenic
not provided|Cerebral cavernous malformation 2|CCM2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 19
NM_031443.4(CCM2):c.1234dup (p.Arg412fs)Pathogenic
not provided|Cerebral cavernous malformation 2
β˜…β˜…β˜†β˜†2025β†’ Residue 412
NM_031443.4(CCM2):c.643C>T (p.Gln215Ter)Pathogenic
Cerebral cavernous malformation 2
β˜…β˜…β˜†β˜†2025β†’ Residue 215
NM_031443.4(CCM2):c.473-1G>TPathogenic
not provided|Cerebral cavernous malformation 2
β˜…β˜…β˜†β˜†2025
NM_031443.4(CCM2):c.1A>G (p.Met1Val)Pathogenic
Cerebral cavernous malformation 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_031443.4(CCM2):c.475C>T (p.Gln159Ter)Pathogenic
not provided|Cerebral cavernous malformation 2
β˜…β˜…β˜†β˜†2025β†’ Residue 159
NM_031443.4(CCM2):c.745+1G>TPathogenic
Cerebral cavernous malformation 2|not provided
β˜…β˜…β˜†β˜†2025
NM_031443.4(CCM2):c.134_135del (p.Val45fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 45
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs)Pathogenic
Cerebral cavernous malformation 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 417
NM_031443.4(CCM2):c.790del (p.Glu264fs)Pathogenic
not provided|Cerebral cavernous malformation 2
β˜…β˜…β˜†β˜†2024β†’ Residue 264
NM_031443.4(CCM2):c.71del (p.Gly24fs)Pathogenic
not provided|Cerebral cavernous malformation 2
β˜…β˜…β˜†β˜†2024β†’ Residue 24
NM_031443.4(CCM2):c.609G>A (p.Lys203=)Pathogenic
not provided|Cerebral cavernous malformation 2
β˜…β˜…β˜†β˜†2023β†’ Residue 203
NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter)Pathogenic
Cerebral cavernous malformation 2|CCM2-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 360
NM_031443.4(CCM2):c.652C>T (p.Gln218Ter)Pathogenic
Cerebral cavernous malformation 2|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 218
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)Pathogenic
not provided|Cerebral cavernous malformation 2
β˜…β˜…β˜†β˜†2023β†’ Residue 57
NM_031443.4(CCM2):c.169_172del (p.Arg57fs)Pathogenic
not provided|Cerebral cavernous malformation 2
β˜…β˜…β˜†β˜†2022β†’ Residue 57
NM_031443.4(CCM2):c.472+1G>CPathogenic
Cerebral cavernous malformation 2
β˜…β˜…β˜†β˜†2022
View on ClinVar β†—
Related Genes
ITGB1BP1Protein interaction99%RHOAProtein interaction99%MAP3K3Protein interaction98%MAP2K3Protein interaction98%SMURF1Protein interaction91%RAP1AProtein interaction91%
Tissue Expression6 tissues
Liver
100%
Lung
52%
Brain
36%
Heart
31%
Ovary
25%
Bone Marrow
23%
Gene Interaction Network
Click a node to explore
CCM2ITGB1BP1RHOAMAP3K3MAP2K3SMURF1RAP1A
PROTEIN STRUCTURE
Preparing viewer…
PDB4FQN Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.75LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.53 [0.38–0.75]
RankingsWhere CCM2 stands among ~20K protein-coding genes
  • #5,353of 20,598
    Most Researched89
  • #693of 5,498
    Most Pathogenic Variants113 Β· top quartile
  • #5,984of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedCCM2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Convergence of coronary artery disease genes onto endothelial cell programs.
PMID: 38326615
Nature Β· 2024
1.00
2
Cerebral cavernous malformations - An overview on genetics, clinical aspects and therapeutic strategies.
PMID: 38749279
J Neurol Sci Β· 2024
0.90
3
Astrocytes propel neurovascular dysfunction during cerebral cavernous malformation lesion formation.
PMID: 34043589
J Clin Invest Β· 2021
0.80
4
Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations.
PMID: 39402138
EMBO Mol Med Β· 2024
0.70
5
Somatic
PMID: 34496175
N Engl J Med Β· 2021
0.60