CCM2

Chr 7p13

CCM2 scaffold protein

Aliases:: MGC4607, OSM
MANE:: ENST00000258781.11

OMIM: 607929 ↗NCBI: 83605 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CCM2 · Q9BSQ5

v62025-08-01

Predicted Aligned Error matrix for CCM2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.5/ 100

Low

444 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)28%
Low(50–70)15%
Very low(< 50)34%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cerebral vascular malformations
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

famililal cerebral cavernous malformations
0.76
cerebral cavernous malformation
0.56
neurodegenerative disease
0.36
cavernous hemangioma
0.34
coronary atherosclerosis
0.30
coronary artery disorder
0.28
hypothyroidism
0.23
diabetes mellitus
0.22
colorectal cancer
0.21
type 2 diabetes mellitus
0.20

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cerebral cavernous malformations 2 protein

Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock (By similarity)