CCN1
Chr 1cellular communication network factor 1
Also known as: CYR61, GIG1, IBP-10, IGFBP-10, IGFBP10
The CCN1 protein is a secreted growth factor that promotes cell adhesion, proliferation, angiogenesis, and wound healing through interactions with integrins and regulation of genes involved in vascular development and tissue remodeling. Mutations cause autosomal dominant retinal arterial macroaneurysm with supravalvular pulmonic stenosis, a condition affecting both ocular and cardiac vascular systems. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.45), suggesting intolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CCN1 · 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
External Resources
Links to major genomics databases and tools