CCN1

Chr 1

cellular communication network factor 1

Also known as: CYR61, GIG1, IBP-10, IGFBP-10, IGFBP10

NCBI Gene: 3491 ENSG00000142871 UniProt: O00622 OMIM: 602369

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.

OMIM ResearchSummary from RefSeq, UniProt

The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation. [provided by RefSeq, Sep 2011]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.45

LOEUF

Mechanism· predicted