CCN3

Chr 8

cellular communication network factor 3

Also known as: IBP-9, IGFBP-9, IGFBP9, NOV, NOVh

NCBI Gene: 4856 ENSG00000136999 UniProt: P48745

CCN3 encodes a secreted cysteine-rich protein that regulates cellular processes including proliferation, differentiation, and survival by binding to integrins and membrane receptors, and plays essential roles in hematopoietic stem cell function, angiogenesis, and bone development. Mutations in CCN3 cause autosomal dominant elbow-knee synostosis, a skeletal malformation syndrome affecting joint development. The gene shows low constraint to loss-of-function variants, suggesting tolerance to such mutations.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.81

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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