CCN4
Chr 8cellular communication network factor 4
Also known as: WISP1, WISP1-OT1, WISP1-UT1, WISP1c, WISP1i, WISP1tc
The CCN4 protein is a downstream regulator in the Wnt signaling pathway that promotes cell survival by attenuating p53-mediated apoptosis and upregulating anti-apoptotic proteins. Mutations in CCN4 cause autosomal recessive spondylomegaepiphyseal dysplasia with upper limb mesomelia, joint laxity, and distinctive facies, a skeletal dysplasia syndrome affecting bone and cartilage development. The gene shows low constraint to loss-of-function variation (pLI near 0), consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CCN4 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools