CCN2

Chr 6

cellular communication network factor 2

Also known as: CTGF, HCS24, IBP-8, IGFBP8, KMD, NOV2, SEMDLSL

NCBI Gene: 1490ENSG00000118523UniProt: P29279

The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtKyphomelic dysplasia
UniProtSpondyloepimetaphyseal dysplasia, Li-Shao-Li type
1
Active trials
107
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.06
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.06LOEUF
pLI 0.001
Z-score 1.42
OE 0.56 (0.32–1.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.52Z-score
OE missense 0.89 (0.78–1.01)
163 obs / 182.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.32–1.06)
0≤0.351.4
Missense OE?0.89 (0.78–1.01)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 7 / 12.4Missense obs/exp: 163 / 182.8Syn Z: 0.98

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCN2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients