CCDC80
Chr 3coiled-coil domain containing 80
Also known as: CL2, DRO1, LINC01279, SSG1, URB, okuribin
The CCDC80 protein promotes cell adhesion and matrix assembly through fibronectin and heparin binding activities in the extracellular matrix. Mutations cause autosomal recessive intellectual disability with short stature and behavioral abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.65).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CCDC80 · 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