THBS2
Chr 6ADthrombospondin 2
Also known as: EDSCLL3, TSP2
The protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions and functions as an inhibitor of angiogenesis. Mutations cause Ehlers-Danlos syndrome, classic-like type 3, which primarily affects connective tissue and increases susceptibility to lumbar disc herniation. The gene is inherited in an autosomal dominant pattern and is highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
THBS2 · 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