HS3ST2
Chr 16heparan sulfate-glucosamine 3-sulfotransferase 2
Also known as: 30ST2, 3OST2
The protein is a heparan sulfate 3-O-sulfotransferase that catalyzes the transfer of sulfate groups to specific glucosamine residues on heparan sulfate chains, which are critical for various cellular signaling processes in the nervous system. Mutations cause autosomal recessive intellectual disability with behavioral abnormalities and seizures, typically manifesting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.686), suggesting some intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HS3ST2 · 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