GAL3ST2
Chr 2galactose-3-O-sulfotransferase 2
Also known as: GAL3ST-2, GP3ST
The protein encoded by this gene is a galactose-3-O-sulfotransferase that catalyzes the transfer of sulfate groups to terminal beta-galactosyl residues in oligosaccharides, participating in the sulfation of various glycan structures including those found in mucins and cancer antigens. Mutations in GAL3ST2 cause autosomal recessive intellectual disability with early-onset seizures and distinctive dysmorphic features. The gene shows very low constraint against loss-of-function variants (LOEUF 1.89), suggesting tolerance to protein-truncating changes in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function 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
222 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 88 | 0 | 88 |
Likely Pathogenic | 0 | 1 | 12 | 0 | 13 |
VUS | 0 | 86 | 22 | 0 | 108 |
Likely Benign | 0 | 6 | 1 | 0 | 7 |
Benign | 0 | 0 | 3 | 0 | 3 |
Conflicting | — | 1 | |||
| Total | 0 | 93 | 126 | 0 | 220 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GAL3ST2 · 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
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