B4GALT2
Chr 1beta-1,4-galactosyltransferase 2
Also known as: B4Gal-T2, B4Gal-T3, beta4Gal-T2
This gene encodes beta-1,4-galactosyltransferase 2, a Golgi membrane enzyme that synthesizes N-acetyllactosamine in glycolipids and glycoproteins and is responsible for producing complex-type N-linked oligosaccharides. Mutations in B4GALT2 cause autosomal recessive congenital disorder of glycosylation type IId, characterized by developmental delay, intellectual disability, and dysmorphic features. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.59), suggesting some tolerance to protein disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
B4GALT2 · 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