UGT2B28
Chr 4UDP glucuronosyltransferase family 2 member B28
The protein is a UDP-glucuronosyltransferase that catalyzes glucuronidation reactions, conjugating lipophilic substrates including steroid hormones, bile acids, and xenobiotics with glucuronic acid to facilitate their excretion and detoxification. This gene is not well-constrained against loss-of-function variants and no established Mendelian diseases have been associated with UGT2B28 mutations in the pediatric population. Clinical significance of variants in this gene remains unclear in the context of pediatric neurogenetic disorders.
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 (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
UGT2B28 · 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