UGT2B15
Chr 4UDP glucuronosyltransferase family 2 member B15
Also known as: HLUG4, UDPGT 2B8, UDPGT2B15, UDPGTH3, UGT2B8
This gene encodes UDP-glucuronosyltransferase 2B15, an enzyme that conjugates glucuronic acid to steroid hormones (testosterone, estradiol) and xenobiotic compounds to facilitate their elimination from the body. The gene shows very low constraint against loss-of-function variants (high LOEUF score), and no definitive disease associations have been established from the provided information. While UGT2B15 is important for detoxification and hormone metabolism, pathogenic variants causing pediatric neurologic disease are not documented in this dataset.
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
UGT2B15 · 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
External Resources
Links to major genomics databases and tools