UGT2B4
Chr 4UDP glucuronosyltransferase family 2 member B4
Also known as: HLUG25, UDPGT2B4, UDPGTH1, UDPGTh-1, UGT2B11
The UGT2B4 protein is a UDP-glucuronosyltransferase that conjugates lipophilic substrates with glucuronic acid to facilitate their excretion, playing an essential role in drug detoxification and metabolism of endogenous compounds including estrogen hormones. Mutations in UGT2B4 have not been established as a cause of human disease based on the available data. The gene shows low constraint against loss-of-function variants (LOEUF 1.22), suggesting tolerance to such mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
UGT2B4 · 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