UGT2A1
Chr 4UDP glucuronosyltransferase family 2 member A1 complex locus
Also known as: UDPGT2A1
This UDP-glucuronosyltransferase conjugates lipophilic substrates with glucuronic acid to facilitate their excretion, with particular importance in detoxifying drugs, xenobiotics, steroid hormones, and bile acids, especially in olfactory tissue. The gene shows very low constraint to loss-of-function mutations (LOEUF 1.533), and while polymorphisms may be associated with taste and smell alterations during SARS-CoV-2 infection, no established Mendelian pediatric neurogenetic disorders have been definitively linked to UGT2A1 mutations.
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
21 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 11 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 5 |
Likely Benign | — | — | — | — | 3 |
Benign | — | — | — | — | 1 |
| Total | — | 21 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UGT2A1 · 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