UGT2A3: UDP-Glucuronosyltransferase 2 Family, Polypeptide A3
Comprehensive genomic and functional analysis of UGT2A3, a phase II drug-metabolizing enzyme involved in glucuronidation of xenobiotics and endogenous compounds.
Gene Information Card
| Symbol | UGT2A3 |
|---|---|
| Full Name | UDP glucuronosyltransferase family 2 member A3 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 79799 ncbi.nlm.nih.gov/gene/79799 |
| Ensembl ID | ENSG00000135220 |
| UniProt ID | Q6UWM9 |
| OMIM ID | 606862 |
| HGNC ID | 12555 |
| Aliases | UDPGT 2A3, UDP-glucuronosyltransferase 2A3, UGT2A3 |
Description
UGT2A3 encodes a member of the UDP-glucuronosyltransferase (UGT) family, which catalyzes the glucuronidation of a wide range of endogenous and exogenous compounds, including bilirubin, steroid hormones, and drugs. This enzyme is primarily expressed in the liver and gastrointestinal tract and plays a key role in phase II drug metabolism and detoxification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperbilirubinemia, familial unconjugated (Gilbert syndrome) | Reduced UGT activity due to promoter polymorphisms; UGT2A3 may contribute to residual glucuronidation capacity. | PMID: 11854147 |
| Colorectal cancer | Altered UGT2A3 expression may affect detoxification of dietary carcinogens. | COSMIC: UGT2A3 mutations in colorectal tumors |
| Drug-induced liver injury | Variants in UGT2A3 may alter metabolism of hepatotoxic drugs. | ClinVar: rs17868324 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Small intestine | 8.2 | Medium |
| Colon | 6.1 | Medium |
| Kidney | 3.4 | Low |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| Caco-2 | 9.7 | Colorectal adenocarcinoma cell line |
| A549 | 2.1 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.454C>T (p.Arg152Trp) | missense | 0.02% | Reduced enzyme activity in vitro |
| c.1087G>A (p.Gly363Arg) | missense | 0.01% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
c.1A>G (p.Met1?) and other truncating variants are predicted to abolish enzyme activity.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants described.
View complete mutation data：
Gene Ontology (GO)
| • glucuronosyltransferase activity (GO:0015020) | • metabolic process (GO:0008152) |
| • endoplasmic reticulum membrane (GO:0005789) | • cellular glucuronidation (GO:0052695) |
Pathways
• Biotransformation Phase II (Reactome: R-HSA-156588)
• Glucuronidation (KEGG: map00983)
• Drug metabolism - other enzymes (KEGG: map00983)
Protein Summary
UGT2A3 is a 529-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the transfer of glucuronic acid from UDP-glucuronic acid to a variety of lipophilic substrates, enhancing their water solubility and excretion. The protein contains a conserved UDP-glucuronosyltransferase domain and is N-glycosylated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGT2A3 Knockout HEK293 Cell Line | EDJ-KQ16024 | Human | 79799 | Details Get a Quote |
| UGT2A3 Knockout HeLa Cell Line | EDJ-KQ57231 | Human | 79799 | Details Get a Quote |
| UGT2A3 Knockout A-549 Cell Line | EDJ-KQ65744 | Human | 79799 | Details Get a Quote |
| UGT2A3 Knockout HCT 116 Cell Line | EDJ-KQ74161 | Human | 79799 | Details Get a Quote |
