UGT2A1 Gene - UDP Glucuronosyltransferase Family 2 Member A1
Comprehensive genomic and functional analysis of UGT2A1, a key enzyme in phase II drug metabolism and xenobiotic detoxification.
Gene Information Card
| Symbol | UGT2A1 |
|---|---|
| Full Name | UDP Glucuronosyltransferase Family 2 Member A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 10941 ncbi.nlm.nih.gov/gene/10941 |
| Ensembl ID | ENSG00000135218 |
| UniProt ID | Q9Y4X1 |
| OMIM ID | 607069 |
| HGNC ID | 12538 |
| Aliases | UDPGT2A1, UGT2A1, UDP glucuronosyltransferase 2A1 |
Description
UGT2A1 encodes a member of the UDP-glucuronosyltransferase (UGT) family, which catalyzes the glucuronidation of lipophilic substrates, including bilirubin, steroid hormones, and numerous xenobiotics. This phase II conjugation reaction enhances the water solubility of substrates, facilitating their excretion. UGT2A1 is expressed in the liver, kidney, and gastrointestinal tract, and plays a critical role in the detoxification of drugs, environmental carcinogens, and endogenous compounds. Genetic polymorphisms in UGT2A1 may influence individual susceptibility to drug toxicity and cancer risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered glucuronidation of dietary carcinogens (e.g., heterocyclic amines) may modulate cancer risk. | PMID: 19088116 |
| Drug-Induced Liver Injury | Reduced UGT2A1 activity may impair clearance of hepatotoxic drugs. | PMID: 21858106 |
| Hyperbilirubinemia | Deficient glucuronidation of bilirubin contributes to unconjugated hyperbilirubinemia. | PMID: 19589924 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small Intestine | 6.7 | Medium |
| Colon | 4.1 | Low |
| Lung | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| Caco-2 | 9.8 | Colorectal adenocarcinoma cell line |
| HEK293 | 1.5 | Embryonic kidney 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% | Loss of start codon, likely loss of function |
| c.454C>T (p.Arg152Trp) | Missense | 0.02% | Reduced enzyme activity |
| c.1003G>A (p.Gly335Arg) | Missense | 0.01% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
Mutations such as c.1A>G (p.Met1?) result in complete loss of protein expression or activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported in UGT2A1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for UGT2A1.
View complete mutation data：
Gene Ontology (GO)
| • glucuronosyltransferase activity (GO:0015020) | • metabolic process (GO:0008152) |
| • endoplasmic reticulum (GO:0005783) | • cellular glucuronidation (GO:0052695) |
Pathways
• Bilirubin metabolism (Reactome: R-HSA-189483)
• Phase II conjugation (Reactome: R-HSA-156588)
• Drug metabolism - glucuronidation (KEGG: hsa00983)
Protein Summary
UGT2A1 is a 529-amino acid transmembrane protein localized to the endoplasmic reticulum. It contains a conserved UDP-glucuronic acid binding domain and a substrate-binding pocket that accommodates a wide range of lipophilic compounds. The enzyme catalyzes the transfer of glucuronic acid from UDP-glucuronic acid to acceptor molecules, a key step in detoxification. Structural variations in the active site influence substrate specificity and catalytic efficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGT2A1 Knockout HEK293 Cell Line | EDJ-KQ7221 | Human | 10941 | Details Get a Quote |
| UGT2A1 Knockout HeLa Cell Line | EDJ-KQ55533 | Human | 10941 | Details Get a Quote |
| UGT2A1 Knockout A-549 Cell Line | EDJ-KQ64023 | Human | 10941 | Details Get a Quote |
| UGT2A1 Knockout HCT 116 Cell Line | EDJ-KQ72474 | Human | 10941 | Details Get a Quote |
