UGT2B7
UDP Glucuronosyltransferase Family 2 Member B7
Gene Information Card
| Symbol | UGT2B7 |
|---|---|
| Full Name | UDP Glucuronosyltransferase Family 2 Member B7 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 7364 ncbi.nlm.nih.gov/gene/7364 |
| Ensembl ID | ENSG00000171234 |
| UniProt ID | P16662 |
| OMIM ID | 600068 |
| HGNC ID | 12548 |
| Aliases | UGT2B9, UDPGT 2B7, UDP-glucuronosyltransferase 2B7 |
Description
UGT2B7 encodes a UDP-glucuronosyltransferase enzyme that catalyzes the glucuronidation of numerous endogenous substrates (e.g., bilirubin, steroid hormones) and xenobiotics (e.g., morphine, zidovudine, NSAIDs). This phase II conjugation reaction enhances the water solubility and elimination of substrates. UGT2B7 is highly expressed in the liver, kidney, and gastrointestinal tract, and its genetic variants contribute to interindividual variability in drug metabolism and toxicity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gilbert syndrome | UGT2B7 polymorphisms may modulate bilirubin glucuronidation, but primary defect is in UGT1A1. | PMID: 12442288 |
| Drug-induced liver injury (DILI) | Reduced UGT2B7 activity due to variants (e.g., *2 allele) may impair clearance of hepatotoxic drugs. | ClinVar: 18357 |
| Cancer (colorectal, breast) | Altered glucuronidation of carcinogens and steroid hormones; UGT2B7 expression changes observed. | COSMIC: UGT2B7 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Colon | 4.2 | Low |
| Stomach | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| Caco-2 | 5.8 | Colorectal adenocarcinoma cell line |
| HEK293 | 2.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.802C>T (p.Arg268Trp) | Missense | 0.5% in East Asian populations | Reduced enzyme activity |
| c.211G>T (p.Ala71Ser) | Missense | 1.2% in European populations | Altered substrate specificity |
| c.735A>G (p.Ile245Val) | Missense | 2.0% global | No significant functional change |
Mutation functional classification
Loss of Function (LOF)
c.802C>T (p.Arg268Trp) reduces glucuronidation activity by >50%.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not described for UGT2B7.
View complete mutation data：
Gene Ontology (GO)
| • glucuronosyltransferase activity (GO:0015020) | • metabolic process (GO:0008152) |
| • endoplasmic reticulum (GO:0005783) | • cellular glucuronidation (GO:0052695) |
Pathways
• Phase II conjugation (glucuronidation) – Reactome R-HSA-156588
• Bilirubin conjugation and elimination – KEGG hsa00982
Protein Summary
UGT2B7 is a 529-amino acid transmembrane protein localized to the endoplasmic reticulum. It contains a signal peptide, a substrate-binding domain, and a UDP-glucuronic acid binding site. The enzyme conjugates glucuronic acid to a wide range of lipophilic substrates, facilitating their excretion. UGT2B7 is one of the most important UGTs in drug metabolism, particularly for opioids and NSAIDs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGT2B7 Knockout HEK293 Cell Line | EDJ-KQ3005 | Human | 7364 | Details Get a Quote |
| UGT2B7 Knockout HeLa Cell Line | EDJ-KQ54724 | Human | 7364 | Details Get a Quote |
| UGT2B7 Knockout A-549 Cell Line | EDJ-KQ63215 | Human | 7364 | Details Get a Quote |
| UGT2B7 Knockout HCT 116 Cell Line | EDJ-KQ71681 | Human | 7364 | Details Get a Quote |
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