UGT2B28 Gene - UDP Glucuronosyltransferase Family 2 Member B28
Comprehensive genomic and functional analysis of UGT2B28, a phase II drug-metabolizing enzyme involved in glucuronidation of steroids and xenobiotics.
Gene Information Card
| Symbol | UGT2B28 |
|---|---|
| Full Name | UDP glucuronosyltransferase family 2 member B28 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 54490 ncbi.nlm.nih.gov/gene/54490 |
| Ensembl ID | ENSG00000170962 |
| UniProt ID | Q9BY64 |
| OMIM ID | 606457 |
| HGNC ID | 12555 |
| Aliases | UDPGT 2B28, UGT2B28, UGT2B9 |
Description
UGT2B28 encodes a member of the UDP-glucuronosyltransferase (UGT) family, which catalyzes the transfer of glucuronic acid from UDP-glucuronic acid to a variety of endogenous and exogenous substrates, including steroids, bile acids, bilirubin, and drugs. This enzyme is involved in phase II drug metabolism and steroid hormone clearance. The gene is located on chromosome 4q13.3 within a cluster of UGT2B genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | Altered glucuronidation of androgens may affect hormone levels and cancer risk. | PMID: 20628086; GWAS catalog |
| Breast Cancer | Polymorphisms in UGT2B28 may influence estrogen metabolism and breast cancer susceptibility. | PMID: 21573179 |
| Hyperbilirubinemia | Deficient glucuronidation of bilirubin can lead to unconjugated hyperbilirubinemia. | ClinVar; PMID: 12442288 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small Intestine | 6.1 | Low |
| Colon | 4.7 | Low |
| Prostate | 3.2 | Low |
| Breast | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| Caco-2 | 7.8 | Colorectal adenocarcinoma cell line |
| MCF7 | 3.4 | Breast cancer cell line |
| LNCaP | 2.9 | Prostate cancer 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.1075G>A (p.Gly359Ser) | missense | 0.01% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
c.1A>G (p.Met1?) and c.454C>T (p.Arg152Trp) are associated with reduced or absent glucuronidation activity.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • glucuronosyltransferase activity (GO:0015020) | • metabolic process (GO:0008152) |
| • endoplasmic reticulum (GO:0005783) | • cellular glucuronidation (GO:0052695) |
| • steroid metabolic process (GO:0008202) |
Pathways
• Phase II - Glucuronidation (Reactome: R-HSA-156588)
• Biological oxidations (Reactome: R-HSA-211859)
• Metabolism of steroids (Reactome: R-HSA-8957322)
Protein Summary
UGT2B28 is a 529-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the glucuronidation of endogenous compounds such as androgens, estrogens, and bile acids, as well as xenobiotics including drugs and environmental chemicals. The enzyme is expressed primarily in liver, kidney, and intestine, with lower levels in steroid-responsive tissues like prostate and breast. Genetic variants in UGT2B28 can alter enzyme activity and have been implicated in cancer susceptibility and drug metabolism phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGT2B28 Knockout HEK293 Cell Line | EDJ-KQ11437 | Human | 54490 | Details Get a Quote |
| UGT2B28 Knockout HeLa Cell Line | EDJ-KQ56423 | Human | 54490 | Details Get a Quote |
| UGT2B28 Knockout A-549 Cell Line | EDJ-KQ64918 | Human | 54490 | Details Get a Quote |
| UGT2B28 Knockout HCT 116 Cell Line | EDJ-KQ73360 | Human | 54490 | Details Get a Quote |
