UGT2B17
UDP Glucuronosyltransferase Family 2 Member B17
Gene Information Card
| Symbol | UGT2B17 |
|---|---|
| Full Name | UDP Glucuronosyltransferase Family 2 Member B17 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.2 |
| NCBI Gene ID | 7367 ncbi.nlm.nih.gov/gene/7367 |
| Ensembl ID | ENSG00000197888 |
| UniProt ID | O75795 |
| OMIM ID | 601903 |
| HGNC ID | 12552 |
| Aliases | UGT2B17, UDPGT 2B17, UGT2B17I |
Description
UGT2B17 encodes a member of the UDP-glucuronosyltransferase (UGT) family, which catalyzes the glucuronidation of endogenous and exogenous compounds, including steroid hormones (e.g., testosterone, dihydrotestosterone) and xenobiotics. This enzyme is highly expressed in the liver, prostate, and skin, and plays a key role in androgen metabolism. A common copy number variation (deletion) of UGT2B17 is associated with altered steroid hormone levels and drug metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | UGT2B17 glucuronidates androgens; reduced activity may increase androgen bioavailability, promoting tumor growth | PMID: 18381431, COSMIC |
| Osteoporosis | UGT2B17 deletion associated with altered androgen levels affecting bone mineral density | PMID: 19293266 |
| Drug Metabolism (e.g., NSAIDs) | UGT2B17 catalyzes glucuronidation of drugs; gene deletion reduces clearance | PMID: 19651872 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Prostate | 8.3 | Medium |
| Skin | 6.1 | Low |
| Adrenal Gland | 4.2 | Low |
| Small Intestine | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| LNCaP | 9.7 | Prostate cancer cell line |
| MCF7 | 2.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| UGT2B17*2 (deletion) | Copy number variation (deletion) | 30-50% in Asians, 10-20% in Europeans | Loss of enzyme activity; altered steroid and drug metabolism |
| rs7439366 (T>G) | SNP | 0.15 (global) | Missense; reduced catalytic activity |
Mutation functional classification
Loss of Function (LOF)
UGT2B17*2 deletion results in complete loss of enzyme activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • glucuronosyltransferase activity (GO:0015020) | • metabolic process (GO:0008152) |
| • endoplasmic reticulum (GO:0005783) | • steroid metabolic process (GO:0008202) |
| • cellular glucuronidation (GO:0052695) |
Pathways
• Androgen and estrogen metabolism (Reactome: R-HSA-196854)
• Glucuronidation (Reactome: R-HSA-156588)
Protein Summary
UGT2B17 is a 530-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the transfer of glucuronic acid from UDP-glucuronic acid to a variety of substrates, including androgens (testosterone, dihydrotestosterone), estrogens, and xenobiotics. The enzyme is critical for steroid hormone inactivation and elimination. A common whole-gene deletion polymorphism (UGT2B17*2) results in complete loss of function and is associated with altered steroid levels and drug metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGT2B17 Knockout HEK293 Cell Line | EDJ-KQ5997 | Human | 7367 | Details Get a Quote |
| UGT2B17 Knockout HeLa Cell Line | EDJ-KQ54727 | Human | 7367 | Details Get a Quote |
| UGT2B17 Knockout A-549 Cell Line | EDJ-KQ63218 | Human | 7367 | Details Get a Quote |
| UGT2B17 Knockout HCT 116 Cell Line | EDJ-KQ71684 | Human | 7367 | Details Get a Quote |
