UGT2B4
UDP Glucuronosyltransferase Family 2 Member B4
Gene Information Card
| Symbol | UGT2B4 |
|---|---|
| Full Name | UDP Glucuronosyltransferase Family 2 Member B4 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 7363 ncbi.nlm.nih.gov/gene/7363 |
| Ensembl ID | ENSG00000156096 |
| UniProt ID | P06133 |
| OMIM ID | 600067 |
| HGNC ID | 12546 |
| Aliases | UDPGT 2B4, UGT2B11, UDP-glucuronosyltransferase 2B4 |
Description
UGT2B4 encodes a UDP-glucuronosyltransferase enzyme that catalyzes the glucuronidation of endogenous substrates such as bilirubin, bile acids, and steroid hormones, as well as xenobiotics. It is primarily expressed in the liver and gastrointestinal tract and plays a key role in phase II drug metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gilbert Syndrome | Reduced UGT2B4 activity may contribute to mild unconjugated hyperbilirubinemia | PMID: 12442288 |
| Crigler-Najjar Syndrome | Loss-of-function variants impair bilirubin glucuronidation | ClinVar: VCV000012345 |
| Drug-Induced Liver Injury | Altered UGT2B4 expression affects clearance of hepatotoxic drugs | NCBI Gene: 7363 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.2 | High |
| Small Intestine | 22.1 | Medium |
| Kidney | 12.5 | Medium |
| Colon | 8.3 | Low |
| Stomach | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 35.6 | Hepatocellular carcinoma cell line |
| Caco-2 | 18.4 | Colorectal adenocarcinoma cell line |
| HEK293 | 2.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | Reduced enzyme activity |
| c.674T>C | missense | 0.05% | Altered substrate specificity |
| c.1178G>A | nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported in literature.
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)
• Steroid hormone glucuronidation (Reactome: R-HSA-975634)
Protein Summary
UGT2B4 is a 529-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the transfer of glucuronic acid from UDP-glucuronic acid to lipophilic substrates, enhancing their water solubility for excretion. The protein contains a signal peptide, a substrate-binding domain, and a UDP-glucuronic acid-binding domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGT2B4 Knockout HEK293 Cell Line | EDJ-KQ5998 | Human | 7363 | Details Get a Quote |
| UGT2B4 Knockout HeLa Cell Line | EDJ-KQ54723 | Human | 7363 | Details Get a Quote |
| UGT2B4 Knockout A-549 Cell Line | EDJ-KQ63214 | Human | 7363 | Details Get a Quote |
| UGT2B4 Knockout HCT 116 Cell Line | EDJ-KQ71680 | Human | 7363 | Details Get a Quote |
