UPP2
Uridine Phosphorylase 2
Gene Information Card
| Symbol | UPP2 |
|---|---|
| Full Name | Uridine phosphorylase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q24.3 |
| NCBI Gene ID | 151531 ncbi.nlm.nih.gov/gene/151531 |
| Ensembl ID | ENSG00000116044 |
| UniProt ID | Q9BZE1 |
| OMIM ID | 609218 |
| HGNC ID | 12528 |
| Aliases | UP2, UPP, UPase2 |
Description
UPP2 encodes uridine phosphorylase 2, an enzyme that catalyzes the reversible phosphorolysis of uridine to uracil and ribose-1-phosphate. This enzyme plays a key role in pyrimidine salvage and nucleotide metabolism. UPP2 is expressed in various tissues and is involved in the regulation of intracellular uridine levels.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered UPP2 expression may affect pyrimidine metabolism and response to fluoropyrimidine-based chemotherapy | PMID: 23455423 |
| Hepatocellular carcinoma | UPP2 upregulation associated with tumor progression and poor prognosis | PMID: 29170764 |
| Pancreatic cancer | UPP2 expression correlates with gemcitabine sensitivity | PMID: 25695682 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Colon | 5.4 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| Caco-2 | 7.8 | Colorectal adenocarcinoma cell line |
| A549 | 4.5 | Lung carcinoma cell line |
| MCF7 | 2.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.496G>A (p.Gly166Arg) | Missense | <0.01% | Reduced enzyme activity in vitro |
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
p.Gly166Arg shows reduced catalytic activity in heterologous expression systems.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • uridine phosphorylase activity (GO:0004850) | • uridine catabolic process (GO:0006213) |
| • pyrimidine nucleobase metabolic process (GO:0006206) | • cytoplasm (GO:0005737) |
Pathways
• Pyrimidine metabolism (Reactome: R-HSA-500753)
• Pyrimidine salvage (Reactome: R-HSA-73621)
Protein Summary
Uridine phosphorylase 2 is a 346-amino acid protein that functions as a homodimer. It catalyzes the reversible phosphorolysis of uridine to uracil and ribose-1-phosphate, a key step in pyrimidine salvage. The enzyme is inhibited by thymidine and is involved in the metabolism of fluoropyrimidine drugs such as 5-fluorouracil.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UPP2 Knockout HEK293 Cell Line | EDJ-KQ10663 | Human | 151531 | Details Get a Quote |
| UPP2 Knockout HeLa Cell Line | EDJ-KQ58690 | Human | 151531 | Details Get a Quote |
| UPP2 Knockout A-549 Cell Line | EDJ-KQ67173 | Human | 151531 | Details Get a Quote |
| UPP2 Knockout HCT 116 Cell Line | EDJ-KQ75575 | Human | 151531 | Details Get a Quote |
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