UCK2: Uridine-Cytidine Kinase 2 – A Key Enzyme in Nucleotide Salvage and Cancer Metabolism
Comprehensive genomic and functional overview of UCK2, a potential biomarker and therapeutic target in oncology.
Gene Information Card
| Symbol | UCK2 |
|---|---|
| Full Name | Uridine-Cytidine Kinase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 7371 ncbi.nlm.nih.gov/gene/7371 |
| Ensembl ID | ENSG00000143179 |
| UniProt ID | Q9BZX2 |
| OMIM ID | 610913 |
| HGNC ID | 12566 |
| Aliases | UCK2, UK, UMPK, UMK, UCK2_HUMAN |
Description
UCK2 encodes uridine-cytidine kinase 2, a key enzyme in the pyrimidine salvage pathway that phosphorylates uridine and cytidine to their respective monophosphates. This enzyme is essential for nucleotide pool maintenance and is upregulated in various cancers, contributing to chemoresistance and tumor proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | UCK2 overexpression promotes pyrimidine salvage, supporting rapid DNA/RNA synthesis in proliferating tumor cells. | PMID: 25642770; COSMIC overexpression data |
| Colorectal cancer | High UCK2 expression correlates with poor prognosis and resistance to 5-fluorouracil therapy. | PMID: 30356127; ClinVar |
| Hepatocellular carcinoma | UCK2 upregulation enhances cell proliferation and migration via nucleotide pool expansion. | PMID: 31406129 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 6.7 | Low |
| Brain | 2.1 | Low |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HCT116 | 18.7 | Colorectal carcinoma cell line |
| MCF7 | 9.4 | Breast cancer cell line |
| A549 | 11.0 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.217G>A (p.Gly73Arg) | Missense | <0.1% | Reduced kinase activity in vitro (PMID: 25642770) |
| c.344C>T (p.Pro115Leu) | Missense | <0.1% | Unknown functional impact |
| c.482_483insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the protein, reducing or abolishing kinase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in literature or databases.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • uridine kinase activity (GO:0004849) | • ATP binding (GO:0005524) |
| • cytoplasm (GO:0005737) | • pyrimidine nucleotide salvage (GO:0006221) |
| • nucleoside diphosphate metabolic process (GO:0009132) |
Pathways
• Pyrimidine salvage pathway (Reactome: R-HSA-73621)
• Pyrimidine metabolism (KEGG: hsa00240)
Protein Summary
UCK2 is a 277-amino acid cytoplasmic enzyme that catalyzes the ATP-dependent phosphorylation of uridine and cytidine to UMP and CMP, respectively. It is a homodimer with a Rossmann-fold nucleotide-binding domain. UCK2 is highly expressed in proliferating tissues and cancers, where it supports nucleotide salvage and is implicated in resistance to nucleoside analog drugs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UCK2 Knockout HEK293 Cell Line | EDJ-KQ5267 | Human | 7371 | Details Get a Quote |
| UCK2 Knockout A-549 Cell Line | EDJ-KQ29590 | Human | 7371 | Details Get a Quote |
| UCK2 Knockout HCT 116 Cell Line | EDJ-KQ29592 | Human | 7371 | Details Get a Quote |
| UCK2 Knockout HeLa Cell Line | EDJ-KQ29593 | Human | 7371 | Details Get a Quote |
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