CMPK2
Cytidine/Uridine Monophosphate Kinase 2
Gene Information Card
| Symbol | CMPK2 |
|---|---|
| Full Name | Cytidine/Uridine Monophosphate Kinase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p25.2 |
| NCBI Gene ID | 12960 ncbi.nlm.nih.gov/gene/12960 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q5EBM0 |
| OMIM ID | 611554 |
| HGNC ID | 24470 |
| Aliases | TYKI, UMP-CMPK2, UMPK2 |
Description
CMPK2 (cytidine/uridine monophosphate kinase 2) encodes a mitochondrial enzyme that catalyzes the phosphorylation of (d)CMP, (d)UMP, and (d)AMP to their corresponding diphosphate forms, playing a key role in pyrimidine nucleotide salvage and mitochondrial DNA synthesis. The gene is located on chromosome 2p25.2 and is primarily expressed in tissues with high mitochondrial activity. CMPK2 is also known as TYKI or UMP-CMPK2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome | Impaired dNTP supply due to CMPK2 deficiency leads to mtDNA depletion | ClinVar; PMID: 30929736 |
| Systemic lupus erythematosus | CMPK2 upregulation in plasmacytoid dendritic cells promotes type I interferon production | NCBI Gene; PMID: 31570896 |
| Viral infection susceptibility | CMPK2 restricts HIV-1 and other retroviruses by depleting cellular dNTP pools | UniProt; PMID: 27022092 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.3 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.2 | Low |
| Heart | 4.1 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.5 | Moderate expression |
| K562 | 7.8 | Low expression |
| HepG2 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.442C>T (p.Arg148Trp) | Missense | <0.01% | Reduced kinase activity; associated with mtDNA depletion |
| c.748G>A (p.Gly250Ser) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Met1? and p.Arg148Trp reduce or abolish CMPK2 kinase activity, impairing mitochondrial dNTP synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported in CMPK2.
Dominant Negative (DN)
No dominant-negative mutations reported in CMPK2.
View complete mutation data：
Gene Ontology (GO)
| • cytidylate kinase activity (GO:0004127) | • ATP binding (GO:0005524) |
| • mitochondrion (GO:0005739) | • pyrimidine nucleotide biosynthetic process (GO:0006221) |
| • dTDP biosynthetic process (GO:0006233) | • dTTP biosynthetic process (GO:0006235) |
Pathways
• Pyrimidine metabolism (Reactome: R-HSA-500753)
• Mitochondrial dNTP synthesis (Reactome: R-HSA-500753)
Protein Summary
CMPK2 is a 454-amino acid mitochondrial protein that belongs to the thymidylate kinase family. It phosphorylates (d)CMP, (d)UMP, and (d)AMP using ATP as a phosphate donor, providing dNTPs for mitochondrial DNA replication. The enzyme is highly expressed in lymphoid tissues and is induced by interferon, linking it to antiviral innate immunity. CMPK2 deficiency leads to mitochondrial DNA depletion and has been associated with systemic lupus erythematosus and susceptibility to viral infections.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CMPK2 Knockout HEK293 Cell Line | EDJ-KQ9220 | Human | 129607 | Details Get a Quote |
| CMPK2 Knockout HCT 116 Cell Line | EDJ-KQ35792 | Human | 129607 | Details Get a Quote |
| CMPK2 Knockout HeLa Cell Line | EDJ-KQ58264 | Human | 129607 | Details Get a Quote |
| CMPK2 Knockout A-549 Cell Line | EDJ-KQ66751 | Human | 129607 | Details Get a Quote |
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