CMPK2

Chr 2p25.2

cytidine/uridine monophosphate kinase 2

Aliases:: TYKi, UMP-CMPK2, NDK
MANE:: ENST00000256722.10

OMIM: 611787 ↗NCBI: 129607 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CMPK2 · Q5EBM0

v62025-08-01

Predicted Aligned Error matrix for CMPK2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.6/ 100

Confident

449 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)25%
Low(50–70)3%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

basal ganglia calcification, idiopathic, 10, autosomal recessive
0.64
bilateral striopallidodentate calcinosis
0.37
Global developmental delay
0.37
Failure to thrive
0.37
androgenetic alopecia
0.19
placental retention
0.19
alcohol drinking
0.18
digestive system disorder
0.16
cervical carcinoma
0.15
Alzheimer disease
0.14

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

UMP-CMP kinase 2, mitochondrial

Mitochondrial nucleotide monophosphate kinase needed for salvage dNTP synthesis that mediates immunomodulatory and antiviral activities through IFN-dependent and IFN-independent pathways (PubMed:17999954, PubMed:30083606, PubMed:36930652, PubMed:37075076). Restricts the replication of multiple viruses including flaviviruses or coronaviruses (PubMed:30083606, PubMed:36930652, PubMed:37075076). Together with viperin/RSAD2 and ddhCTP, suppresses the replication of several coronaviruses through inhibition of the viral RNA-dependent RNA polymerase activities (PubMed:36930652). Concerning flaviviruses, restricts RNA translation when localized to the mitochondria independently of its kinase activity (PubMed:37075076). Is able to phosphorylate dUMP, dCMP, CMP, UMP and monophosphates of the pyrimidine nucleoside analogs ddC, dFdC, araC, BVDU and FdUrd with ATP as phosphate donor. Efficacy is highest for dUMP followed by dCMP while CMP and UMP are poor substrates. Controls therefore mitochondrial DNA synthesis by supplying required deoxyribonucleotides (By similarity). CMPK2-dependent mitochondrial DNA synthesis is necessary for the production of oxidized mitochondrial DNA fragments after exposure to NLRP3 activators (By similarity). In turn, cytosolic oxidized mtDNA associates with the NLRP3 inflammasome complex and is required for its activation (By similarity)