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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CMPK2
cytidine/uridine monophosphate kinase 2
Chromosome 2 Β· 2p25.2
NCBI Gene: 129607Ensembl: ENSG00000134326.12HGNC: HGNC:27015UniProt: Q5EBM0
16PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoside diphosphate kinase activitymitochondrionUMP kinase activitycytoplasmbasal ganglia calcification, idiopathic, 10, autosomal recessivebilateral striopallidodentate calcinosisdevelopmental disabilityFailure to thrive
✦AI Summary

CMPK2 is a mitochondrial nucleotide monophosphate kinase that catalyzes phosphorylation of pyrimidine monophosphates (dUMP, dCMP, CMP, UMP) to support mitochondrial DNA synthesis 1. The enzyme shows highest catalytic efficiency for dUMP, followed by dCMP [UniProt]. CMPK2-dependent mtDNA synthesis generates oxidized mtDNA fragments upon cellular stress, which activate the NLRP3 inflammasome complex 12. This mechanism links mitochondrial metabolism to innate immunity and represents a critical node in multiple inflammatory pathologies. CMPK2 is upregulated in macrophages during inflammatory challenges and plays pathogenic roles in diverse conditions. In ischemic stroke, microglial CMPK2 promotes neuroinflammation and brain injury through NLRP3 activation, with CMPK2 inhibition (using nordihydroguaiaretic acid) reducing infarct volume 1. In metabolic dysfunction-associated steatohepatitis (MASH), hepatocyte CMPK2 upregulation drives disease progression via mtDNA-NLRP3 signaling; genetic deletion or pharmacological inhibition suppresses fibrosis and pyroptosis 3. CMPK2 similarly mediates inflammation in allergic rhinitis 4, atherosclerosis 5, and rheumatoid arthritis 6 through mtDNA-STING pathway activation. Mutations in CMPK2 cause autosomal recessive basal ganglia calcification (Fahr's disease) 7. Therapeutically, CMPK2 inhibition emerges as a promising strategy for inflammatory and metabolic diseases.

Sources cited
1
CMPK2 is a mitochondrial nucleotide monophosphate kinase that catalyzes phosphorylation of pyrimidine monophosphates (dUMP, dCMP, CMP, UMP) to support mitochondrial DNA synthesis .
PMID: 38701781
2
In metabolic dysfunction-associated steatohepatitis (MASH), hepatocyte CMPK2 upregulation drives disease progression via mtDNA-NLRP3 signaling; genetic deletion or pharmacological inhibition suppresses fibrosis and pyroptosis .
PMID: 39855350
3
CMPK2 similarly mediates inflammation in allergic rhinitis , atherosclerosis , and rheumatoid arthritis through mtDNA-STING pathway activation.
PMID: 39799434
4
CMPK2 similarly mediates inflammation in allergic rhinitis , atherosclerosis , and rheumatoid arthritis through mtDNA-STING pathway activation.
PMID: 39187565
5
CMPK2 similarly mediates inflammation in allergic rhinitis , atherosclerosis , and rheumatoid arthritis through mtDNA-STING pathway activation.
PMID: 38481810
6
Mutations in CMPK2 cause autosomal recessive basal ganglia calcification (Fahr's disease) .
PMID: 37446066
Disease Associationsβ“˜21
basal ganglia calcification, idiopathic, 10, autosomal recessiveOpen Targets
0.45Moderate
bilateral striopallidodentate calcinosisOpen Targets
0.37Weak
developmental disabilityOpen Targets
0.23Weak
Failure to thriveOpen Targets
0.23Weak
androgenetic alopeciaOpen Targets
0.18Weak
alcohol drinkingOpen Targets
0.17Weak
Respiratory insufficiencyOpen Targets
0.16Weak
placental retentionOpen Targets
0.15Weak
cervical carcinomaOpen Targets
0.15Weak
bronchial diseaseOpen Targets
0.15Weak
Alzheimer diseaseOpen Targets
0.14Weak
squamous cell carcinomaOpen Targets
0.13Weak
mouth diseaseOpen Targets
0.13Weak
systemic inflammatory response syndromeOpen Targets
0.13Weak
tooth diseaseOpen Targets
0.13Weak
bone fractureOpen Targets
0.12Weak
brain injuryOpen Targets
0.12Weak
alopeciaOpen Targets
0.12Weak
adolescent idiopathic scoliosisOpen Targets
0.12Weak
risk-taking behaviourOpen Targets
0.09Suggestive
Basal ganglia calcification, idiopathic, 10, autosomal recessiveUniProt
Pathogenic Variants3
NM_207315.4(CMPK2):c.2T>C (p.Met1Thr)Pathogenic
Basal ganglia calcification, idiopathic, 10, autosomal recessive
β˜†β˜†β˜†β˜†2024β†’ Residue 1
NM_207315.4(CMPK2):c.1A>C (p.Met1Leu)Pathogenic
Basal ganglia calcification, idiopathic, 10, autosomal recessive
β˜†β˜†β˜†β˜†2024β†’ Residue 1
NM_207315.4(CMPK2):c.1241A>G (p.Tyr414Cys)Pathogenic
Basal ganglia calcification, idiopathic, 10, autosomal recessive
β˜†β˜†β˜†β˜†2024β†’ Residue 414
View on ClinVar β†—
Related Genes
DGUOKProtein interaction98%CMPK1Protein interaction98%UPRTProtein interaction97%NME1-NME2Protein interaction96%AK9Protein interaction95%ENTPD1Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
14%
Brain
13%
Lung
11%
Liver
5%
Ovary
3%
Gene Interaction Network
Click a node to explore
CMPK2DGUOKCMPK1UPRTNME1-NME2AK9ENTPD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5EBM0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.71LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.27 [0.95–1.71]
RankingsWhere CMPK2 stands among ~20K protein-coding genes
  • #15,232of 20,598
    Most Researched16
  • #4,157of 5,498
    Most Pathogenic Variants3
  • #16,138of 17,882
    Most Constrained (LOEUF)1.71
Genes detectedCMPK2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Microglial CMPK2 promotes neuroinflammation and brain injury after ischemic stroke.
PMID: 38701781
Cell Rep Med Β· 2024
1.00
2
Comparative Proteomic Analysis of Polarized Human THP-1 and Mouse RAW264.7 Macrophages.
PMID: 34267761
Front Immunol Β· 2021
0.90
3
Hepatocellular CMPK2 promotes the development of metabolic dysfunction-associated steatohepatitis.
PMID: 39855350
J Hepatol Β· 2025
0.80
4
The Genetics of Primary Familial Brain Calcification: A Literature Review.
PMID: 37446066
Int J Mol Sci Β· 2023
0.70
5
Aberrant mitochondrial DNA synthesis in macrophages exacerbates inflammation and atherosclerosis.
PMID: 39187565
Nat Commun Β· 2024
0.60