Gene Gene information from NCBI Gene database.
Entrez ID 129607
Gene name Cytidine/uridine monophosphate kinase 2
Gene symbol CMPK2
Synonyms (NCBI Gene)
IBGC10NDKTMPK2TYKiUMP-CMPK2
Chromosome 2
Chromosome location 2p25.2
Summary This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefS
miRNA miRNA information provided by mirtarbase database.
196
miRTarBase ID miRNA Experiments Reference
MIRT026932 hsa-miR-192-5p Microarray 19074876
MIRT898816 hsa-miR-1248 CLIP-seq
MIRT898817 hsa-miR-224 CLIP-seq
MIRT898818 hsa-miR-3176 CLIP-seq
MIRT898819 hsa-miR-3647-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004550 Function Nucleoside diphosphate kinase activity IBA
GO:0004550 Function Nucleoside diphosphate kinase activity IDA 23416111
GO:0004550 Function Nucleoside diphosphate kinase activity IEA
GO:0004798 Function DTMP kinase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611787 27015 ENSG00000134326
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5EBM0
Protein name UMP-CMP kinase 2, mitochondrial (EC 2.7.4.14) (Nucleoside-diphosphate kinase) (EC 2.7.4.6)
Protein function 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02223 Thymidylate_kin 257 438 Thymidylate kinase Domain
Tissue specificity TISSUE SPECIFICITY: High levels are observed in myeloid, lymphoid and mesenchymal tissues. {ECO:0000269|PubMed:34142025}.
Sequence
MAFARRLLRGPLSGPLLGRRGVCAGAMAPPRRFVLELPDCTLAHFALGADAPGDADAPDP
RLAALLGPPERSYSLCVPVTPDAGCGARVRAARLHQRLLHQLRRGPFQRCQLLRLLCYCP
GGQAGGAQQGFLLRDPLDDPDTRQALLELLGACQEAPRPHLGEFEADPRGQLWQRLWEVQ
DGRRLQVGCAQVVPVPEPPLHPVVPDLPSSVVFPDREAARAVLEECTSFIPEARAVLDLV
DQCPKQIQKGKFQVVAIEGLDATGKTTVTQSVADSLKAVLLKSPPSCIGQWRKIFDDEPT
IIRRAFYSLGNYIVASEIAKESAKSPVIVDRYWHSTATYAIATEVSGGLQHLPPAHHPVY
QWPEDLLKPDLILLLTVSPEERLQRLQGRGMEKTREEAELEANSVFRQKVEMSYQRMENP
GCHVVDASPSREKVLQTV
LSLIQNSFSEP
Sequence length 449
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Pyrimidine metabolism
Metabolic pathways
Nucleotide metabolism
Biosynthesis of cofactors
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE ClinVar, GenCC, HPO
ClinVar, GenCC, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILATERAL STRIOPALLIDODENTATE CALCINOSIS Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CMPK2-related disorder Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC BASAL GANGLIA CALCIFICATION 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Atherosclerosis Associate 33874983
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 19544670, 8104920
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Associate 36862146
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Associate 17052347
★☆☆☆☆
Found in Text Mining only
COVID 19 Associate 35958619, 36072597
★☆☆☆☆
Found in Text Mining only
Fahr's disease Associate 36862146
★☆☆☆☆
Found in Text Mining only
Gastritis Associate 36143845
★☆☆☆☆
Found in Text Mining only
HIV Infections Associate 30083606
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 17999954
★☆☆☆☆
Found in Text Mining only
Leukemia Stimulate 17999954
★☆☆☆☆
Found in Text Mining only