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    CMPK2 cytidine/uridine monophosphate kinase 2 [ Homo sapiens (human) ]

    Gene ID: 129607, updated on 2-May-2024

    Summary

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    Official Symbol
    CMPK2provided by HGNC
    Official Full Name
    cytidine/uridine monophosphate kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:27015
    See related
    Ensembl:ENSG00000134326 MIM:611787; AllianceGenome:HGNC:27015
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NDK; TYKi; TMPK2; UMP-CMPK2
    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 RefSeq, Feb 2012]
    Expression
    Ubiquitous expression in bone marrow (RPKM 6.8), spleen (RPKM 4.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p25.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (6840553..6866635, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (6862071..6888137, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (6980684..7006766, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:6913298-6914497 Neighboring gene uncharacterized LOC105373404 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:6946605-6947167 Neighboring gene Sharpr-MPRA regulatory region 11536 Neighboring gene negative regulator of interferon response Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11121 Neighboring gene radical S-adenosyl methionine domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11122 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:7064883-7065296 Neighboring gene glycosaminoglycan regulatory associated long non-coding RNA Neighboring gene ring finger protein 144A Neighboring gene Sharpr-MPRA regulatory region 7309 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:7113462-7114661 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:7157299-7157798 Neighboring gene Sharpr-MPRA regulatory region 7427/13434 Neighboring gene Sharpr-MPRA regulatory region 3683 Neighboring gene uncharacterized LOC101929452

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CMPK2 restricts Zika virus replication by inhibiting viral translation. Pawlak JB, et al. PLoS Pathog, 2023 Apr. PMID 37075076, Free PMC Article
    2. The mitochondrial gene-CMPK2 functions as a rheostat for macrophage homeostasis. Arumugam P, et al. Front Immunol, 2022. PMID 36451821, Free PMC Article
    3. Mitochondrial protein CMPK2 regulates IFN alpha-enhanced foam cell formation, potentially contributing to premature atherosclerosis in SLE. Lai JH, et al. Arthritis Res Ther, 2021 Apr 19. PMID 33874983, Free PMC Article
    4. Identification of a putative human mitochondrial thymidine monophosphate kinase associated with monocytic/macrophage terminal differentiation. Chen YL, et al. Genes Cells, 2008 Jul. PMID 18498354
    5. Human UMP-CMP kinase 2, a novel nucleoside monophosphate kinase localized in mitochondria. Xu Y, et al. J Biol Chem, 2008 Jan 18. PMID 17999954

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CMPK2 restricts Zika virus replication by inhibiting viral translation.
      Title: CMPK2 restricts Zika virus replication by inhibiting viral translation.
    2. The mitochondrial gene-CMPK2 functions as a rheostat for macrophage homeostasis.
      Title: The mitochondrial gene-CMPK2 functions as a rheostat for macrophage homeostasis.
    3. Mitochondrial protein CMPK2 regulates IFN alpha-enhanced foam cell formation, potentially contributing to premature atherosclerosis in SLE.
      Title: Mitochondrial protein CMPK2 regulates IFN alpha-enhanced foam cell formation, potentially contributing to premature atherosclerosis in SLE.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Upregulated in monocyte/macrophage differentiating cells, suggesting coordinated regulation with the terminal differentiation program.
      Title: Identification of a putative human mitochondrial thymidine monophosphate kinase associated with monocytic/macrophage terminal differentiation.
    6. a human mitochondrial UMP-CMP kinase (UMP-CMPK, cytidylate kinase; EC 2.7.4.14), designated as UMP-CMP kinase 2 (UMP-CMPK2), is identified.
      Title: Human UMP-CMP kinase 2, a novel nucleoside monophosphate kinase localized in mitochondria.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables CMP kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UMP kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cytidylate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cytidylate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables dCMP kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleoside diphosphate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleoside diphosphate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables thymidylate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dTDP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dTTP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dUDP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleoside monophosphate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    UMP-CMP kinase 2, mitochondrial
    Names
    UMP/CMP kinase
    cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial
    cytidylate kinase 2
    mitochondrial UMP-CMP kinase
    nucleoside-diphosphate kinase
    thymidine monophosphate kinase 2
    thymidylate kinase family LPS-inducible member
    NP_001243406.1
    NP_001243407.1
    NP_997198.2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001256477.1 → NP_001243406.1  UMP-CMP kinase 2, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001243406.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting protein (isoform 2) has a shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AC017076, BC141802
      Consensus CDS
      CCDS58696.1
      UniProtKB/Swiss-Prot
      Q5EBM0
      Related
      ENSP00000384915.1, ENST00000404168.1
      Conserved Domains (1) summary
      cl17190
      Location:255 → 401
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    2. NM_001256478.1 → NP_001243407.1  UMP-CMP kinase 2, mitochondrial isoform 3 precursor

      See identical proteins and their annotated locations for NP_001243407.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two exons in the 3' coding region, and differs in the 3' UTR and coding region compared to variant 1. The resulting protein (isoform 3) has a shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AC017076, BC132821
      Consensus CDS
      CCDS58695.1
      UniProtKB/Swiss-Prot
      Q5EBM0
      Related
      ENSP00000396385.1, ENST00000458098.5
      Conserved Domains (1) summary
      COG0125
      Location:248 → 284
      Tmk; Thymidylate kinase [Nucleotide transport and metabolism]

    3. NM_207315.4 → NP_997198.2  UMP-CMP kinase 2, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_997198.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AC017076
      Consensus CDS
      CCDS42648.1
      UniProtKB/Swiss-Prot
      A2RUB0, A5D8T2, B7ZM18, Q5EBM0, Q6ZRU2, Q96AL8
      Related
      ENSP00000256722.5, ENST00000256722.10
      Conserved Domains (2) summary
      COG0125
      Location:248 → 444
      Tmk; Thymidylate kinase [Nucleotide transport and metabolism]
      cl17190
      Location:255 → 443
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    RNA

    1. NR_046236.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' exon compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC017076, BX463706
      Related
      ENST00000478738.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      6840553..6866635 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      6862071..6888137 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5EBM0.3 GenPept UniProtKB/Swiss-Prot:Q5EBM0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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