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

Gene ID: 129607, updated on 2-Oct-2018

Summary

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; Vega:OTTHUMG00000151629
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

Genomic context

See CMPK2 in Genome Data Viewer
Location:
2p25.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (6840417..6866635, complement)
105 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 long intergenic non-protein coding RNA 487 Neighboring gene uncharacterized LOC105373404 Neighboring gene negative regulator of interferon response Neighboring gene radical S-adenosyl methionine domain containing 2 Neighboring gene RNF144A antisense RNA 1 Neighboring gene ring finger protein 144A Neighboring gene Sharpr-MPRA regulatory region 7427/13434

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_001256477.1NP_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, OTTHUMP00000200305, ENST00000404168.1, OTTHUMT00000323345
    Conserved Domains (1) summary
    cl17190
    Location:255401
    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_001256478.1NP_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:248284
    Tmk; Thymidylate kinase [Nucleotide transport and metabolism]
  3. NM_207315.3NP_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, BC089425, DA501203
    Consensus CDS
    CCDS42648.1
    UniProtKB/Swiss-Prot
    Q5EBM0
    Related
    ENSP00000256722.5, OTTHUMP00000200304, ENST00000256722.9, OTTHUMT00000323339
    Conserved Domains (2) summary
    COG0125
    Location:248444
    Tmk; Thymidylate kinase [Nucleotide transport and metabolism]
    cl17190
    Location:255443
    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_046236.1 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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    6840417..6866635 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_922655.2 RNA Sequence

  2. XR_922656.2 RNA Sequence

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