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    CTPS2 CTP synthase 2 [ Homo sapiens (human) ]

    Gene ID: 56474, updated on 5-Mar-2024

    Summary

    Official Symbol
    CTPS2provided by HGNC
    Official Full Name
    CTP synthase 2provided by HGNC
    Primary source
    HGNC:HGNC:2520
    See related
    Ensembl:ENSG00000047230 MIM:300380; AllianceGenome:HGNC:2520
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GATD5B
    Summary
    The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in ovary (RPKM 4.6), duodenum (RPKM 4.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    Xp22.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (16587999..16712910, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (16170460..16295388, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (16606122..16731033, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene heat shock protein 90 alpha family class B member 1 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 658, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:16593879-16594382 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:16595896-16596399 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:16596400-16596904 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:16596905-16597407 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:16597568-16598414 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:16598415-16599261 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:16604766-16605549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:16625033-16625533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:16647850-16648497 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:16648498-16649144 Neighboring gene microRNA 548am Neighboring gene S100 calcium binding protein G Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29454 Neighboring gene Sharpr-MPRA regulatory region 4999 Neighboring gene synapse associated protein 1 Neighboring gene RNA, U7 small nuclear 56 pseudogene

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ43358, MGC32997, DKFZp686C17207

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables CTP synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables identical protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in 'de novo' CTP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in CTP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glutamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pyrimidine nucleobase biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in pyrimidine nucleotide metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoophidium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    CTP synthase 2
    Names
    CTP synthase II
    CTP synthetase type 2
    UTP-ammonia ligase 2
    cytidine 5'-triphosphate synthetase 2
    NP_001137474.1
    NP_062831.3
    NP_787055.1
    XP_006724566.1
    XP_011543847.1
    XP_024308176.1
    XP_047298215.1
    XP_047298216.1
    XP_047298217.1
    XP_047298218.1
    XP_054183387.1
    XP_054183388.1
    XP_054183389.1
    XP_054183390.1
    XP_054183391.1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_013229.2 RefSeqGene

      Range
      5241..129911
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001144002.2NP_001137474.1  CTP synthase 2

      See identical proteins and their annotated locations for NP_001137474.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC073909, AL445467
      Consensus CDS
      CCDS14175.1
      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8
      Related
      ENSP00000401264.1, ENST00000443824.5
      Conserved Domains (1) summary
      PLN02327
      Location:1557
      PLN02327; CTP synthase
    2. NM_019857.5NP_062831.3  CTP synthase 2

      See identical proteins and their annotated locations for NP_062831.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC073909, AL445467
      Consensus CDS
      CCDS14175.1
      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8
      Related
      ENSP00000369590.3, ENST00000380241.7
      Conserved Domains (1) summary
      PLN02327
      Location:1557
      PLN02327; CTP synthase
    3. NM_175859.3NP_787055.1  CTP synthase 2

      See identical proteins and their annotated locations for NP_787055.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC073909, AL445467
      Consensus CDS
      CCDS14175.1
      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8
      Related
      ENSP00000352222.4, ENST00000359276.9
      Conserved Domains (1) summary
      PLN02327
      Location:1557
      PLN02327; CTP synthase

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      16587999..16712910 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724503.4XP_006724566.1  CTP synthase 2 isoform X2

      See identical proteins and their annotated locations for XP_006724566.1

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8
      Conserved Domains (1) summary
      PLN02327
      Location:1557
      PLN02327; CTP synthase
    2. XM_047442260.1XP_047298216.1  CTP synthase 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8
    3. XM_047442261.1XP_047298217.1  CTP synthase 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8
    4. XM_024452408.2XP_024308176.1  CTP synthase 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8
      Conserved Domains (1) summary
      PLN02327
      Location:1557
      PLN02327; CTP synthase
    5. XM_011545545.3XP_011543847.1  CTP synthase 2 isoform X1

      Conserved Domains (3) summary
      cd01746
      Location:341586
      GATase1_CTP_Synthase; Type 1 glutamine amidotransferase (GATase1) domain found in Cytidine Triphosphate Synthetase
      PLN02327
      Location:43599
      PLN02327; CTP synthase
      pfam06418
      Location:44314
      CTP_synth_N; CTP synthase N-terminus
    6. XM_047442259.1XP_047298215.1  CTP synthase 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8
    7. XM_047442262.1XP_047298218.1  CTP synthase 2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      16170460..16295388 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327415.1XP_054183390.1  CTP synthase 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8
    2. XM_054327413.1XP_054183388.1  CTP synthase 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8
    3. XM_054327412.1XP_054183387.1  CTP synthase 2 isoform X1

    4. XM_054327414.1XP_054183389.1  CTP synthase 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8
    5. XM_054327416.1XP_054183391.1  CTP synthase 2 isoform X3