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    CTPS2 CTP synthase 2 [ Homo sapiens (human) ]

    Gene ID: 56474, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See CTPS2 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (16587999..16712910, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (16170460..16295388, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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. Identification of a cDNA encoding an isoform of human CTP synthetase. van Kuilenburg AB, et al. Biochim Biophys Acta, 2000 Jul 24. PMID 10899599
    2. Comprehensive evaluation of the contribution of X chromosome genes to platinum sensitivity. Gamazon ER, et al. Mol Cancer Ther, 2011 Mar. PMID 21252287, Free PMC Article
    3. Coupled structural transitions enable highly cooperative regulation of human CTPS2 filaments. Lynch EM, et al. Nat Struct Mol Biol, 2020 Jan. PMID 31873303, Free PMC Article
    4. Regulation of human cytidine triphosphate synthetase 2 by phosphorylation. Kassel KM, et al. J Biol Chem, 2010 Oct 29. PMID 20739275, Free PMC Article
    5. Expression of Human CTP synthetase in Saccharomyces cerevisiae reveals phosphorylation by protein kinase A. Han GS, et al. J Biol Chem, 2005 Nov 18. PMID 16179339, Free PMC Article

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cryo-EM structures reveal that CTPS2 filaments dynamically switch between active and inactive forms in response to changes in substrate and product levels.
      Title: Coupled structural transitions enable highly cooperative regulation of human CTPS2 filaments.
    2. CTPS2 was identified by genome-wide gene expression analyses as correlated with cellular sensitivity to cisplatin and carboplatin.
      Title: Comprehensive evaluation of the contribution of X chromosome genes to platinum sensitivity.
    3. Low CTPS2 expression may be a rationally-based determinant of 5FU resistance.
      Title: Low cytosine triphosphate synthase 2 expression renders resistance to 5-fluorouracil in colorectal cancer.
    4. analysis of the kinetic properties of hCTPS1 and hCTPS2, and determination that Ser(68) is a major site of CTPS2 regulation by phosphorylation
      Title: Regulation of human cytidine triphosphate synthetase 2 by phosphorylation.
    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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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    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)

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    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_001144002.2 → NP_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:1 → 557
      PLN02327; CTP synthase

    2. NM_019857.5 → NP_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:1 → 557
      PLN02327; CTP synthase

    3. NM_175859.3 → NP_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:1 → 557
      PLN02327; CTP synthase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_006724503.4 → XP_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:1 → 557
      PLN02327; CTP synthase

    2. XM_047442260.1 → XP_047298216.1  CTP synthase 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8

    3. XM_047442261.1 → XP_047298217.1  CTP synthase 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8

    4. XM_024452408.2 → XP_024308176.1  CTP synthase 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8
      Conserved Domains (1) summary
      PLN02327
      Location:1 → 557
      PLN02327; CTP synthase

    5. XM_011545545.3 → XP_011543847.1  CTP synthase 2 isoform X1

      Conserved Domains (3) summary
      cd01746
      Location:341 → 586
      GATase1_CTP_Synthase; Type 1 glutamine amidotransferase (GATase1) domain found in Cytidine Triphosphate Synthetase
      PLN02327
      Location:43 → 599
      PLN02327; CTP synthase
      pfam06418
      Location:44 → 314
      CTP_synth_N; CTP synthase N-terminus

    6. XM_047442259.1 → XP_047298215.1  CTP synthase 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8

    7. XM_047442262.1 → XP_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_054327415.1 → XP_054183390.1  CTP synthase 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8

    2. XM_054327413.1 → XP_054183388.1  CTP synthase 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8

    3. XM_054327412.1 → XP_054183387.1  CTP synthase 2 isoform X1

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

      UniProtKB/Swiss-Prot
      B3KWM2, Q9BRI0, Q9H809, Q9H8K9, Q9NRF8

    5. XM_054327416.1 → XP_054183391.1  CTP synthase 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRF8.1 GenPept UniProtKB/Swiss-Prot:Q9NRF8

    Gene LinkOut

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

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