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CTPS2 CTP synthase 2 [ Homo sapiens (human) ]

Gene ID: 56474, updated on 5-Mar-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
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Genomic context

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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

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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. 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
  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. Identification of a cDNA encoding an isoform of human CTP synthetase. van Kuilenburg AB, et al. Biochim Biophys Acta, 2000 Jul 24. PMID 10899599
  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. Low cytosine triphosphate synthase 2 expression renders resistance to 5-fluorouracil in colorectal cancer. Tan WL, et al. Cancer Biol Ther, 2011 Mar 15. PMID 21378502

See all (46) 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
  

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_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_006724503.4 → 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

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