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Aliases for CTPS2 Gene

Aliases for CTPS2 Gene

  • CTP Synthase 2 2 3 3 5
  • CTP Synthase II 2 3
  • Cytidine 5-Triphosphate Synthetase 2 3
  • CTP Synthetase Type 2 3
  • UTP--Ammonia Ligase 2 4
  • UTP-Ammonia Ligase 2 3
  • CTP Synthetase 2 4
  • EC 4

External Ids for CTPS2 Gene

Previous GeneCards Identifiers for CTPS2 Gene

  • GC0XM016336
  • GC0XM015431
  • GC0XM015808
  • GC0XM015967
  • GC0XM016365
  • GC0XM016516
  • GC0XM014360

Summaries for CTPS2 Gene

Entrez Gene Summary for CTPS2 Gene

  • 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]

GeneCards Summary for CTPS2 Gene

CTPS2 (CTP Synthase 2) is a Protein Coding gene. Diseases associated with CTPS2 include Gliosarcoma. Among its related pathways are Metabolism and superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis. Gene Ontology (GO) annotations related to this gene include hydrolase activity and CTP synthase activity. An important paralog of this gene is CTPS1.

UniProtKB/Swiss-Prot for CTPS2 Gene

  • Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides.

Gene Wiki entry for CTPS2 Gene

Additional gene information for CTPS2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTPS2 Gene

Genomics for CTPS2 Gene

GeneHancer (GH) Regulatory Elements for CTPS2 Gene

Promoters and enhancers for CTPS2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ016711 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 +0.8 774 2.4 PKNOX1 SMAD1 ARID4B SIN3A YY1 POLR2B GLIS2 GATA2 ZNF143 DEK CTPS2 S100G
GH0XJ016603 Enhancer 1.1 Ensembl ENCODE 24 +108.2 108224 2.6 ELF3 ZFP64 RFX5 TCF12 ZNF121 ZNF213 GATA2 ZNF138 RCOR1 ZNF202 TXLNG CTPS2 S100G GC0XP016584 MIR548AM
GH0XJ017412 Enhancer 1.1 Ensembl ENCODE 15.8 -701.5 -701503 4.5 FEZF1 ATF7 FOS KLF13 ZNF662 TSHZ1 ZNF518A MYNN AEBP2 STAT3 RAI2 NHS CTPS2 TXLNG SCML1 RBBP7 MIR4768
GH0XJ016770 Enhancer 1.2 Ensembl ENCODE 11.1 -58.9 -58908 2.3 HNRNPUL1 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B ZNF143 RBBP7 NHS CTPS2 TXLNG GC0XP016767
GH0XJ016824 Enhancer 1.1 Ensembl ENCODE 11.4 -114.0 -114010 4.8 FOXA2 ZNF133 ARID4B BRCA1 YY1 RXRA REST MAFF GLIS1 STAT3 RBBP7 TXLNG ENSG00000201467 CTPS2 GC0XP016842 RPL12P49
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTPS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CTPS2 gene promoter:
  • E2F
  • E2F-2
  • E2F-1
  • FOXO4

Genomic Locations for CTPS2 Gene

Genomic Locations for CTPS2 Gene
124,981 bases
Minus strand
124,938 bases
Minus strand

Genomic View for CTPS2 Gene

Genes around CTPS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTPS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTPS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTPS2 Gene

Proteins for CTPS2 Gene

  • Protein details for CTPS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    CTP synthase 2
    Protein Accession:
    Secondary Accessions:
    • B3KWM2
    • Q9BRI0
    • Q9H809
    • Q9H8K9

    Protein attributes for CTPS2 Gene

    586 amino acids
    Molecular mass:
    65678 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CTPS2 Gene

neXtProt entry for CTPS2 Gene

Post-translational modifications for CTPS2 Gene

  • Ubiquitination at posLast=264264
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CTPS2 Gene

Domains & Families for CTPS2 Gene

Gene Families for CTPS2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CTPS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CTP synthase family.
  • Belongs to the CTP synthase family.
genes like me logo Genes that share domains with CTPS2: view

Function for CTPS2 Gene

Molecular function for CTPS2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + UTP + L-glutamine = ADP + phosphate + CTP + L-glutamate.

Enzyme Numbers (IUBMB) for CTPS2 Gene

Gene Ontology (GO) - Molecular Function for CTPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003883 CTP synthase activity TAS,EXP 10899599
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with CTPS2: view
genes like me logo Genes that share phenotypes with CTPS2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CTPS2

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CTPS2 Gene

Localization for CTPS2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTPS2 gene
Compartment Confidence
cytosol 5
mitochondrion 3
peroxisome 2
nucleus 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CTPS2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CTPS2 Gene

Pathways & Interactions for CTPS2 Gene

genes like me logo Genes that share pathways with CTPS2: view

UniProtKB/Swiss-Prot Q9NRF8-PYRG2_HUMAN

  • Pathway: Pyrimidine metabolism; CTP biosynthesis via de novo pathway; CTP from UDP: step 2/2.

SIGNOR curated interactions for CTPS2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CTPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006220 pyrimidine nucleotide metabolic process TAS 10899599
GO:0006221 pyrimidine nucleotide biosynthetic process IEA --
GO:0006241 CTP biosynthetic process IEA --
GO:0006541 glutamine metabolic process IEA --
GO:0015949 nucleobase-containing small molecule interconversion TAS --
genes like me logo Genes that share ontologies with CTPS2: view

Drugs & Compounds for CTPS2 Gene

(9) Drugs for CTPS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 64
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Glutamic Acid Approved Nutra Full agonist, Agonist 251

(2) Additional Compounds for CTPS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
genes like me logo Genes that share compounds with CTPS2: view

Transcripts for CTPS2 Gene

Unigene Clusters for CTPS2 Gene

CTP synthase 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTPS2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a ·
SP1: - - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: -
SP5: - -
SP7: - -

ExUns: 23b · 23c ^ 24a · 24b

Relevant External Links for CTPS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CTPS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTPS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CTPS2 Gene

This gene is overexpressed in Fetal gut (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTPS2 Gene

Protein tissue co-expression partners for CTPS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CTPS2 Gene:


SOURCE GeneReport for Unigene cluster for CTPS2 Gene:


Evidence on tissue expression from TISSUES for CTPS2 Gene

  • Liver(4.2)
  • Lung(4.1)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with CTPS2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTPS2 Gene

Orthologs for CTPS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTPS2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CTPS2 34 33
  • 99.32 (n)
(Bos Taurus)
Mammalia CTPS2 34 33
  • 92.61 (n)
(Canis familiaris)
Mammalia CTPS2 34 33
  • 91.75 (n)
(Ornithorhynchus anatinus)
Mammalia CTPS2 34
  • 88 (a)
(Mus musculus)
Mammalia Ctps2 16 34 33
  • 87.6 (n)
(Rattus norvegicus)
Mammalia Ctps2 33
  • 87.6 (n)
(Monodelphis domestica)
Mammalia CTPS2 34
  • 86 (a)
(Gallus gallus)
Aves CTPS2 34 33
  • 77.42 (n)
(Anolis carolinensis)
Reptilia CTPS2 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ctps2 33
  • 73.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta CTPsyn 34
  • 60 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05545g 33
  • 58.24 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL320C 33
  • 57.56 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA7 34 33
  • 57.26 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G30820 33
  • 58.72 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3483 34
  • 61 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cts1 33
  • 57.59 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00261 33
  • 54.36 (n)
Species where no ortholog for CTPS2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CTPS2 Gene

Gene Tree for CTPS2 (if available)
Gene Tree for CTPS2 (if available)
Evolutionary constrained regions (ECRs) for CTPS2: view image

Paralogs for CTPS2 Gene

Paralogs for CTPS2 Gene

(1) SIMAP similar genes for CTPS2 Gene using alignment to 2 proteins:

  • H0Y5S6_HUMAN
genes like me logo Genes that share paralogs with CTPS2: view

Variants for CTPS2 Gene

Sequence variations from dbSNP and Humsavar for CTPS2 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000013693 -- 16,667,988(-) C/T intron_variant
rs1000067418 -- 16,668,572(-) G/A intron_variant
rs1000083859 -- 16,636,941(-) AAAA/AAA intron_variant
rs1000132252 -- 16,625,673(-) A/C intron_variant
rs1000172125 -- 16,637,882(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CTPS2 Gene

Variant ID Type Subtype PubMed ID
esv33194 CNV loss 17666407
esv33814 CNV gain 17666407
esv3573611 CNV loss 25503493
nsv438125 CNV loss 16468122
nsv6814 CNV deletion 18451855
nsv6815 CNV insertion 18451855
nsv6816 CNV insertion 18451855

Variation tolerance for CTPS2 Gene

Residual Variation Intolerance Score: 31.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTPS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTPS2 Gene

Disorders for CTPS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CTPS2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
  • glioblastoma with sarcomatous component
- elite association - COSMIC cancer census association via MalaCards
Search CTPS2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CTPS2

genes like me logo Genes that share disorders with CTPS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CTPS2 Gene

Publications for CTPS2 Gene

  1. Expression of Human CTP synthetase in Saccharomyces cerevisiae reveals phosphorylation by protein kinase A. (PMID: 16179339) Han GS … Carman GM (The Journal of biological chemistry 2005) 3 4 22 58
  2. Identification of a cDNA encoding an isoform of human CTP synthetase. (PMID: 10899599) van Kuilenburg AB … van Gennip AH (Biochimica et biophysica acta 2000) 2 3 4 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for CTPS2 Gene

Sources for CTPS2 Gene

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