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 increas... See more...

Aliases for CTPS2 Gene

Aliases for CTPS2 Gene

  • CTP Synthase 2 2 3 4 5
  • CTP Synthase II 2 3
  • EC 6.3.4.2 4 51
  • 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
  • CTPS2 5

External Ids for CTPS2 Gene

Previous GeneCards Identifiers for CTPS2 Gene

  • GC0XM016336
  • GC0XM015431
  • GC0XM015808
  • GC0XM015967
  • GC0XM016365
  • GC0XM016516
  • GC0XM016606
  • 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 Nemaline Myopathy 7 and Adenoiditis. Among its related pathways are superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis and Metabolism. 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 Summary 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 , Rfam classification and piRNA Summary for CTPS2 Gene

Genomics for CTPS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTPS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 CraniofacialAtlas 600.7 +0.8 835 3 PRDM10 ZNF692 POLR2A LARP7 ZNF143 RBFOX2 PKNOX1 PATZ1 REST ZNF501 CTPS2 RF00017-8181 RF00017-8179 S100G
GH0XJ016603 Enhancer 1 Ensembl ENCODE 24 +108.2 108236 4.6 IKZF1 FOXA1 POLR2A DPF2 GABPA ZNF341 TCF12 SOX13 ZNF140 TCF7 TXLNG CTPS2 S100G piR-61580-659 MIR548AM MAGEB17
GH0XJ015883 Enhancer 1 Ensembl ENCODE 14.6 +829.9 829935 2 RFX1 DDX20 ZNF740 TRIM22 YY1 ZSCAN29 GTF2E2 ZNF766 DPF2 RUNX3 ZRSR2 CTPS2 TXLNG piR-61514-215 AP1S2 RF00020-027 RNU5F-7P GRPR
GH0XJ016184 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.7 +526.2 526236 4.2 JUND PKNOX1 DPF2 YY1 ZNF37A HMBOX1 RUNX3 NFE2 ZNF316 USF1 TXLNG GRPR CTPS2 ZRSR2 ENSG00000238178 RPL6P30 MAGEB17 S100G
GH0XJ017412 Enhancer 0.9 ENCODE 15.8 -701.5 -701546 4.5 PRDM10 ZNF629 RFX1 ZNF692 PRDM1 ZSCAN4 PATZ1 IKZF2 ZNF148 CEBPB RAI2 NHS CTPS2 TXLNG SCML1 RBBP7 RF00017-8185 piR-43105-686
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTPS2

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

Genomic Locations for CTPS2 Gene

Genomic Locations for CTPS2 Gene
chrX:16,587,999-16,712,936
(GRCh38/hg38)
Size:
124,938 bases
Orientation:
Minus strand
chrX:16,606,122-16,731,059
(GRCh37/hg19)
Size:
124,938 bases
Orientation:
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:
    Q9NRF8-PYRG2_HUMAN
    Recommended name:
    CTP synthase 2
    Protein Accession:
    Q9NRF8
    Secondary Accessions:
    • B3KWM2
    • Q9BRI0
    • Q9H809
    • Q9H8K9

    Protein attributes for CTPS2 Gene

    Size:
    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

Selected DME Specific Peptides for CTPS2 Gene

Q9NRF8:
  • KERRGDY
  • EAFRQFQFK
  • TTGKIYQ
  • GLSPDLIVCRS
  • EERHRHR
  • GGTMRLG
  • KIDPYIN
  • GTILKSCGL
  • HEAWQKLC
  • YLGKTVQ
  • GVQFHPEF
  • VPGGFGIRG
  • KALEHSALAI
  • GGVISGIGKG
  • ERRGDYLG
  • DMPEHNPG
  • ILVPGGF
  • VINKERRG
  • GGTIGDIE
  • VTAIKIDPY
  • AVIEFAR
  • DLDLGNYER
  • IHVSLVP
  • NITTGKIY
  • TGEQKTKPTQNSVR
  • EHGEVFV
  • HGEVFVL
  • LRGLGLSPDL
  • VKEKISMFCHV
  • IASSIGTILKS
  • CLGMQLAV
  • HDVSSTY
  • GNYERFLD
  • DPYINID
  • TVQVVPH
  • PYEHGEV
  • GDIEGMP
  • MADRYERL
  • CSIALVGKYTK

Post-translational modifications for CTPS2 Gene

  • Ubiquitination at Lys264
  • Modification sites at PhosphoSitePlus

Domains & Families for CTPS2 Gene

Gene Families for CTPS2 Gene

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

Protein Domains for CTPS2 Gene

InterPro:
Blocks:
  • Glutamine amidotransferase class-I
ProtoNet:

Suggested Antigen Peptide Sequences for CTPS2 Gene

GenScript: Design optimal peptide antigens:
  • UTP--ammonia ligase 2 (PYRG2_HUMAN)
  • CTP synthase II (Q5JS48_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRF8

UniProtKB/Swiss-Prot:

PYRG2_HUMAN :
  • Belongs to the CTP synthase family.
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:
Reaction=ATP + H2O + L-glutamine + UTP = ADP + CTP + 2 H(+) + L-glutamate + phosphate; Xref=Rhea:RHEA:26426, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:37563, ChEBI:CHEBI:43474, ChEBI:CHEBI:46398, ChEBI:CHEBI:58359, ChEBI:CHEBI:456216; EC=6.3.4.2;.

Enzyme Numbers (IUBMB) for CTPS2 Gene

Phenotypes From GWAS Catalog for CTPS2 Gene

Gene Ontology (GO) - Molecular Function for CTPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003883 CTP synthase activity IBA 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTPS2

Clone Products

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

Localization for CTPS2 Gene

Subcellular locations from

COMPARTMENTS
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 4
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 0

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:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0097268 cytoophidium IBA 21873635
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 IBA 21873635
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 82
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Glutamic acid Approved Nutra Agonist, Full agonist 304

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with CTPS2: view

Transcripts for CTPS2 Gene

mRNA/cDNA for CTPS2 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTPS2

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: - -
SP6:
SP7: - -

ExUns: 23b · 23c ^ 24a · 24b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CTPS2 Gene

GeneLoc Exon Structure for
CTPS2

Expression for CTPS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTPS2

SOURCE GeneReport for Unigene cluster for CTPS2 Gene:

Hs.227049

Evidence on tissue expression from TISSUES for CTPS2 Gene

  • Liver(4.3)
  • Lung(4.1)
  • Nervous system(3.1)
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
Chimpanzee
(Pan troglodytes)
Mammalia CTPS2 30 31
  • 99.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CTPS2 30 31
  • 92.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CTPS2 30 31
  • 91.75 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CTPS2 31
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ctps2 30 17 31
  • 87.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ctps2 30
  • 87.6 (n)
Oppossum
(Monodelphis domestica)
Mammalia CTPS2 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CTPS2 30 31
  • 77.42 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CTPS2 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ctps2 30
  • 73.31 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CTPsyn 31
  • 60 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05545g 30
  • 58.24 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL320C 30
  • 57.56 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA7 30 31
  • 57.26 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G30820 30
  • 58.72 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3483 31
  • 61 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cts1 30
  • 57.59 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00261 30
  • 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for CTPS2 (if available)
TreeFam:
Gene Tree for CTPS2 (if available)
Aminode:
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:

  • PYRG2_HUMAN
  • H0Y5S6_HUMAN
genes like me logo Genes that share paralogs with CTPS2: view

Variants for CTPS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTPS2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
721651 Benign: not provided 16,609,606(-) C/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CTPS2 Gene

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
CTPS2

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

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

Disorder Aliases PubMed IDs
nemaline myopathy 7
  • nem7
adenoiditis
  • chronic adenoiditis
- elite association - COSMIC cancer census association via MalaCards
Search CTPS2 in MalaCards View complete list of genes associated with diseases
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 23
  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
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for CTPS2 Gene

Sources for CTPS2 Gene