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CTPS2 Gene

protein-coding   GIFtS: 62
GCID: GC0XM016606

CTP Synthase 2

(Previous name: CTP synthase II)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
CTP Synthase 21 2     Cytidine 5'-Triphosphate Synthetase 22
CTP Synthase II1 2     UTP-Ammonia Ligase 22
EC 6.3.4.23 8     CTP Synthetase 23
CTP Synthetase Type 22     UTP--Ammonia Ligase 23

External Ids:    HGNC: 25201   Entrez Gene: 564742   Ensembl: ENSG000000472307   OMIM: 3003805   UniProtKB: Q9NRF83   

Export aliases for CTPS2 gene to outside databases

Previous GC identifers: GC0XM016336 GC0XM015431 GC0XM015808 GC0XM015967 GC0XM016365 GC0XM016516 GC0XM014360


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. An important paralog of this gene is CTPS1.

UniProtKB/Swiss-Prot: PYRG2_HUMAN, Q9NRF8
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

Gene Wiki entry for CTPS2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CTPS2 gene promoter:
         E2F-1   E2F   FOXO4   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTPS2 promoter sequence
   Search Chromatin IP Primers for CTPS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CTPS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22

CTPS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CTPS2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM016606:  view genomic region     (about GC identifiers)

Start:
16,606,122 bp from pter      End:
16,731,059 bp from pter
Size:
124,938 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PYRG2_HUMAN, Q9NRF8 (See protein sequence)
Recommended Name: CTP synthase 2  
Size: 586 amino acids; 65678 Da
3 PDB 3D structures from and Proteopedia for CTPS2:
2V4U (3D)        2VKT (3D)        3IHL (3D)    
Secondary accessions: B3KWM2 Q9BRI0 Q9H809 Q9H8K9

Explore the universe of human proteins at neXtProt for CTPS2: NX_Q9NRF8

Explore proteomics data for CTPS2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys264
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CTPS2 (Q9NRF8) (see all 39)
     KERRGDY  TTGKIYQ  ILVPGGF  EERHRHR 


    See CTPS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001137474.1  NP_062831.3  NP_787055.1  

    ENSEMBL proteins: 
     ENSP00000352222   ENSP00000369590   ENSP00000400431   ENSP00000401264  
    Reactome Protein details: Q9NRF8

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    Novus Biologicals CTPS2 Protein
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    Cloud-Clone Corp. Proteins for CTPS2

     
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    antibodies-online proteins for CTPS2 (5 products) 

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR017456 CTP_synthase_N
     IPR027417 P-loop_NTPase
     IPR004468 CTP_synthase
     IPR017926 GATASE

    Graphical View of Domain Structure for InterPro Entry Q9NRF8

    ProtoNet protein and cluster: Q9NRF8

    1 Blocks protein domain: IPB000991 Glutamine amidotransferase class-I

    UniProtKB/Swiss-Prot: PYRG2_HUMAN, Q9NRF8
    Similarity: Belongs to the CTP synthase family
    Similarity: Contains 1 glutamine amidotransferase type-1 domain


    Find genes that share domains with CTPS2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PYRG2_HUMAN, Q9NRF8
    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
    Catalytic activity: ATP + UTP + L-glutamine = ADP + phosphate + CTP + L-glutamate

         Enzyme Number (IUBMB): EC 6.3.4.21 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003883CTP synthase activity EXP--
    GO:0005524ATP binding IEA--
    GO:0016787hydrolase activity ----
         
    Find genes that share ontologies with CTPS2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CTPS2:
     Synthetic lethal with c-Myc af 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ctps2):
     normal 

    Find genes that share phenotypes with CTPS2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CTPS2

    miRNA
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    miRTarBase miRNAs that target CTPS2:
    hsa-mir-192-5p (MIRT026439)

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    Selected qRT-PCR Assays for microRNAs that regulate CTPS2 (see all 13):
    hsa-miR-550a hsa-miR-205 hsa-miR-539 hsa-miR-516b hsa-miR-452* hsa-miR-876-3p hsa-miR-373* hsa-miR-145*
    SwitchGear 3'UTR luciferase reporter plasmidCTPS2 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    peroxisome2
    cytoskeleton1
    endoplasmic reticulum1
    golgi apparatus1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with CTPS2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CTPS2 About    
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (KEGG)
    Pyrimidine metabolism0.38
    UTP and CTP dephosphorylation II0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis
    superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis0.52
    UTP and CTP de novo biosynthesis0.00
    UTP and CTP dephosphorylation I0.00
    superpathway of pyrimidine ribonucleotides de novo biosynthesis0.00
    4Purine metabolism (REACTOME)
    Metabolism of nucleotides0.42
    Synthesis and interconversion of nucleotide di- and triphosphates0.00


    Find genes that share SuperPaths with CTPS2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for CTPS2
        superpathway of pyrimidine ribonucleotides de novo biosynthesis
    superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis
    UTP and CTP de novo biosynthesis
    UTP and CTP dephosphorylation II
    UTP and CTP dephosphorylation I


    1 Reactome Pathway for CTPS2
        Synthesis and interconversion of nucleotide di- and triphosphates


    2 Kegg Pathways  (Kegg details for CTPS2):
        Pyrimidine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PYRG2_HUMAN, Q9NRF8
    Pathway: Pyrimidine metabolism; CTP biosynthesis via de novo pathway; CTP from UDP: step 2/2

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CTPS2
    Interactions:

        Search GeneGlobe Interaction Network for CTPS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CTPS2 (Q9NRF82, 3 ENSP000003522224) via UniProtKB, MINT, STRING, and/or I2D (see all 109)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SPG21Q9NZD82, 3, ENSP000002045664MINT-66818 I2D: score=5 STRING: ENSP00000204566
    OTUD5Q96G743, ENSP000001560844I2D: score=2 STRING: ENSP00000156084
    WIPI2Q9Y4P83I2D: score=1 
    CTPS2Q9NRF82MINT-66115
    ENSG00000236949ENSP000004165994STRING: ENSP00000416599
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006220pyrimidine nucleotide metabolic process TAS10899599
    GO:0006221pyrimidine nucleotide biosynthetic process ----
    GO:0006541glutamine metabolic process IEA--
    GO:0015949nucleobase-containing small molecule interconversion TAS--
    GO:0044210'de novo' CTP biosynthetic process IEA--

    Find genes that share ontologies with CTPS2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CTPS2 (PYRG2)

    10 HMDB Compounds for CTPS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    AmmoniaNH3 (see all 31)7664-41-7--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Uridine triphosphate5'-UTP (see all 7)63-39-8--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CTPS2 gene (3 alternative transcripts): 
    NM_001144002.1  NM_019857.4  NM_175859.2  

    Unigene Cluster for CTPS2:

    CTP synthase 2
    Hs.227049  [show with all ESTs]
    Unigene Representative Sequence: NM_001144002
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359276(uc004cxl.3) ENST00000380241 ENST00000483053 ENST00000455276
    ENST00000443824(uc004cxk.3 uc004cxm.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CTPS2 (see all 13):
    hsa-miR-550a hsa-miR-205 hsa-miR-539 hsa-miR-516b hsa-miR-452* hsa-miR-876-3p hsa-miR-373* hsa-miR-145*
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      QuantiTect SYBR Green Assays in human, mouse, rat CTPS2
      QuantiFast Probe-based Assays in human, mouse, rat CTPS2

    Additional mRNA sequence: 

    AF226667.1 AK023549.1 AK024070.1 AK025654.1 AK125332.1 AK125348.1 AK309508.1 BC006256.2 
    BC034986.1 BX647712.1 

    10 DOTS entries:

    DT.445023  DT.97785966  DT.95368105  DT.121276649  DT.101962461  DT.40242734  DT.91792052  DT.102827208 
    DT.75175084  DT.91724737 

    Selected AceView cDNA sequences (see all 181):

    BC006256 AI990554 NM_019857 AF086422 AW087255 AA961956 AI655521 AL519186 
    AA232380 BU622170 T16647 AA233949 AA384581 BU175808 F08440 AW439035 
    CB114589 F04661 BU161470 AI346172 AK125348 AA741512 AA251012 AA730238 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CTPS2 (see all 7)    About this scheme

    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:                          -           -                                                                                                                     

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


    ECgene alternative splicing isoforms for CTPS2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CTPS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTCAGAATT
    CTPS2 Expression
    About this image


    CTPS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Neurons
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Kidney (Urinary System)
             Metanephros
    CTPS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CTPS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.227049
        Custom PCR Arrays for CTPS2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTPS2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CTPS2 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctps21 , 5 cytidine 5'-triphosphate synthase 21, 5 87.6(n)1
    90.44(a)1
      X (75.09 cM)5
    559361  NM_018737.51  NP_061207.11 
     1629012385 
    chicken
    (Gallus gallus)
    Aves CTPS21 CTP synthase II 77.42(n)
    85.49(a)
      418620  NM_001030807.1  NP_001025978.1 
    lizard
    (Anolis carolinensis)
    Reptilia CTPS26
    CTP synthase 2
    81(a)
    1 ↔ 1
    3(122032300-122113965)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ctps21 CTP synthase 2 73.31(n)
    81.11(a)
      100145472  NM_001126924.1  NP_001120396.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CTPsyn6
    CTP synthase
    60(a)
    1 → many
    3L(15091235-15106103)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes URA71 URA7 57.26(n)
    56.43(a)
      852241   NP_009514.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G308201 AT1G30820 58.72(n)
    58.48(a)
      839964  NM_102819.3  NP_174368.1 
    rice
    (Oryza sativa)
    Liliopsida AK069482.12   -- 74.52(n)    AK069482.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CTPS2 gene
    CTPS12  
    1 SIMAP similar gene for CTPS2 using alignment to 2 protein entries:     PYRG2_HUMAN (see all proteins):
    CTPS1

    Find genes that share paralogs with CTPS2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CTPS2 (see all 1825)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1445256501,2
    C--16519801(+) AGAGAC/TGGGGT 3 -- ds50010--------
    rs66328471,2
    C,F,A--16519806(+) CGGGGC/TTTCAC 3 -- ds50013Minor allele frequency- T:0.50NA WA 6
    rs1874972111,2
    --16519820(+) GTTGGC/TCAGGC 3 -- ds50010--------
    rs1922964741,2
    --16519825(+) CCAGGA/CTGGTC 3 -- ds50010--------
    rs1848049361,2
    C--16519854(+) GATCCA/GCCCGC 3 -- ds50010--------
    rs1878746191,2
    --16519957(+) TGATCC/TTTCTT 3 -- ds50010--------
    rs1929455521,2
    C--16520163(+) TCTGAC/TACATG 3 -- ut310--------
    rs1841195001,2
    --16520194(+) GCAAAC/TGCCAT 3 -- ut310--------
    rs1437251841,2
    --16520215(+) AGCCTG/TACTGA 3 -- ut310--------
    rs12191,2
    C,F,A--16520254(+) AGAAAC/TTGACA 3 -- ut317Minor allele frequency- T:0.16MN NA WA CSA 194

    HapMap Linkage Disequilibrium report for CTPS2 (16606122 - 16731059 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CTPS2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6815CNV Insertion18451855
    nsv6816CNV Insertion18451855
    esv33194CNV Loss17666407
    nsv438125CNV Loss16468122
    nsv6814CNV Loss18451855
    esv33814CNV Gain17666407

    Locus Specific Mutation Databases (LSDB): CTPS2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CTPS2
    DNA2.0 Custom Variant and Variant Library Synthesis for CTPS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300380    OMIM disorders: --


    Find genes that share disorders with CTPS2           About GenesLikeMe


    Export disorders for CTPS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CTPS2 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with CTPS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a cDNA encoding an isoform of human CTP synthetase. (PubMed id 10899599)1, 2, 3 van Kuilenburg A.B.P....van Gennip A.H. (Biochim. Biophys. Acta 2000)
    2. Expression of human CTP synthetase in Saccharomyces cerevisiae reveals phosphorylation by protein kinase A. (PubMed id 16179339)1, 2, 9 Han G.-S.... Carman G.M. (J. Biol. Chem. 2005)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 56474 HGNC: 2520 AceView: CTPS2 Ensembl:ENSG00000047230 euGenes: HUgn56474
    ECgene: CTPS2 Kegg: 56474 H-InvDB: CTPS2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CTPS2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CTPS2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CTPS2 gene:
    Search GeneIP for patents involving CTPS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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