Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CTPS2 (CTP synthase 2)

Identity

Alias_namesCTP synthase II
Other alias-
HGNC (Hugo) CTPS2
LocusID (NCBI) 56474
Atlas_Id 40200
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 16606122 and ends at 16730340 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CTPS2 (Xp22.2) / CTPS2 (Xp22.2)CTPS2 (Xp22.2) / RBBP7 (Xp22.2)CTPS2 (Xp22.2) / SEC31A (4q21.22)
ERCC1 (19q13.32) / CTPS2 (Xp22.2)HPRT1 (Xq26.2) / CTPS2 (Xp22.2)CTPS2 Xp22.2 / RBBP7 Xp22.2
HPRT1 Xq26.2 / CTPS2 Xp22.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CTPS2   2520
Cards
Entrez_Gene (NCBI)CTPS2  56474  CTP synthase 2
Aliases
GeneCards (Weizmann)CTPS2
Ensembl hg19 (Hinxton)ENSG00000047230 [Gene_View]  chrX:16606122-16730340 [Contig_View]  CTPS2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000047230 [Gene_View]  chrX:16606122-16730340 [Contig_View]  CTPS2 [Vega]
ICGC DataPortalENSG00000047230
TCGA cBioPortalCTPS2
AceView (NCBI)CTPS2
Genatlas (Paris)CTPS2
WikiGenes56474
SOURCE (Princeton)CTPS2
Genetics Home Reference (NIH)CTPS2
Genomic and cartography
GoldenPath hg19 (UCSC)CTPS2  -     chrX:16606122-16730340 -  Xp22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CTPS2  -     Xp22.2   [Description]    (hg38-Dec_2013)
EnsemblCTPS2 - Xp22.2 [CytoView hg19]  CTPS2 - Xp22.2 [CytoView hg38]
Mapping of homologs : NCBICTPS2 [Mapview hg19]  CTPS2 [Mapview hg38]
OMIM300380   
Gene and transcription
Genbank (Entrez)AF086422 AF226667 AK023549 AK024070 AK025654
RefSeq transcript (Entrez)NM_001144002 NM_019857 NM_175859
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_013229 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)CTPS2
Cluster EST : UnigeneHs.227049 [ NCBI ]
CGAP (NCI)Hs.227049
Alternative Splicing GalleryENSG00000047230
Gene ExpressionCTPS2 [ NCBI-GEO ]   CTPS2 [ EBI - ARRAY_EXPRESS ]   CTPS2 [ SEEK ]   CTPS2 [ MEM ]
Gene Expression Viewer (FireBrowse)CTPS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56474
GTEX Portal (Tissue expression)CTPS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRF8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NRF8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRF8
Splice isoforms : SwissVarQ9NRF8
Catalytic activity : Enzyme6.3.4.2 [ Enzyme-Expasy ]   6.3.4.26.3.4.2 [ IntEnz-EBI ]   6.3.4.2 [ BRENDA ]   6.3.4.2 [ KEGG ]   
PhosPhoSitePlusQ9NRF8
Domaine pattern : Prosite (Expaxy)GATASE_TYPE_1 (PS51273)   
Domains : Interpro (EBI)Class_I_gatase-like    CTP_synthase    CTP_synthase_N    GATASE    P-loop_NTPase   
Domain families : Pfam (Sanger)CTP_synth_N (PF06418)    GATase (PF00117)   
Domain families : Pfam (NCBI)pfam06418    pfam00117   
Conserved Domain (NCBI)CTPS2
DMDM Disease mutations56474
Blocks (Seattle)CTPS2
PDB (SRS)2V4U    2VKT    3IHL   
PDB (PDBSum)2V4U    2VKT    3IHL   
PDB (IMB)2V4U    2VKT    3IHL   
PDB (RSDB)2V4U    2VKT    3IHL   
Structural Biology KnowledgeBase2V4U    2VKT    3IHL   
SCOP (Structural Classification of Proteins)2V4U    2VKT    3IHL   
CATH (Classification of proteins structures)2V4U    2VKT    3IHL   
SuperfamilyQ9NRF8
Human Protein AtlasENSG00000047230
Peptide AtlasQ9NRF8
HPRD02305
IPIIPI00645702   IPI00553127   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRF8
IntAct (EBI)Q9NRF8
FunCoupENSG00000047230
BioGRIDCTPS2
STRING (EMBL)CTPS2
ZODIACCTPS2
Ontologies - Pathways
QuickGOQ9NRF8
Ontology : AmiGOCTP synthase activity  protein binding  ATP binding  mitochondrion  cytosol  pyrimidine nucleotide metabolic process  glutamine metabolic process  nucleobase-containing small molecule interconversion  'de novo' CTP biosynthetic process  
Ontology : EGO-EBICTP synthase activity  protein binding  ATP binding  mitochondrion  cytosol  pyrimidine nucleotide metabolic process  glutamine metabolic process  nucleobase-containing small molecule interconversion  'de novo' CTP biosynthetic process  
Pathways : KEGGPyrimidine metabolism   
NDEx NetworkCTPS2
Atlas of Cancer Signalling NetworkCTPS2
Wikipedia pathwaysCTPS2
Orthology - Evolution
OrthoDB56474
GeneTree (enSembl)ENSG00000047230
Phylogenetic Trees/Animal Genes : TreeFamCTPS2
HOVERGENQ9NRF8
HOGENOMQ9NRF8
Homologs : HomoloGeneCTPS2
Homology/Alignments : Family Browser (UCSC)CTPS2
Gene fusions - Rearrangements
Fusion : MitelmanCTPS2/RBBP7 [Xp22.2/Xp22.2]  
Fusion : MitelmanHPRT1/CTPS2 [Xq26.2/Xp22.2]  [t(X;X)(p22;q26)]  
Fusion: TCGACTPS2 Xp22.2 RBBP7 Xp22.2 BRCA
Fusion: TCGAHPRT1 Xq26.2 CTPS2 Xp22.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCTPS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CTPS2
dbVarCTPS2
ClinVarCTPS2
1000_GenomesCTPS2 
Exome Variant ServerCTPS2
ExAC (Exome Aggregation Consortium)CTPS2 (select the gene name)
Genetic variants : HAPMAP56474
Genomic Variants (DGV)CTPS2 [DGVbeta]
DECIPHER (Syndromes)X:16606122-16730340  ENSG00000047230
CONAN: Copy Number AnalysisCTPS2 
Mutations
ICGC Data PortalCTPS2 
TCGA Data PortalCTPS2 
Broad Tumor PortalCTPS2
OASIS PortalCTPS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCTPS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCTPS2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CTPS2
DgiDB (Drug Gene Interaction Database)CTPS2
DoCM (Curated mutations)CTPS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CTPS2 (select a term)
intoGenCTPS2
Cancer3DCTPS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300380   
Orphanet
MedgenCTPS2
Genetic Testing Registry CTPS2
NextProtQ9NRF8 [Medical]
TSGene56474
GENETestsCTPS2
Huge Navigator CTPS2 [HugePedia]
snp3D : Map Gene to Disease56474
BioCentury BCIQCTPS2
ClinGenCTPS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56474
Chemical/Pharm GKB GenePA27021
Clinical trialCTPS2
Miscellaneous
canSAR (ICR)CTPS2 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCTPS2
EVEXCTPS2
GoPubMedCTPS2
iHOPCTPS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:02:11 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.