Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase)

Identity

Other aliasCDG1Z
EIEE50
GATD4
HGNC (Hugo) CAD
LocusID (NCBI) 790
Atlas_Id 43178
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 27217390 and ends at 27243792 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		CAD (2p23.3) / CKAP5 (11p11.2)FOXK2 (17q25.3) / CAD (2p23.3)

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)CAD   1424
Cards
Entrez_Gene (NCBI)CAD  790  carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
AliasesCDG1Z; EIEE50; GATD4
GeneCards (Weizmann)CAD
Ensembl hg19 (Hinxton)ENSG00000084774 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000084774 [Gene_View]  chr2:27217390-27243792 [Contig_View]  CAD [Vega]
ICGC DataPortalENSG00000084774
TCGA cBioPortalCAD
AceView (NCBI)CAD
Genatlas (Paris)CAD
WikiGenes790
SOURCE (Princeton)CAD
Genetics Home Reference (NIH)CAD
Genomic and cartography
GoldenPath hg38 (UCSC)CAD  -     chr2:27217390-27243792 +  2p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAD  -     2p23.3   [Description]    (hg19-Feb_2009)
EnsemblCAD - 2p23.3 [CytoView hg19]  CAD - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBICAD [Mapview hg19]  CAD [Mapview hg38]
OMIM114010   616457   
Gene and transcription
Genbank (Entrez)AB621827 AK226105 BC014178 BC065510 BG766243
RefSeq transcript (Entrez)NM_001306079 NM_004341
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAD
Cluster EST : UnigeneHs.377010 [ NCBI ]
CGAP (NCI)Hs.377010
Alternative Splicing GalleryENSG00000084774
Gene ExpressionCAD [ NCBI-GEO ]   CAD [ EBI - ARRAY_EXPRESS ]   CAD [ SEEK ]   CAD [ MEM ]
Gene Expression Viewer (FireBrowse)CAD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)790
GTEX Portal (Tissue expression)CAD
Protein : pattern, domain, 3D structure
UniProt/SwissProtP27708   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP27708  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP27708
Splice isoforms : SwissVarP27708
PhosPhoSitePlusP27708
Domaine pattern : Prosite (Expaxy)ATP_GRASP (PS50975)    CARBAMOYLTRANSFERASE (PS00097)    CPSASE_1 (PS00866)    CPSASE_2 (PS00867)    DIHYDROOROTASE_1 (PS00482)    DIHYDROOROTASE_2 (PS00483)    GATASE_TYPE_1 (PS51273)   
Domains : Interpro (EBI)###############################################################################################################################################################################################################################################################                                                                                   
Domain families : Pfam (Sanger)Amidohydro_1 (PF01979)    CPSase_L_D2 (PF02786)    CPSase_L_D3 (PF02787)    CPSase_sm_chain (PF00988)    GATase (PF00117)    MGS (PF02142)    OTCace (PF00185)    OTCace_N (PF02729)   
Domain families : Pfam (NCBI)pfam01979    pfam02786    pfam02787    pfam00988    pfam00117    pfam02142    pfam00185    pfam02729   
Domain families : Smart (EMBL)CPSase_L_D3 (SM01096)  CPSase_sm_chain (SM01097)  MGS (SM00851)  
Conserved Domain (NCBI)CAD
DMDM Disease mutations790
Blocks (Seattle)CAD
PDB (SRS)4BY3    4C6B    4C6C    4C6D    4C6E    4C6F    4C6I    4C6J    4C6K    4C6L    4C6M    4C6N    4C6O    4C6P    4C6Q    5G1N    5G1O    5G1P   
PDB (PDBSum)4BY3    4C6B    4C6C    4C6D    4C6E    4C6F    4C6I    4C6J    4C6K    4C6L    4C6M    4C6N    4C6O    4C6P    4C6Q    5G1N    5G1O    5G1P   
PDB (IMB)4BY3    4C6B    4C6C    4C6D    4C6E    4C6F    4C6I    4C6J    4C6K    4C6L    4C6M    4C6N    4C6O    4C6P    4C6Q    5G1N    5G1O    5G1P   
PDB (RSDB)4BY3    4C6B    4C6C    4C6D    4C6E    4C6F    4C6I    4C6J    4C6K    4C6L    4C6M    4C6N    4C6O    4C6P    4C6Q    5G1N    5G1O    5G1P   
Structural Biology KnowledgeBase4BY3    4C6B    4C6C    4C6D    4C6E    4C6F    4C6I    4C6J    4C6K    4C6L    4C6M    4C6N    4C6O    4C6P    4C6Q    5G1N    5G1O    5G1P   
SCOP (Structural Classification of Proteins)4BY3    4C6B    4C6C    4C6D    4C6E    4C6F    4C6I    4C6J    4C6K    4C6L    4C6M    4C6N    4C6O    4C6P    4C6Q    5G1N    5G1O    5G1P   
CATH (Classification of proteins structures)4BY3    4C6B    4C6C    4C6D    4C6E    4C6F    4C6I    4C6J    4C6K    4C6L    4C6M    4C6N    4C6O    4C6P    4C6Q    5G1N    5G1O    5G1P   
SuperfamilyP27708
Human Protein AtlasENSG00000084774
Peptide AtlasP27708
HPRD06437
IPIIPI00301263   IPI00893035   IPI00893407   IPI00894050   IPI00893143   
Protein Interaction databases
DIP (DOE-UCLA)P27708
IntAct (EBI)P27708
FunCoupENSG00000084774
BioGRIDCAD
STRING (EMBL)CAD
ZODIACCAD
Ontologies - Pathways
QuickGOP27708
Ontology : AmiGOliver development  aspartate carbamoyltransferase activity  aspartate carbamoyltransferase activity  carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity  carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity  dihydroorotase activity  dihydroorotase activity  dihydroorotase activity  protein kinase activity  ATP binding  nucleus  nucleoplasm  cytosol  cytosol  'de novo' pyrimidine nucleobase biosynthetic process  'de novo' pyrimidine nucleobase biosynthetic process  UTP biosynthetic process  glutamine metabolic process  heart development  female pregnancy  lactation  zinc ion binding  response to amine  membrane  nuclear matrix  drug metabolic process  peptidyl-threonine phosphorylation  citrulline biosynthetic process  enzyme binding  response to caffeine  animal organ regeneration  response to insulin  response to testosterone  cellular response to drug  response to starvation  identical protein binding  cell projection  neuronal cell body  terminal bouton  protein complex  'de novo' UMP biosynthetic process  pyrimidine nucleoside biosynthetic process  protein autophosphorylation  response to cortisol  extracellular exosome  aspartate binding  cellular response to epidermal growth factor stimulus  
Ontology : EGO-EBIliver development  aspartate carbamoyltransferase activity  aspartate carbamoyltransferase activity  carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity  carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity  dihydroorotase activity  dihydroorotase activity  dihydroorotase activity  protein kinase activity  ATP binding  nucleus  nucleoplasm  cytosol  cytosol  'de novo' pyrimidine nucleobase biosynthetic process  'de novo' pyrimidine nucleobase biosynthetic process  UTP biosynthetic process  glutamine metabolic process  heart development  female pregnancy  lactation  zinc ion binding  response to amine  membrane  nuclear matrix  drug metabolic process  peptidyl-threonine phosphorylation  citrulline biosynthetic process  enzyme binding  response to caffeine  animal organ regeneration  response to insulin  response to testosterone  cellular response to drug  response to starvation  identical protein binding  cell projection  neuronal cell body  terminal bouton  protein complex  'de novo' UMP biosynthetic process  pyrimidine nucleoside biosynthetic process  protein autophosphorylation  response to cortisol  extracellular exosome  aspartate binding  cellular response to epidermal growth factor stimulus  
Pathways : KEGGPyrimidine metabolism    Alanine, aspartate and glutamate metabolism   
NDEx NetworkCAD
Atlas of Cancer Signalling NetworkCAD
Wikipedia pathwaysCAD
Orthology - Evolution
OrthoDB790
GeneTree (enSembl)ENSG00000084774
Phylogenetic Trees/Animal Genes : TreeFamCAD
HOVERGENP27708
HOGENOMP27708
Homologs : HomoloGeneCAD
Homology/Alignments : Family Browser (UCSC)CAD
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAD
dbVarCAD
ClinVarCAD
1000_GenomesCAD 
Exome Variant ServerCAD
ExAC (Exome Aggregation Consortium)CAD (select the gene name)
Genetic variants : HAPMAP790
Genomic Variants (DGV)CAD [DGVbeta]
DECIPHERCAD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAD 
Mutations
ICGC Data PortalCAD 
TCGA Data PortalCAD 
Broad Tumor PortalCAD
OASIS PortalCAD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAD
intOGen PortalCAD
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
BioMutasearch CAD
DgiDB (Drug Gene Interaction Database)CAD
DoCM (Curated mutations)CAD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAD (select a term)
intoGenCAD
Cancer3DCAD(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114010    616457   
Orphanet23561   
MedgenCAD
Genetic Testing Registry CAD
NextProtP27708 [Medical]
TSGene790
GENETestsCAD
Target ValidationCAD
Huge Navigator CAD [HugePedia]
snp3D : Map Gene to Disease790
BioCentury BCIQCAD
ClinGenCAD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD790
Chemical/Pharm GKB GenePA26023
Clinical trialCAD
Miscellaneous
canSAR (ICR)CAD (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAD
EVEXCAD
GoPubMedCAD
iHOPCAD
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 : Mon Sep 18 13:48:35 CEST 2017
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

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