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ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2)

Identity

Alias_namesRBS
Roberts syndrome
establishment of cohesion 1 homolog 2 (S. cerevisiae)
Alias_symbol (synonym)EFO2
Other alias2410004I17Rik
HGNC (Hugo) ESCO2
LocusID (NCBI) 157570
Atlas_Id 50243
Location 8p21.1  [Link to chromosome band 8p21]
Location_base_pair Starts at 27774541 and ends at 27804907 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ESCO2 (8p21.1) / EPHX2 (8p21.2)ESCO2 (8p21.1) / ESCO2 (8p21.1)ESCO2 8p21.1 / EPHX2 8p21.2

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)ESCO2   27230
Cards
Entrez_Gene (NCBI)ESCO2  157570  establishment of sister chromatid cohesion N-acetyltransferase 2
Aliases2410004I17Rik; EFO2; RBS
GeneCards (Weizmann)ESCO2
Ensembl hg19 (Hinxton)ENSG00000171320 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171320 [Gene_View]  chr8:27774541-27804907 [Contig_View]  ESCO2 [Vega]
ICGC DataPortalENSG00000171320
TCGA cBioPortalESCO2
AceView (NCBI)ESCO2
Genatlas (Paris)ESCO2
WikiGenes157570
SOURCE (Princeton)ESCO2
Genetics Home Reference (NIH)ESCO2
Genomic and cartography
GoldenPath hg38 (UCSC)ESCO2  -     chr8:27774541-27804907 +  8p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ESCO2  -     8p21.1   [Description]    (hg19-Feb_2009)
EnsemblESCO2 - 8p21.1 [CytoView hg19]  ESCO2 - 8p21.1 [CytoView hg38]
Mapping of homologs : NCBIESCO2 [Mapview hg19]  ESCO2 [Mapview hg38]
OMIM268300   269000   609353   
Gene and transcription
Genbank (Entrez)AF306675 AF306676 AF306677 AF306678 AF306679
RefSeq transcript (Entrez)NM_001017420
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ESCO2
Cluster EST : UnigeneHs.99480 [ NCBI ]
CGAP (NCI)Hs.99480
Alternative Splicing GalleryENSG00000171320
Gene ExpressionESCO2 [ NCBI-GEO ]   ESCO2 [ EBI - ARRAY_EXPRESS ]   ESCO2 [ SEEK ]   ESCO2 [ MEM ]
Gene Expression Viewer (FireBrowse)ESCO2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)157570
GTEX Portal (Tissue expression)ESCO2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ56NI9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ56NI9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ56NI9
Splice isoforms : SwissVarQ56NI9
Catalytic activity : Enzyme2.3.1.- [ Enzyme-Expasy ]   2.3.1.-2.3.1.- [ IntEnz-EBI ]   2.3.1.- [ BRENDA ]   2.3.1.- [ KEGG ]   
PhosPhoSitePlusQ56NI9
Domains : Interpro (EBI)AcTrfase_ESCO_Znf_dom    ESCO_Acetyltransf_dom   
Domain families : Pfam (Sanger)Acetyltransf_13 (PF13880)    zf-C2H2_3 (PF13878)   
Domain families : Pfam (NCBI)pfam13880    pfam13878   
Conserved Domain (NCBI)ESCO2
DMDM Disease mutations157570
Blocks (Seattle)ESCO2
SuperfamilyQ56NI9
Human Protein AtlasENSG00000171320
Peptide AtlasQ56NI9
HPRD18564
IPIIPI00087498   IPI00793432   IPI00984412   IPI00977473   IPI01014035   IPI00975661   IPI00978385   
Protein Interaction databases
DIP (DOE-UCLA)Q56NI9
IntAct (EBI)Q56NI9
FunCoupENSG00000171320
BioGRIDESCO2
STRING (EMBL)ESCO2
ZODIACESCO2
Ontologies - Pathways
QuickGOQ56NI9
Ontology : AmiGOchromatin  XY body  hematopoietic progenitor cell differentiation  lysine N-acetyltransferase activity, acting on acetyl phosphate as donor  nucleus  nucleoplasm  Golgi apparatus  regulation of DNA replication  double-strand break repair  cell cycle  chromosome segregation  N-acetyltransferase activity  chromocenter  cell junction  nuclear pericentric heterochromatin  post-translational protein acetylation  site of double-strand break  metal ion binding  protein localization to chromatin  
Ontology : EGO-EBIchromatin  XY body  hematopoietic progenitor cell differentiation  lysine N-acetyltransferase activity, acting on acetyl phosphate as donor  nucleus  nucleoplasm  Golgi apparatus  regulation of DNA replication  double-strand break repair  cell cycle  chromosome segregation  N-acetyltransferase activity  chromocenter  cell junction  nuclear pericentric heterochromatin  post-translational protein acetylation  site of double-strand break  metal ion binding  protein localization to chromatin  
NDEx NetworkESCO2
Atlas of Cancer Signalling NetworkESCO2
Wikipedia pathwaysESCO2
Orthology - Evolution
OrthoDB157570
GeneTree (enSembl)ENSG00000171320
Phylogenetic Trees/Animal Genes : TreeFamESCO2
HOVERGENQ56NI9
HOGENOMQ56NI9
Homologs : HomoloGeneESCO2
Homology/Alignments : Family Browser (UCSC)ESCO2
Gene fusions - Rearrangements
Fusion : MitelmanESCO2/EPHX2 [8p21.1/8p21.2]  
Fusion: TCGAESCO2 8p21.1 EPHX2 8p21.2 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESCO2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESCO2
dbVarESCO2
ClinVarESCO2
1000_GenomesESCO2 
Exome Variant ServerESCO2
ExAC (Exome Aggregation Consortium)ESCO2 (select the gene name)
Genetic variants : HAPMAP157570
Genomic Variants (DGV)ESCO2 [DGVbeta]
DECIPHERESCO2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisESCO2 
Mutations
ICGC Data PortalESCO2 
TCGA Data PortalESCO2 
Broad Tumor PortalESCO2
OASIS PortalESCO2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESCO2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDESCO2
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)LOVD - Leiden Open Variation Database
BioMutasearch ESCO2
DgiDB (Drug Gene Interaction Database)ESCO2
DoCM (Curated mutations)ESCO2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESCO2 (select a term)
intoGenESCO2
Cancer3DESCO2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM268300    269000    609353   
Orphanet971   
MedgenESCO2
Genetic Testing Registry ESCO2
NextProtQ56NI9 [Medical]
TSGene157570
GENETestsESCO2
Huge Navigator ESCO2 [HugePedia]
snp3D : Map Gene to Disease157570
BioCentury BCIQESCO2
ClinGenESCO2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD157570
Chemical/Pharm GKB GenePA134891970
Clinical trialESCO2
Miscellaneous
canSAR (ICR)ESCO2 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESCO2
EVEXESCO2
GoPubMedESCO2
iHOPESCO2
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 : Fri May 19 12:14:58 CEST 2017

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