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

Identity

Other names2410004I17Rik
EFO2
RBS
HGNC (Hugo) ESCO2
LocusID (NCBI) 157570
Atlas_Id 50243
Location 8p21.1
Location_base_pair Starts at 27632058 and ends at 27662424 bp from pter ( according to hg19-Feb_2009)
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]  chr8:27632058-27662424 [Contig_View]  ESCO2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000171320 [Gene_View]  chr8:27632058-27662424 [Contig_View]  ESCO2 [Vega]
ICGC DataPortalENSG00000171320
TCGA cBioPortalESCO2
AceView (NCBI)ESCO2
Genatlas (Paris)ESCO2
WikiGenes157570
SOURCE (Princeton)ESCO2
Genomic and cartography
GoldenPath hg19 (UCSC)ESCO2  -     chr8:27632058-27662424 +  8p21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ESCO2  -     8p21.1   [Description]    (hg38-Dec_2013)
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)NC_000008 NC_018919 NG_008117 NT_167187 NW_004929337
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 (Uniprot)
NextProtQ56NI9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ56NI9
Splice isoforms : SwissVarQ56NI9 (Swissvar)
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   
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  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  nuclear pericentric heterochromatin  post-translational protein acetylation  site of double-strand break  metal ion binding  protein localization to chromatin  
NDEx Network
Atlas of Cancer Signalling NetworkESCO2
Wikipedia pathwaysESCO2
Orthology - Evolution
OrthoDB157570
GeneTree (enSembl)ENSG00000171320
Phylogenetic Trees/Animal Genes : TreeFamESCO2
Homologs : HomoloGeneESCO2
Homology/Alignments : Family Browser (UCSC)ESCO2
Gene fusions - Rearrangements
Fusion: TCGAESCO2 8p21.1 EPHX2 8p21.2 OV
Polymorphisms : SNP, 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]
Mutations
ICGC Data PortalESCO2 
TCGA Data PortalESCO2 
Broad Tumor PortalESCO2
OASIS PortalESCO2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESCO2 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:27632058-27662424  ENSG00000171320
CONAN: Copy Number AnalysisESCO2 
Mutations and Diseases : HGMDESCO2
OMIM268300    269000    609353   
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

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indexed on : Sat May 28 11:01:52 CEST 2016

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