Atlas of Genetics and Cytogenetics in Oncology and Haematology

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POLE2 (DNA polymerase epsilon 2, accessory subunit)

Identity

Alias_namespolymerase (DNA directed), epsilon 2 (p59 subunit)
polymerase (DNA) epsilon 2, accessory subunit
Alias_symbol (synonym)DPE2
Other alias
HGNC (Hugo) POLE2
LocusID (NCBI) 5427
Atlas_Id 41774
Location 14q21.3  [Link to chromosome band 14q21]
Location_base_pair Starts at 49643555 and ends at 49688214 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
POLE2 (14q21.3) / CYB5R4 (6q14.2)RPS29 (14q21.3) / POLE2 (14q21.3)

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)POLE2   9178
Cards
Entrez_Gene (NCBI)POLE2  5427  DNA polymerase epsilon 2, accessory subunit
AliasesDPE2
GeneCards (Weizmann)POLE2
Ensembl hg19 (Hinxton)ENSG00000100479 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100479 [Gene_View]  ENSG00000100479 [Sequence]  chr14:49643555-49688214 [Contig_View]  POLE2 [Vega]
ICGC DataPortalENSG00000100479
TCGA cBioPortalPOLE2
AceView (NCBI)POLE2
Genatlas (Paris)POLE2
WikiGenes5427
SOURCE (Princeton)POLE2
Genetics Home Reference (NIH)POLE2
Genomic and cartography
GoldenPath hg38 (UCSC)POLE2  -     chr14:49643555-49688214 -  14q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POLE2  -     14q21.3   [Description]    (hg19-Feb_2009)
GoldenPathPOLE2 - 14q21.3 [CytoView hg19]  POLE2 - 14q21.3 [CytoView hg38]
ImmunoBaseENSG00000100479
Mapping of homologs : NCBIPOLE2 [Mapview hg19]  POLE2 [Mapview hg38]
OMIM602670   
Gene and transcription
Genbank (Entrez)AF025840 AF036899 AK293163 AK314963 BC112962
RefSeq transcript (Entrez)NM_001197330 NM_001197331 NM_001348384 NM_001348385 NM_002692
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POLE2
Alternative Splicing GalleryENSG00000100479
Gene ExpressionPOLE2 [ NCBI-GEO ]   POLE2 [ EBI - ARRAY_EXPRESS ]   POLE2 [ SEEK ]   POLE2 [ MEM ]
Gene Expression Viewer (FireBrowse)POLE2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5427
GTEX Portal (Tissue expression)POLE2
Human Protein AtlasENSG00000100479-POLE2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP56282   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP56282  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP56282
Splice isoforms : SwissVarP56282
PhosPhoSitePlusP56282
Domains : Interpro (EBI)DNA_pol_a/d/e_bsu    DNA_pol_e_bsu_N    POLE2   
Domain families : Pfam (Sanger)DNA_pol_E_B (PF04042)    Dpoe2NT (PF12213)   
Domain families : Pfam (NCBI)pfam04042    pfam12213   
Conserved Domain (NCBI)POLE2
DMDM Disease mutations5427
Blocks (Seattle)POLE2
PDB (RSDB)2V6Z    5VBN   
PDB Europe2V6Z    5VBN   
PDB (PDBSum)2V6Z    5VBN   
PDB (IMB)2V6Z    5VBN   
Structural Biology KnowledgeBase2V6Z    5VBN   
SCOP (Structural Classification of Proteins)2V6Z    5VBN   
CATH (Classification of proteins structures)2V6Z    5VBN   
SuperfamilyP56282
Human Protein Atlas [tissue]ENSG00000100479-POLE2 [tissue]
Peptide AtlasP56282
HPRD16007
IPIIPI00008829   IPI00980278   IPI00977803   
Protein Interaction databases
DIP (DOE-UCLA)P56282
IntAct (EBI)P56282
FunCoupENSG00000100479
BioGRIDPOLE2
STRING (EMBL)POLE2
ZODIACPOLE2
Ontologies - Pathways
QuickGOP56282
Ontology : AmiGOG1/S transition of mitotic cell cycle  DNA binding  DNA-directed DNA polymerase activity  protein binding  nucleoplasm  nucleoplasm  DNA replication  DNA-dependent DNA replication  DNA replication initiation  DNA repair  epsilon DNA polymerase complex  epsilon DNA polymerase complex  nuclear body  telomere maintenance via semi-conservative replication  error-prone translesion synthesis  intracellular membrane-bounded organelle  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  DNA binding  DNA-directed DNA polymerase activity  protein binding  nucleoplasm  nucleoplasm  DNA replication  DNA-dependent DNA replication  DNA replication initiation  DNA repair  epsilon DNA polymerase complex  epsilon DNA polymerase complex  nuclear body  telomere maintenance via semi-conservative replication  error-prone translesion synthesis  intracellular membrane-bounded organelle  
Pathways : KEGGPurine metabolism    Pyrimidine metabolism    DNA replication    Base excision repair    Nucleotide excision repair    HTLV-I infection   
NDEx NetworkPOLE2
Atlas of Cancer Signalling NetworkPOLE2
Wikipedia pathwaysPOLE2
Orthology - Evolution
OrthoDB5427
GeneTree (enSembl)ENSG00000100479
Phylogenetic Trees/Animal Genes : TreeFamPOLE2
HOGENOMP56282
Homologs : HomoloGenePOLE2
Homology/Alignments : Family Browser (UCSC)POLE2
Gene fusions - Rearrangements
Fusion : QuiverPOLE2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOLE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POLE2
dbVarPOLE2
ClinVarPOLE2
1000_GenomesPOLE2 
Exome Variant ServerPOLE2
ExAC (Exome Aggregation Consortium)ENSG00000100479
GNOMAD BrowserENSG00000100479
Varsome BrowserPOLE2
Genetic variants : HAPMAP5427
Genomic Variants (DGV)POLE2 [DGVbeta]
DECIPHERPOLE2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOLE2 
Mutations
ICGC Data PortalPOLE2 
TCGA Data PortalPOLE2 
Broad Tumor PortalPOLE2
OASIS PortalPOLE2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOLE2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPOLE2
Mutations and Diseases : HGMDPOLE2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch POLE2
DgiDB (Drug Gene Interaction Database)POLE2
DoCM (Curated mutations)POLE2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POLE2 (select a term)
intoGenPOLE2
Cancer3DPOLE2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602670   
Orphanet
DisGeNETPOLE2
MedgenPOLE2
Genetic Testing Registry POLE2
NextProtP56282 [Medical]
TSGene5427
GENETestsPOLE2
Target ValidationPOLE2
Huge Navigator POLE2 [HugePedia]
snp3D : Map Gene to Disease5427
BioCentury BCIQPOLE2
ClinGenPOLE2
Clinical trials, drugs, therapy
Protein Interactions : CTD5427
Pharm GKB GenePA278
Clinical trialPOLE2
Miscellaneous
canSAR (ICR)POLE2 (select the gene name)
HarmonizomePOLE2
DataMed IndexPOLE2
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOLE2
EVEXPOLE2
GoPubMedPOLE2
iHOPPOLE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Jun 30 20:27:31 CEST 2020
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