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POLR2E (RNA polymerase II subunit E)

Identity

Alias_namespolymerase (RNA) II (DNA directed) polypeptide E (25kD)
Alias_symbol (synonym)RPB5
RPABC1
XAP4
hRPB25
hsRPB5
Other alias
HGNC (Hugo) POLR2E
LocusID (NCBI) 5434
Atlas_Id 51793
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 1086579 and ends at 1095392 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CD82 (11p11.2) / POLR2E (19p13.3)CSNK1D (17q25.3) / POLR2E (19p13.3)POLR2E (19p13.3) / POLR2E (19p13.3)
POLR2E (19p13.3) / ZNF420 (19q13.12)SPPL2B (19p13.3) / POLR2E (19p13.3)POLR2E 19p13.3 / ZNF420 19q13.12

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)POLR2E   9192
Cards
Entrez_Gene (NCBI)POLR2E  5434  RNA polymerase II subunit E
AliasesRPABC1; RPB5; XAP4; hRPB25; 
hsRPB5
GeneCards (Weizmann)POLR2E
Ensembl hg19 (Hinxton)ENSG00000099817 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000099817 [Gene_View]  chr19:1086579-1095392 [Contig_View]  POLR2E [Vega]
ICGC DataPortalENSG00000099817
TCGA cBioPortalPOLR2E
AceView (NCBI)POLR2E
Genatlas (Paris)POLR2E
WikiGenes5434
SOURCE (Princeton)POLR2E
Genetics Home Reference (NIH)POLR2E
Genomic and cartography
GoldenPath hg38 (UCSC)POLR2E  -     chr19:1086579-1095392 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POLR2E  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblPOLR2E - 19p13.3 [CytoView hg19]  POLR2E - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIPOLR2E [Mapview hg19]  POLR2E [Mapview hg38]
OMIM180664   
Gene and transcription
Genbank (Entrez)AK122813 AK295975 AK312625 BC004441 BC034144
RefSeq transcript (Entrez)NM_001316323 NM_001316324 NM_002695
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POLR2E
Cluster EST : UnigeneHs.24301 [ NCBI ]
CGAP (NCI)Hs.24301
Alternative Splicing GalleryENSG00000099817
Gene ExpressionPOLR2E [ NCBI-GEO ]   POLR2E [ EBI - ARRAY_EXPRESS ]   POLR2E [ SEEK ]   POLR2E [ MEM ]
Gene Expression Viewer (FireBrowse)POLR2E [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5434
GTEX Portal (Tissue expression)POLR2E
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19388   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP19388  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP19388
Splice isoforms : SwissVarP19388
PhosPhoSitePlusP19388
Domaine pattern : Prosite (Expaxy)RNA_POL_H_23KD (PS01110)   
Domains : Interpro (EBI)DNA_RNA_pol_RPB5_euk/virus    RNA_pol_Rpb5_N    RNA_pol_subH/Rpb5_C    RNA_pol_subH/Rpb5_CS    RpoH/RPB5   
Domain families : Pfam (Sanger)RNA_pol_Rpb5_C (PF01191)    RNA_pol_Rpb5_N (PF03871)   
Domain families : Pfam (NCBI)pfam01191    pfam03871   
Domain structure : Prodom (Prabi Lyon)RNA_pol_subH/Rpb5_C (PD005155)   
Conserved Domain (NCBI)POLR2E
DMDM Disease mutations5434
Blocks (Seattle)POLR2E
PDB (SRS)5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD   
PDB (PDBSum)5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD   
PDB (IMB)5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD   
PDB (RSDB)5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD   
Structural Biology KnowledgeBase5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD   
SCOP (Structural Classification of Proteins)5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD   
CATH (Classification of proteins structures)5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD   
SuperfamilyP19388
Human Protein AtlasENSG00000099817
Peptide AtlasP19388
HPRD15946
IPIIPI00291093   
Protein Interaction databases
DIP (DOE-UCLA)P19388
IntAct (EBI)P19388
FunCoupENSG00000099817
BioGRIDPOLR2E
STRING (EMBL)POLR2E
ZODIACPOLR2E
Ontologies - Pathways
QuickGOP19388
Ontology : AmiGOmRNA splicing, via spliceosome  RNA polymerase I activity  RNA polymerase II activity  RNA polymerase III activity  DNA binding  DNA-directed 5'-3' RNA polymerase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  DNA-directed RNA polymerase II, core complex  DNA-directed RNA polymerase III complex  DNA-directed RNA polymerase I complex  cytosol  transcription-coupled nucleotide-excision repair  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  transcription from RNA polymerase III promoter  fibroblast growth factor receptor signaling pathway  gene expression  viral process  gene silencing by RNA  positive regulation of type I interferon production  somatic stem cell population maintenance  snRNA transcription from RNA polymerase II promoter  positive regulation of gene expression, epigenetic  positive regulation of viral transcription  
Ontology : EGO-EBImRNA splicing, via spliceosome  RNA polymerase I activity  RNA polymerase II activity  RNA polymerase III activity  DNA binding  DNA-directed 5'-3' RNA polymerase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  DNA-directed RNA polymerase II, core complex  DNA-directed RNA polymerase III complex  DNA-directed RNA polymerase I complex  cytosol  transcription-coupled nucleotide-excision repair  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  transcription from RNA polymerase III promoter  fibroblast growth factor receptor signaling pathway  gene expression  viral process  gene silencing by RNA  positive regulation of type I interferon production  somatic stem cell population maintenance  snRNA transcription from RNA polymerase II promoter  positive regulation of gene expression, epigenetic  positive regulation of viral transcription  
Pathways : KEGGPurine metabolism    Pyrimidine metabolism    RNA polymerase    Cytosolic DNA-sensing pathway    Huntington's disease    Epstein-Barr virus infection   
NDEx NetworkPOLR2E
Atlas of Cancer Signalling NetworkPOLR2E
Wikipedia pathwaysPOLR2E
Orthology - Evolution
OrthoDB5434
GeneTree (enSembl)ENSG00000099817
Phylogenetic Trees/Animal Genes : TreeFamPOLR2E
HOVERGENP19388
HOGENOMP19388
Homologs : HomoloGenePOLR2E
Homology/Alignments : Family Browser (UCSC)POLR2E
Gene fusions - Rearrangements
Fusion : MitelmanCSNK1D/POLR2E [17q25.3/19p13.3]  [t(17;19)(q25;p13)]  
Fusion : MitelmanPOLR2E/ZNF420 [19p13.3/19q13.12]  [t(19;19)(p13;q13)]  
Fusion : MitelmanSPPL2B/POLR2E [19p13.3/19p13.3]  [inv(19)(p13p13)]  
Fusion: TCGAPOLR2E 19p13.3 ZNF420 19q13.12 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOLR2E [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POLR2E
dbVarPOLR2E
ClinVarPOLR2E
1000_GenomesPOLR2E 
Exome Variant ServerPOLR2E
ExAC (Exome Aggregation Consortium)POLR2E (select the gene name)
Genetic variants : HAPMAP5434
Genomic Variants (DGV)POLR2E [DGVbeta]
DECIPHERPOLR2E [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOLR2E 
Mutations
ICGC Data PortalPOLR2E 
TCGA Data PortalPOLR2E 
Broad Tumor PortalPOLR2E
OASIS PortalPOLR2E [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOLR2E  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOLR2E
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 POLR2E
DgiDB (Drug Gene Interaction Database)POLR2E
DoCM (Curated mutations)POLR2E (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POLR2E (select a term)
intoGenPOLR2E
Cancer3DPOLR2E(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM180664   
Orphanet
MedgenPOLR2E
Genetic Testing Registry POLR2E
NextProtP19388 [Medical]
TSGene5434
GENETestsPOLR2E
Target ValidationPOLR2E
Huge Navigator POLR2E [HugePedia]
snp3D : Map Gene to Disease5434
BioCentury BCIQPOLR2E
ClinGenPOLR2E
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5434
Chemical/Pharm GKB GenePA33512
Clinical trialPOLR2E
Miscellaneous
canSAR (ICR)POLR2E (select the gene name)
Probes
Litterature
PubMed158 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOLR2E
EVEXPOLR2E
GoPubMedPOLR2E
iHOPPOLR2E
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:03:52 CEST 2017

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