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POLR2A (RNA polymerase II subunit A)

Identity

Alias (NCBI)NEDHIB
POLR2
POLRA
RPB1
RPBh1
RPO2
RPOL2
RpIILS
hRPB220
hsRPB1
HGNC (Hugo) POLR2A
HGNC Alias symbPOLRA
RPB1
HGNC Alias nameDNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit
 RNA polymerase II subunit B1
HGNC Previous namePOLR2
HGNC Previous namepolymerase (RNA) II (DNA directed) polypeptide A, 220kDa
LocusID (NCBI) 5430
Atlas_Id 45769
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 7484366 and ends at 7514614 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)
AP2B1 (17q12) / POLR2A (17p13.1)CEP250 (20q11.22) / POLR2A (17p13.1)GPM6A (4q34.2) / POLR2A (17p13.1)
IKZF1 (7p12.2) / POLR2A (17p13.1)NUP188 (9q34.11) / POLR2A (17p13.1)POLR2A (17p13.1) / FBN3 (19p13.2)
POLR2A (17p13.1) / NECTIN2 (19q13.32)POLR2A (17p13.1) / POLR2A (17p13.1)POLR2A (17p13.1) / WRAP53 (17p13.1)
USP12 (13q12.13) / POLR2A (17p13.1)

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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(17;19)(p13;p13) POLR2A/FBN3


External links

 

Nomenclature
HGNC (Hugo)POLR2A   9187
Cards
Entrez_Gene (NCBI)POLR2A    RNA polymerase II subunit A
AliasesNEDHIB; POLR2; POLRA; RPB1; 
RPBh1; RPO2; RPOL2; RpIILS; hRPB220; hsRPB1
GeneCards (Weizmann)POLR2A
Ensembl hg19 (Hinxton)ENSG00000181222 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181222 [Gene_View]  ENSG00000181222 [Sequence]  chr17:7484366-7514614 [Contig_View]  POLR2A [Vega]
ICGC DataPortalENSG00000181222
TCGA cBioPortalPOLR2A
AceView (NCBI)POLR2A
Genatlas (Paris)POLR2A
SOURCE (Princeton)POLR2A
Genetics Home Reference (NIH)POLR2A
Genomic and cartography
GoldenPath hg38 (UCSC)POLR2A  -     chr17:7484366-7514614 +  17p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POLR2A  -     17p13.1   [Description]    (hg19-Feb_2009)
GoldenPathPOLR2A - 17p13.1 [CytoView hg19]  POLR2A - 17p13.1 [CytoView hg38]
ImmunoBaseENSG00000181222
Genome Data Viewer NCBIPOLR2A [Mapview hg19]  
OMIM180660   618603   
Gene and transcription
Genbank (Entrez)AK293777 AK304882 AW589665 BC067295 BC107140
RefSeq transcript (Entrez)NM_000937
Consensus coding sequences : CCDS (NCBI)POLR2A
Gene ExpressionPOLR2A [ NCBI-GEO ]   POLR2A [ EBI - ARRAY_EXPRESS ]   POLR2A [ SEEK ]   POLR2A [ MEM ]
Gene Expression Viewer (FireBrowse)POLR2A [ Firebrowse - Broad ]
GenevisibleExpression of POLR2A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5430
GTEX Portal (Tissue expression)POLR2A
Human Protein AtlasENSG00000181222-POLR2A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP24928   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP24928  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP24928
Catalytic activity : Enzyme2.7.7.6 [ Enzyme-Expasy ]   2.7.7.62.7.7.6 [ IntEnz-EBI ]   2.7.7.6 [ BRENDA ]   2.7.7.6 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP24928
Domaine pattern : Prosite (Expaxy)RNA_POL_II_REPEAT (PS00115)   
Domains : Interpro (EBI)RNA_pol_asu    RNA_pol_II_repeat_euk    RNA_pol_N    RNA_pol_Rpb1_1    RNA_pol_Rpb1_3    RNA_pol_Rpb1_3_sf    RNA_pol_Rpb1_4    RNA_pol_Rpb1_5    RNA_pol_Rpb1_6    RNA_pol_Rpb1_7    RNA_pol_Rpb1_7_sf    Rpb1_funnel_sf   
Domain families : Pfam (Sanger)RNA_pol_Rpb1_1 (PF04997)    RNA_pol_Rpb1_2 (PF00623)    RNA_pol_Rpb1_3 (PF04983)    RNA_pol_Rpb1_4 (PF05000)    RNA_pol_Rpb1_5 (PF04998)    RNA_pol_Rpb1_6 (PF04992)    RNA_pol_Rpb1_7 (PF04990)    RNA_pol_Rpb1_R (PF05001)   
Domain families : Pfam (NCBI)pfam04997    pfam00623    pfam04983    pfam05000    pfam04998    pfam04992    pfam04990    pfam05001   
Domain families : Smart (EMBL)RPOLA_N (SM00663)  
Conserved Domain (NCBI)POLR2A
PDB (RSDB)2GHQ    2GHT    2LTO    3D9K    3D9L    3D9M    3D9N    3D9O    3D9P    4JXT    5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD    5M3H    5M3J    6DRD    6F5P    6G0R    6IC8    6IC9    6O9L    6Q5Y   
PDB Europe2GHQ    2GHT    2LTO    3D9K    3D9L    3D9M    3D9N    3D9O    3D9P    4JXT    5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD    5M3H    5M3J    6DRD    6F5P    6G0R    6IC8    6IC9    6O9L    6Q5Y   
PDB (PDBSum)2GHQ    2GHT    2LTO    3D9K    3D9L    3D9M    3D9N    3D9O    3D9P    4JXT    5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD    5M3H    5M3J    6DRD    6F5P    6G0R    6IC8    6IC9    6O9L    6Q5Y   
PDB (IMB)2GHQ    2GHT    2LTO    3D9K    3D9L    3D9M    3D9N    3D9O    3D9P    4JXT    5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD    5M3H    5M3J    6DRD    6F5P    6G0R    6IC8    6IC9    6O9L    6Q5Y   
Structural Biology KnowledgeBase2GHQ    2GHT    2LTO    3D9K    3D9L    3D9M    3D9N    3D9O    3D9P    4JXT    5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD    5M3H    5M3J    6DRD    6F5P    6G0R    6IC8    6IC9    6O9L    6Q5Y   
SCOP (Structural Classification of Proteins)2GHQ    2GHT    2LTO    3D9K    3D9L    3D9M    3D9N    3D9O    3D9P    4JXT    5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD    5M3H    5M3J    6DRD    6F5P    6G0R    6IC8    6IC9    6O9L    6Q5Y   
CATH (Classification of proteins structures)2GHQ    2GHT    2LTO    3D9K    3D9L    3D9M    3D9N    3D9O    3D9P    4JXT    5IY6    5IY7    5IY8    5IY9    5IYA    5IYB    5IYC    5IYD    5M3H    5M3J    6DRD    6F5P    6G0R    6IC8    6IC9    6O9L    6Q5Y   
SuperfamilyP24928
AlphaFold pdb e-kbP24928   
Human Protein Atlas [tissue]ENSG00000181222-POLR2A [tissue]
HPRD08916
Protein Interaction databases
DIP (DOE-UCLA)P24928
IntAct (EBI)P24928
BioGRIDPOLR2A
STRING (EMBL)POLR2A
ZODIACPOLR2A
Ontologies - Pathways
QuickGOP24928
Ontology : AmiGOmRNA splicing, via spliceosome  RNA polymerase II activity  transcription, RNA-templated  DNA binding  RNA binding  DNA-directed 5'-3' RNA polymerase activity  DNA-directed 5'-3' RNA polymerase activity  RNA-directed 5'-3' RNA polymerase activity  protein binding  protein binding  nucleus  nucleus  nucleoplasm  RNA polymerase II, core complex  RNA polymerase II, core complex  chromosome  nucleolus  cytoplasm  transcription-coupled nucleotide-excision repair  transcription, DNA-templated  DNA-templated transcription, termination  regulation of transcription, DNA-templated  transcription by RNA polymerase II  transcription by RNA polymerase II  transcription by RNA polymerase II  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  protein C-terminus binding  fibroblast growth factor receptor signaling pathway  RNA metabolic process  kinase binding  ubiquitin protein ligase binding  positive regulation of RNA splicing  snRNA transcription by RNA polymerase II  metal ion binding  negative regulation of DNA recombination at telomere  positive regulation of viral transcription  regulation of gene silencing by miRNA  promoter-specific chromatin binding  
Ontology : EGO-EBImRNA splicing, via spliceosome  RNA polymerase II activity  transcription, RNA-templated  DNA binding  RNA binding  DNA-directed 5'-3' RNA polymerase activity  DNA-directed 5'-3' RNA polymerase activity  RNA-directed 5'-3' RNA polymerase activity  protein binding  protein binding  nucleus  nucleus  nucleoplasm  RNA polymerase II, core complex  RNA polymerase II, core complex  chromosome  nucleolus  cytoplasm  transcription-coupled nucleotide-excision repair  transcription, DNA-templated  DNA-templated transcription, termination  regulation of transcription, DNA-templated  transcription by RNA polymerase II  transcription by RNA polymerase II  transcription by RNA polymerase II  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  protein C-terminus binding  fibroblast growth factor receptor signaling pathway  RNA metabolic process  kinase binding  ubiquitin protein ligase binding  positive regulation of RNA splicing  snRNA transcription by RNA polymerase II  metal ion binding  negative regulation of DNA recombination at telomere  positive regulation of viral transcription  regulation of gene silencing by miRNA  promoter-specific chromatin binding  
Pathways : KEGGPurine metabolism    Pyrimidine metabolism    RNA polymerase    Huntington's disease    Herpes simplex infection    Epstein-Barr virus infection   
NDEx NetworkPOLR2A
Atlas of Cancer Signalling NetworkPOLR2A
Wikipedia pathwaysPOLR2A
Orthology - Evolution
OrthoDB5430
GeneTree (enSembl)ENSG00000181222
Phylogenetic Trees/Animal Genes : TreeFamPOLR2A
Homologs : HomoloGenePOLR2A
Homology/Alignments : Family Browser (UCSC)POLR2A
Gene fusions - Rearrangements
Fusion : MitelmanPOLR2A/FBN3 [17p13.1/19p13.2]  
Fusion : MitelmanPOLR2A/WRAP53 [17p13.1/17p13.1]  
Fusion : QuiverPOLR2A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOLR2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POLR2A
dbVarPOLR2A
ClinVarPOLR2A
MonarchPOLR2A
1000_GenomesPOLR2A 
Exome Variant ServerPOLR2A
GNOMAD BrowserENSG00000181222
Varsome BrowserPOLR2A
ACMGPOLR2A variants
VarityP24928
Genomic Variants (DGV)POLR2A [DGVbeta]
DECIPHERPOLR2A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOLR2A 
Mutations
ICGC Data PortalPOLR2A 
TCGA Data PortalPOLR2A 
Broad Tumor PortalPOLR2A
OASIS PortalPOLR2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOLR2A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPOLR2A
Mutations and Diseases : HGMDPOLR2A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPOLR2A
DgiDB (Drug Gene Interaction Database)POLR2A
DoCM (Curated mutations)POLR2A
CIViC (Clinical Interpretations of Variants in Cancer)POLR2A
Cancer3DPOLR2A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM180660    618603   
Orphanet
DisGeNETPOLR2A
MedgenPOLR2A
Genetic Testing Registry POLR2A
NextProtP24928 [Medical]
GENETestsPOLR2A
Target ValidationPOLR2A
Huge Navigator POLR2A [HugePedia]
ClinGenPOLR2A
Clinical trials, drugs, therapy
MyCancerGenomePOLR2A
Protein Interactions : CTDPOLR2A
Pharm GKB GenePA33507
PharosP24928
Clinical trialPOLR2A
Miscellaneous
canSAR (ICR)POLR2A
HarmonizomePOLR2A
DataMed IndexPOLR2A
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPOLR2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:26:05 CEST 2021

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