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POLR2A Gene

protein-coding   GIFtS: 71
GCID: GC17P007387

Polymerase (RNA) II (DNA Directed) Polypeptide A, 220kDa

(Previous name: polymerase (RNA) II (DNA directed) polypeptide A (220kD))
(Previous symbol: POLR2)
  See POLR2A-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Polymerase (RNA) II (DNA Directed) Polypeptide A, 220kDa1 2     POLRA2
POLR21 2 3     RPB12
RNA Polymerase II Subunit B11 2 3     RPBh12
DNA-Directed RNA Polymerase II Subunit A2 3     RPO22
DNA-Directed RNA Polymerase III Largest Subunit2 3     RpIILS2
RNA-Directed RNA Polymerase II Subunit RPB12 3     DNA-Directed RNA Polymerase II Largest Subunit, RNA Polymerase II 220 Kd
Subunit2
EC 2.7.7.63 8     DNA-Directed RNA Polymerase II Subunit RPB12
RPOL22 5     hRPB2202
DNA-Directed RNA Polymerase II Largest Subunit1     hsRPB12
Polymerase (RNA) II (DNA Directed) Polypeptide A (220kD)1     EC 2.7.7.483
RNA Polymerase II 220 Kd Subunit1     

External Ids:    HGNC: 91871   Entrez Gene: 54302   Ensembl: ENSG000001812227   OMIM: 1806605   UniProtKB: P249283   

Export aliases for POLR2A gene to outside databases

Previous GC identifers: GC17M007800 GC17P008117 GC17P007330 GC17P007588 GC17P007329


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for POLR2A Gene:
This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger
RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats
that are essential for polymerase activity. These repeats contain serine and threonine residues that are
phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several
other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is
transcribed into RNA. (provided by RefSeq, Jul 2008)

GeneCards Summary for POLR2A Gene:
POLR2A (polymerase (RNA) II (DNA directed) polypeptide A, 220kDa) is a protein-coding gene. Diseases associated with POLR2A include la crosse encephalitis. GO annotations related to this gene include RNA polymerase II activity and ubiquitin protein ligase binding. An important paralog of this gene is POLR3A.

UniProtKB/Swiss-Prot: RPB1_HUMAN, P24928
Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
triphosphates as substrates. Largest and catalytic component of RNA polymerase II which synthesizes mRNA
precursors and many functional non-coding RNAs. Forms the polymerase active center together with the second
largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is
composed of mobile elements that move relative to each other. RPB1 is part of the core element with the central
large cleft, the clamp element that moves to open and close the cleft and the jaws that are thought to grab the
incoming DNA template. At the start of transcription, a single-stranded DNA template strand of the promoter is
positioned within the central active site cleft of Pol II. A bridging helix emanates from RPB1 and crosses the
cleft near the catalytic site and is thought to promote translocation of Pol II by acting as a ratchet that moves
the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of
nucleotide addition. During transcription elongation, Pol II moves on the template as the transcript elongates.
Elongation is influenced by the phosphorylation status of the C-terminal domain (CTD) of Pol II largest subunit
(RPB1), which serves as a platform for assembly of factors that regulate transcription initiation, elongation,
termination and mRNA processing. Acts as an RNA-dependent RNA polymerase when associated with small delta antigen
of Hepatitis delta virus, acting both as a replicate and transcriptase for the viral RNA circular genome

Gene Wiki entry for POLR2A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the POLR2A gene promoter:
         TBP   p53   HNF-4alpha2   Ik-3   HNF-4alpha1   RORalpha1   MZF-1   HOXA5   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLR2A promoter sequence
   Search Chromatin IP Primers for POLR2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POLR2A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

POLR2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLR2A gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P007387:  view genomic region     (about GC identifiers)

Start:
7,387,685 bp from pter      End:
7,417,935 bp from pter
Size:
30,251 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RPB1_HUMAN, P24928 (See protein sequence)
Recommended Name: DNA-directed RNA polymerase II subunit RPB1  
Size: 1970 amino acids; 217176 Da
Subunit: Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits. The phosphorylated
C-terminal domain interacts with FNBP3 and SYNCRIP. Interacts with SAFB/SAFB1. Interacts with CCNL1 and MYO1C (By
similarity). Interacts with CCNL2 and SFRS19. Component of a complex which is at least composed of
HTATSF1/Tat-SF1, the P-TEFb complex components CDK9 and CCNT1, RNA polymerase II, SUPT5H, and NCL/nucleolin.
Interacts with PAF1. Interacts (via C-terminus) with CMTR1, CTDSP1 and SCAF8. Interacts via the phosphorylated
C-terminal domain with WDR82 and with SETD1A and SETD1B only in the presence of WDR82. Interacts with ATF7IP.
When phosphorylated at 'Ser-5', interacts with MEN1; the unphosphorylated form, or phosphorylated at 'Ser-2' does
not interact. Interacts with DDX5. Interacts with RECQL5 and TCEA1; binding of RECQL5 prevents TCEA1 binding.
When phosphorylated at 'Ser-2', interacts with SUPT6H (via SH2 domain)
Miscellaneous: The binding of ribonucleoside triphosphate to the RNA polymerase II transcribing complex probably
involves a two-step mechanism. The initial binding seems to occur at the entry (E) site and involves a magnesium
ion temporarily coordinated by three conserved aspartate residues of the two largest RNA Pol II subunits. The
ribonucleoside triphosphate is transferred by a rotation to the nucleotide addition (A) site for pairing with the
template DNA. The catalytic A site involves three conserved aspartate residues of the RNA Pol II largest subunit
which permanently coordinate a second magnesium ion
Selected PDB 3D structures from and Proteopedia for POLR2A (see all 10):
2GHQ (3D)        2GHT (3D)        2LTO (3D)        3D9K (3D)        3D9L (3D)        3D9M (3D)    
Secondary accessions: A6NN93 B9EH88

Explore the universe of human proteins at neXtProt for POLR2A: NX_P24928

Explore proteomics data for POLR2A at MOPED

Post-translational modifications: 

  • The tandem 7 residues repeats in the C-terminal domain (CTD) can be highly phosphorylated. The phosphorylation
    activates Pol II. Phosphorylation occurs mainly at residues 'Ser-2' and 'Ser-5' of the heptapeptide repeat and is
    mediated, at least, by CDK7 and CDK9. CDK7 phosphorylation of POLR2A associated with DNA promotes transcription
    initiation by triggering dissociation from DNA. Phosphorylation also takes place at 'Ser-7' of the heptapepdtide
    repeat, which is required for efficient transcription of snRNA genes and processing of the transcripts. The
    phosphorylation state is believed to result from the balanced action of site-specific CTD kinases and
    phosphatases, and a 'CTD code' that specifies the position of Pol II within the transcription cycle has been
    proposed1
  • Dephosphorylated by the protein phosphatase CTDSP11
  • Ubiquitinated by WWP2 leading to proteasomal degradation (By similarity). Following UV treatment, the elongating
    form of RNA polymerase II (RNA pol IIo) is ubiquitinated UV damage sites without leading to degradation:
    ubiquitination is facilitated by KIAA1530/UVSSA and promotes RNA pol IIo backtracking to allow access to the
    nucleotide excision repair machinery1
  • Methylated at Arg-1810 by CARM1. Methylation occurs only when the CTD is hypophosphorylated, and phosphorylation
    at Ser-1805 and Ser-1808 prevent methylation (in vitro). It is assumed that methylation occurs prior to
    phosphorylation and transcription initiation. CTD methylation may facilitate the expression of select RNAs1
  • Ubiquitination2 at Lys32, Lys42, Lys163, Lys213, Lys279, Lys285, Lys619, Lys707, Lys710, Lys751,
                                 Lys758, Lys767, Lys796, Lys803, Lys812, Lys853, Lys866, Lys910, Lys940, Lys976 (see all 28)
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for POLR2A (P24928) (see all 23)
     GYKVERH  TFHYAGV  EFFFHAM  CPGHFGH 


    See POLR2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000928.1  
    ENSEMBL proteins: 
     ENSP00000314949   ENSP00000461879  
    Reactome Protein details: P24928

    POLR2A Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for POLR2A

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    POLR: RNA polymerase subunits

    Selected InterPro protein domains (see all 9):
     IPR006592 RNA_pol_N
     IPR007080 RNA_pol_Rpb1_1
     IPR007066 RNA_pol_Rpb1_3
     IPR007083 RNA_pol_Rpb1_4
     IPR000722 RNA_pol_asu

    Graphical View of Domain Structure for InterPro Entry P24928

    ProtoNet protein and cluster: P24928

    4 Blocks protein domains:
    IPB000684 Eukaryotic RNA polymerase II heptapeptide repeat
    IPB006592 RNA polymerase I subunit A
    IPB007075 RNA polymerase Rpb1
    IPB007083 RNA polymerase Rpb1


    UniProtKB/Swiss-Prot: RPB1_HUMAN, P24928
    Similarity: Belongs to the RNA polymerase beta' chain family


    Find genes that share domains with POLR2A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPB1_HUMAN, P24928
    Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
    triphosphates as substrates. Largest and catalytic component of RNA polymerase II which synthesizes mRNA
    precursors and many functional non-coding RNAs. Forms the polymerase active center together with the second
    largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is
    composed of mobile elements that move relative to each other. RPB1 is part of the core element with the central
    large cleft, the clamp element that moves to open and close the cleft and the jaws that are thought to grab the
    incoming DNA template. At the start of transcription, a single-stranded DNA template strand of the promoter is
    positioned within the central active site cleft of Pol II. A bridging helix emanates from RPB1 and crosses the
    cleft near the catalytic site and is thought to promote translocation of Pol II by acting as a ratchet that moves
    the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of
    nucleotide addition. During transcription elongation, Pol II moves on the template as the transcript elongates.
    Elongation is influenced by the phosphorylation status of the C-terminal domain (CTD) of Pol II largest subunit
    (RPB1), which serves as a platform for assembly of factors that regulate transcription initiation, elongation,
    termination and mRNA processing. Acts as an RNA-dependent RNA polymerase when associated with small delta antigen
    of Hepatitis delta virus, acting both as a replicate and transcriptase for the viral RNA circular genome
    Catalytic activity: Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1)

         Genatlas biochemistry entry for POLR2A:
    polymerase II,RNA (DNA directed) large polypeptide A (220kDa)

         Enzyme Numbers (IUBMB): EC 2.7.7.61 2 EC 2.7.7.481

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001055contributes to RNA polymerase II activity IBA--
    GO:0003677DNA binding NAS7622068
    GO:0003899DNA-directed RNA polymerase activity NAS7622068
    GO:0003968RNA-directed RNA polymerase activity IEA--
    GO:0005515protein binding IPI10075709
         
    Find genes that share ontologies with POLR2A           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for POLR2A:
     Decreased cell number, increas  Decreased viability  Nuclear 40S maturation defects 

         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Polr2a) (see all 16):
     cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  nervous system  no phenotypic analysis  normal  respiratory system 

    Find genes that share phenotypes with POLR2A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for POLR2A: Polr2atm1Cdn Polr2atm2Cdn

       genOway: Develop your customized and physiologically relevant rodent model for POLR2A

    miRNA
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    miRTarBase miRNAs that target POLR2A:
    hsa-mir-93-5p (MIRT048740), hsa-mir-320a (MIRT044694), hsa-mir-10b-5p (MIRT047400), hsa-mir-324-5p (MIRT043145), hsa-mir-10a-5p (MIRT047510), hsa-mir-744-5p (MIRT037520), hsa-let-7b-5p (MIRT051921), hsa-mir-34a-5p (MIRT025433), hsa-mir-484 (MIRT042066), hsa-mir-16-5p (MIRT051264), hsa-mir-615-3p (MIRT039757), hsa-mir-1260b (MIRT052702), hsa-mir-454-3p (MIRT039231), hsa-mir-17-3p (MIRT050740), hsa-mir-652-3p (MIRT039557)

    Block miRNA regulation of human, mouse, rat POLR2A using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate POLR2A:
    hsa-miR-3163 hsa-miR-873 hsa-miR-3613-3p hsa-miR-375 hsa-miR-2116 hsa-miR-4273 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidPOLR2A 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RPB1_HUMAN, P24928: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS7622068
    GO:0005654nucleoplasm TAS--
    GO:0005665DNA-directed RNA polymerase II, core complex IDA9852112
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with POLR2A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for POLR2A About   (see all 29)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Formation of RNA Pol II elongation complex
    mRNA Capping0.93
    Pausing and recovery of Tat-mediated HIV elongation0.72
    RNA Pol II CTD phosphorylation and interaction with CE0.93
    Tat-mediated HIV elongation arrest and recovery0.72
    RNA Pol II CTD phosphorylation and interaction with CE0.93
    Transcription of the HIV genome0.71
    Formation of the Early Elongation Complex0.77
    Abortive elongation of HIV-1 transcript in the absence of Tat0.70
    2mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA processing0.44
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA Splicing - Minor Pathway0.38
    mRNA Splicing0.78
    3Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    Pyrimidine metabolism0.38
    4DNA Repair
    Transcription-coupled NER (TC-NER)0.90
    Formation of transcription-coupled NER (TC-NER) repair complex0.65
    Nucleotide Excision Repair0.90
    DNA Repair0.45
    Dual incision reaction in TC-NER0.65
    5Assembly of RNA Polymerase-II Initiation Complex
    Assembly of RNA Polymerase-II Initiation Complex0.91
    Protein Acetylation and Deacetylation0.51
    Transcription of mRNA0.91
    Crosstalk Between CARM1 and ESRs0.39


    Find genes that share SuperPaths with POLR2A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLR2A (see all 17)
        Nuclear Receptor Activation by Vitamin-A
    Telomerase Components in Cell Signaling
    Androgen Signaling
    NF-kappaB Activation by Viruses
    Crosstalk Between CARM1 and ESRs

    3 Cell Signaling Technology (CST) Pathways for POLR2A
        Chromatin Regulation / Acetylation
    Cell Cycle / Checkpoint Control
    DNA Damage

    3 GeneGo (Thomson Reuters) Pathways for POLR2A
        DNA damage Role of Brca1 and Brca2 in DNA repair
    ATP/ITP metabolism
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    2 BioSystems Pathways for POLR2A
        mRNA processing
    Eukaryotic Transcription Initiation

    Selected Reactome Pathways for POLR2A (see all 31)
        Pausing and recovery of Tat-mediated HIV elongation
    Tat-mediated HIV elongation arrest and recovery
    Formation of RNA Pol II elongation complex
    Tat-mediated elongation of the HIV-1 transcript
    RNA Polymerase II Transcription Initiation And Promoter Clearance


    Selected Kegg Pathways  (Kegg details for POLR2A) (see all 7):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    RNA polymerase
    Huntington's disease

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POLR2A
    Interactions:

        GeneGlobe Interaction Network for POLR2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for POLR2A (P249281, 2, 3 ENSP000003149494) via UniProtKB, MINT, STRING, and/or I2D (see all 1181)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNF8Q96H201, 2, 3, ENSP000002903304EBI-295301,EBI-747719 MINT-7277005 MINT-7277033 I2D: score=1 STRING: ENSP00000290330
    DDX5P178441, 2, 3, ENSP000002257924EBI-295301,EBI-351962 MINT-7945693 I2D: score=1 STRING: ENSP00000225792
    CPSF1Q105702, 3, ENSP000003393534MINT-7945693 I2D: score=5 STRING: ENSP00000339353
    CTDP1Q9Y5B02, 3, ENSP000002995434MINT-19371 I2D: score=4 STRING: ENSP00000299543
    DHX9Q082112, 3, ENSP000003565204MINT-7945693 I2D: score=2 STRING: ENSP00000356520
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006281DNA repair TAS--
    GO:0006283transcription-coupled nucleotide-excision repair TAS--
    GO:0006289nucleotide-excision repair TAS--
    GO:0006351transcription, DNA-templated ----

    Find genes that share ontologies with POLR2A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Tocris compounds for POLR2A (RPB1)

    8 HMDB Compounds for POLR2A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Thymidine 5'-triphosphate2'-Deoxythymidine 5'-triphosphate (see all 13)365-08-2--
    Uridine triphosphate5'-UTP (see all 7)63-39-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for POLR2A gene: 
    NM_000937.4  

    Unigene Cluster for POLR2A:

    Polymerase (RNA) II (DNA directed) polypeptide A, 220kDa
    Hs.270017  [show with all ESTs]
    Unigene Representative Sequence: NM_000937
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000322644(uc002ghf.4) ENST00000572844(uc002ghe.3) ENST00000576952
    ENST00000575547 ENST00000576114 ENST00000576718 ENST00000574158 ENST00000573603
    ENST00000576553
    miRNA
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    hsa-miR-3163 hsa-miR-873 hsa-miR-3613-3p hsa-miR-375 hsa-miR-2116 hsa-miR-4273 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidPOLR2A 3' UTR sequence
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    Additional mRNA sequence: 

    AK293777.1 AK304882.1 BC067295.1 BC107140.2 BC137231.1 M21610.1 X63564.1 

    Selected DOTS entries (see all 29):

    DT.447371  DT.97800541  DT.99977706  DT.102831278  DT.86858634  DT.115898  DT.95243495  DT.99963102 
    DT.95351102  DT.100773913  DT.95243528  DT.95258876  DT.100702565  DT.120961743  DT.120961754  DT.120961778 
    DT.120961781  DT.120961799  DT.75167926  DT.86842845  DT.91745121  DT.95113267  DT.97788563  DT.97858347 

    Selected AceView cDNA sequences (see all 354):

    BF591985 BQ056284 CD244180 BM716018 BM470885 BU678159 H42773 BP366290 
    BM714182 BQ064935 BM704836 AI867684 BM553445 BM423630 BM768667 BU501761 
    BM550332 BQ946063 AA368202 R73715 CA433266 BQ378467 AI655702 AA700961 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    POLR2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCCCAGCT
    POLR2A Expression
    About this image


    POLR2A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    POLR2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLR2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.270017
        Custom PCR Arrays for POLR2A
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for POLR2A gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Polr2a1 , 5 polymerase (RNA) II (DNA directed) polypeptide A1, 5 90.17(n)1
    99.94(a)1
      11 (42.86 cM)5
    200201  NM_009089.21  NP_033115.11 
     697339975 
    lizard
    (Anolis carolinensis)
    Reptilia POLR2A6
    polymerase (RNA) II (DNA directed) polypeptide A, ...
    98(a)
    1 ↔ 1
    GL343660.1(94005-122821)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.71892 Xenopus laevis transcribed sequence with moderate similarity more 78.66(n)    CA971909.1 
    zebrafish
    (Danio rerio)
    Actinopterygii polr2a1 polymerase (RNA) II (DNA directed) polypeptide A 79.96(n)
    94.77(a)
      553347  XM_005156225.1  XP_005156282.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RpII2151 , 3 transcription from Pol II promoter
    DNA-directed more3
    RNA polymerase II 215kD subunit1
    76(a)3
    68.29(n)1
    74.96(a)1
      321001  NM_078569.21  NP_511124.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ama-11 , 3 RNA polymerase II3
    ama-11
    69(a)3
    63.27(n)1
    71.35(a)1
      IV(4248386-4257980)3
    1771901  NM_068122.61  NP_500523.41 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPO21(YDL140C)4
    RPO211
    RNA polymerase II largest subunit B220, part of central more4
    RPO211
    53.25(n)1
    55.61(a)1
      4(210561-205360)4
    8514151, 4  NP_010141.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NRPB11 NRPB1 58.53(n)
    60.73(a)
      829734  NM_119746.3  NP_195305.2 
    rice
    (Oryza sativa)
    Liliopsida AK062907.12   -- 78.23(n)    AK062907.1 


    ENSEMBL Gene Tree for POLR2A (if available)
    TreeFam Gene Tree for POLR2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POLR2A gene
    POLR3A2  
    2 SIMAP similar genes for POLR2A using alignment to 2 protein entries:     RPB1_HUMAN (see all proteins):
    POLR2    POLR3A

    Find genes that share paralogs with POLR2A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for POLR2A (see all 1069)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1480111011,2
    C,Funtested17395711(+) GTCATC/TTTCCC 2 I syn11Minor allele frequency- T:0.00NA 4552
    rs802531231,2
    --7295994(+) AAGGAC/TTTTTT 1 -- int11Minor allele frequency- T:0.50NA 2
    rs351598391,2
    C--7302341(+) GTATC-/A/AA  
            
    AAAAA
    1 -- int11NA 2
    rs1503226431,2
    C--7302341(+) GTATC-/AAAAAAA 1 -- int10--------
    rs2018187951,2
    C--7374816(+) CTGTTC/TGCAAA 1 -- us2k11Minor allele frequency- T:0.00EU 389
    rs2001591211,2
    C--7374822(+) GCAAAG/CGTTCT 1 -- us2k11Minor allele frequency- C:0.00EU 387
    rs2016499441,2
    C--7374887(+) GGCTAC/TGACTG 1 -- us2k11Minor allele frequency- T:0.00EU 593
    rs2017351511,2
    C--7374891(+) ACGACG/TGGTGT 1 -- us2k10--------
    rs116582861,2
    C,F,H--7374984(+) ACACCG/ACCCTG 1 -- us2k11Minor allele frequency- A:0.02EU 593
    rs2005922981,2
    --7374999(+) ATGGGC/GAGGCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for POLR2A (7387685 - 7417935 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for POLR2A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422288CNV Deletion17116639
    esv2677329CNV Deletion23128226
    dgv3054n71CNV Loss21882294
    nsv457659CNV Loss19166990
    nsv523672CNV Loss19592680

    Human Gene Mutation Database (HGMD): POLR2A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POLR2A
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 180660    OMIM disorders: --

    1 disease for POLR2A:    
    About MalaCards
    la crosse encephalitis

    1 disease from the University of Copenhagen DISEASES database for POLR2A:
    La Crosse encephalitis

    Find genes that share disorders with POLR2A           About GenesLikeMe

    Genetic Association Database (GAD): POLR2A
    Human Genome Epidemiology (HuGE) Navigator: POLR2A (5 documents)

    Export disorders for POLR2A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for POLR2A gene, integrated from 10 sources (see all 406):
    (articles sorted by number of sources associating them with POLR2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human gene encoding the largest subunit of RNA polymerase II. (PubMed id 7622068)1, 2, 9 Mita K.... Hayashi A. (Gene 1995)
    2. Structural mimicry in transcription regulation of human RNA polymerase II by the DNA helicase RECQL5. (PubMed id 23748380)1, 2 Kassube S.A....Nogales E. (amp 2013)
    3. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)1, 2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (Carcinogenesis 2009)
    6. MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity. (PubMed id 19106100)1, 2 Liu L.... Nakao M. (J. Biol. Chem. 2009)
    7. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 2008)
    8. Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes. (PubMed id 17998332)1, 2 Lee J.H. and Skalnik D.G. (Mol. Cell. Biol. 2008)
    9. Transcription of hepatitis delta virus RNA by RNA polymerase II. (PubMed id 18032511)1, 2 Chang J.... Taylor J. (J. Virol. 2008)
    10. The Spt6 SH2 domain binds Ser2-P RNAPII to direct Iws1-dependent mRNA splicing and export. (PubMed id 17234882)1, 2 Yoh S.M....Jones K.A. (amp 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5430 HGNC: 9187 AceView: POLR2A Ensembl:ENSG00000181222 euGenes: HUgn5430
    ECgene: POLR2A Kegg: 5430 H-InvDB: POLR2A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for POLR2A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for POLR2A gene:
    Search GeneIP for patents involving POLR2A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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