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POLR2C Gene

protein-coding   GIFtS: 65
GCID: GC16P057496

Polymerase (RNA) II (DNA Directed) Polypeptide C, 33kDa

(Previous name: polymerase (RNA) II (DNA directed) polypeptide C (33kD))
  Search for POLR2C
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 C, 33kDa1 2     RNA Polymerase II Subunit B32 3
RNA Polymerase II Subunit 31 2 3     Polymerase (RNA) II (DNA Directed) Polypeptide C (33kD)1
RPB312 3     RPB32
RPB332 3     DNA-Directed RNA Polymerase II Subunit RPB32
DNA-Directed RNA Polymerase II 33 KDa Polypeptide2 3     hRPB332
DNA-Directed RNA Polymerase II Subunit C2 3     hsRPB32

External Ids:    HGNC: 91891   Entrez Gene: 54322   Ensembl: ENSG000001029787   OMIM: 1806635   UniProtKB: P193873   

Export aliases for POLR2C gene to outside databases

Previous GC identifers: GC16P047891 GC16P057556 GC16P057230 GC16P057271 GC16P056054 GC16P043364


(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 POLR2C Gene:
This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing
messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer
with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A
pseudogene has been identified on chromosome 21. (provided by RefSeq, Jul 2008)

GeneCards Summary for POLR2C Gene:
POLR2C (polymerase (RNA) II (DNA directed) polypeptide C, 33kDa) is a protein-coding gene. GO annotations related to this gene include RNA polymerase II activity and protein dimerization activity.

UniProtKB/Swiss-Prot: RPB3_HUMAN, P19387
Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional
non-coding RNAs. 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. RPB3 is part of the core element with the central
large cleft and the clamp element that moves to open and close the cleft (By similarity)

Gene Wiki entry for POLR2C 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_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the POLR2C gene promoter:
         MyoD   CUTL1   CREB   MEF-2A   deltaCREB   aMEF-2   Meis-1a   Zic3   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLR2C promoter sequence
   Search Chromatin IP Primers for POLR2C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POLR2C


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

Entrez Gene cytogenetic band: 16q13-q21   Ensembl cytogenetic band:  16q21   HGNC cytogenetic band: 16q13-q21

POLR2C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLR2C gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P057496:  view genomic region     (about GC identifiers)

Start:
57,496,299 bp from pter      End:
57,505,922 bp from pter
Size:
9,624 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RPB3_HUMAN, P19387 (See protein sequence)
Recommended Name: DNA-directed RNA polymerase II subunit RPB3  
Size: 275 amino acids; 31441 Da
Subunit: Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits. RPB11/POLR2J and
RPB3/POLR2C subunits interact with each other
Secondary accessions: O15161

Explore the universe of human proteins at neXtProt for POLR2C: NX_P19387

Explore proteomics data for POLR2C at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys20, Lys81, Lys175, Lys225, Lys255
  • Modification sites at PhosphoSitePlus

  • See POLR2C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_116558.1  
    ENSEMBL proteins: 
     ENSP00000219252   ENSP00000456367  
    Reactome Protein details: P19387

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    Cloud-Clone Corp. Proteins for POLR2C

     
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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

    4 InterPro protein domains:
     IPR011263 DNA-dir_RNA_pol_RpoA/D/Rpb3
     IPR011262 DNA-dir_RNA_pol_insert
     IPR001514 DNA-dir_RNA_pol_30-40kDasu_CS
     IPR009025 RBP11-like_dimer

    Graphical View of Domain Structure for InterPro Entry P19387

    ProtoNet protein and cluster: P19387

    1 Blocks protein domain: IPB001514 DNA-directed RNA polymerase

    UniProtKB/Swiss-Prot: RPB3_HUMAN, P19387
    Similarity: Belongs to the archaeal RpoD/eukaryotic RPB3 RNA polymerase subunit family


    Find genes that share domains with POLR2C           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: RPB3_HUMAN, P19387
    Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
    triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional
    non-coding RNAs. 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. RPB3 is part of the core element with the central
    large cleft and the clamp element that moves to open and close the cleft (By similarity)

         Genatlas biochemistry entry for POLR2C:
    polymerase II,RNA (DNA directed) small polypeptide C (33kDa)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001055contributes to RNA polymerase II activity IBA--
    GO:0003677DNA binding IEA--
    GO:0003899DNA-directed RNA polymerase activity ----
    GO:0005515protein binding ----
    GO:0046983protein dimerization activity IEA--
         
    Find genes that share ontologies with POLR2C           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for POLR2C:
     Decreased viability of wild-ty  Increased S DNA content  S arrest  Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POLR2C
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    miRNA
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    miRTarBase miRNAs that target POLR2C:
    hsa-let-7b-5p (MIRT001607), hsa-mir-324-3p (MIRT042934), hsa-mir-193b-3p (MIRT041266), hsa-mir-30a-5p (MIRT028639), hsa-mir-155-5p (MIRT021037)

    Block miRNA regulation of human, mouse, rat POLR2C using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate POLR2C:
    hsa-miR-549 hsa-miR-137 hsa-miR-192* hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidPOLR2C 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
    RPB3_HUMAN, P19387: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    chloroplast1
    cytosol1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005665DNA-directed RNA polymerase II, core complex IDA9852112
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with POLR2C           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 POLR2C About   (see all 26)  
    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
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    Pyrimidine metabolism0.38
    3DNA 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
    4mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA Splicing0.78
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA Splicing - Minor Pathway0.38
    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 POLR2C           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLR2C (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 GeneGo (Thomson Reuters) Pathways for POLR2C
        DNA damage Role of Brca1 and Brca2 in DNA repair
    ATP/ITP metabolism
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    1 BioSystems Pathway for POLR2C
        Eukaryotic Transcription Initiation

    Selected Reactome Pathways for POLR2C (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 POLR2C) (see all 6):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    RNA polymerase
    Huntington's disease

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POLR2C
    Interactions:

        GeneGlobe Interaction Network for POLR2C

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

    Selected Interacting proteins for POLR2C (P193872, 3 ENSP000002192524) via UniProtKB, MINT, STRING, and/or I2D (see all 568)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2WQ96B022, 3, ENSP000003974534MINT-63530 I2D: score=5 STRING: ENSP00000397453
    NUDT21O438092, 3, ENSP000003002914MINT-8264446 I2D: score=2 STRING: ENSP00000300291
    C14orf1Q9UKR52, 3MINT-63532 I2D: score=5 
    STC2O760612, 3MINT-63527 I2D: score=5 
    LRIF1Q5T3J32, 3MINT-63531 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    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 POLR2C           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for POLR2C (RPB3)



    (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 POLR2C gene (2 alternative transcripts): 
    NM_032940.2  NM_002694.2  

    Unigene Cluster for POLR2C:

    Polymerase (RNA) II (DNA directed) polypeptide C, 33kDa
    Hs.79402  [show with all ESTs]
    Unigene Representative Sequence: NM_032940
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000219252(uc002elt.1) ENST00000563115(uc010vhq.2) ENST00000562953
    ENST00000562599 ENST00000564651 ENST00000567982 ENST00000564626 ENST00000563589

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    hsa-miR-549 hsa-miR-137 hsa-miR-192* hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidPOLR2C 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: POLR2C (NM_032940)
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      QuantiTect SYBR Green Assays in human, mouse, rat POLR2C
      QuantiFast Probe-based Assays in human, mouse, rat POLR2C

    Additional mRNA sequence: 

    AF008443.1 AJ224144.1 AK293112.1 AK295582.1 AK300124.1 BC000409.2 BC003159.1 BC028157.1 
    CR542041.1 J05448.1 

    18 DOTS entries:

    DT.100733658  DT.454003  DT.100673226  DT.419003  DT.95168015  DT.95168017  DT.100887494  DT.100765430 
    DT.100887510  DT.120657520  DT.100887499  DT.100887511  DT.92457518  DT.95320158  DT.120657607  DT.75161520 
    DT.95078452  DT.95168020 

    Selected AceView cDNA sequences (see all 376):

    AA308986 BM702967 CA941304 CR599625 BC000409 BE882336 BM852687 BU150156 
    CK819530 CR606923 BM708604 BU616926 AW236275 BQ639537 BF437515 BU729446 
    CN483589 CA941597 BE621236 CR626527 CR600374 AI356679 BF818831 BQ777113 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POLR2C (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b
    SP1:              -                                   -           -     -                     
    SP2:              -                                   -           -                           
    SP3:              -                                   -                                       
    SP4:              -                                                                           
    SP5:                                                                                          


    ECgene alternative splicing isoforms for POLR2C

    (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)
    About This Section

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    POLR2C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACAAAGCAG
    POLR2C Expression
    About this image


    POLR2C 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 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Thyroid (Endocrine System)
    POLR2C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLR2C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.79402
        Custom PCR Arrays for POLR2C
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLR2C

    (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)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for POLR2C gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Polr2c1 , 5 polymerase (RNA) II (DNA directed) polypeptide C1, 5 91.03(n)1
    99.27(a)1
      8 (46.92 cM)5
    200211  NM_009090.51  NP_033116.21 
     948574505 
    chicken
    (Gallus gallus)
    Aves POLR2C1 polymerase (RNA) II (DNA directed) polypeptide C, 33kDa 84(n)
    96.36(a)
      415635  XM_414001.3  XP_414001.1 
    lizard
    (Anolis carolinensis)
    Reptilia POLR2C6
    polymerase (RNA) II (DNA directed) polypeptide C, ...
    80(a)
    1 ↔ 1
    GL343202.1(2889123-2889766)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.168832 Xenopus laevis transcribed sequence with strong similarity more 79.09(n)    CA972428.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk48d012 wufk48d01 78.84(n)   334669  BC046047.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RpII331 , 3 transcription from Pol II promoter
    DNA-directed more3
    RNA polymerase II 33kD subunit1
    69(a)3
    68.73(n)1
    69.34(a)1
      34D63
    347961  NM_058071.31  NP_477419.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C36B1.33
    rpb-31
    DNA directed RNA polymerase II3
    rpb-31
    56(a)3
    57.74(n)1
    57.99(a)1
      I(8736829-8738823)3
    1726801  NM_059960.51  NP_492361.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPB3(YIL021W)4
    RPB31
    RNA polymerase II third largest subunit B44, part of more4
    RPB31
    51.92(n)1
    47.31(a)1
      9(312905-313861)4
    8547911, 4  NP_012243.31  NP_012243.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NRPB31 NRPB3 50.6(n)
    49.4(a)
      816035  NM_127103.2  NP_179145.1 
    rice
    (Oryza sativa)
    Liliopsida Os.55102 Oryza sativa (japonica cultivar-group) cDNA clone0 more 70.22(n)    AK120034.1 


    ENSEMBL Gene Tree for POLR2C (if available)
    TreeFam Gene Tree for POLR2C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POLR2C gene

    Find genes that share paralogs with POLR2C           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for POLR2C
    PGOHUM00000239146


    (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 POLR2C (see all 231)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1816913251,2
    --57495740(+) ATTTAC/TCAAGA 1 -- us2k10--------
    rs1864424371,2
    --57495842(+) TGGTTA/GCTCTT 1 -- us2k10--------
    rs748736971,2
    C,F--57495863(+) TTAAAT/CGTATT 1 -- us2k11Minor allele frequency- C:0.19WA 118
    rs1396681741,2
    C--57495928(+) TTGAGG/TCCCAT 1 -- us2k10--------
    rs1179086281,2
    C,F--57495942(+) AACCTC/TTCTCC 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs283626321,2
    C,F--57495978(+) TCTTTG/ATTGAG 1 -- us2k17Minor allele frequency- A:0.05MN EA WA NA 1496
    rs1908972891,2
    --57496005(+) TGCCCA/GCTGCC 1 -- us2k10--------
    rs283626331,2
    C,F--57496094(+) AAGAAC/TATTGT 1 -- us2k1 tfbs34Minor allele frequency- T:0.05MN EA NA 1492
    rs578460861,2
    C,F--57496228(+) TTTCTA/GTAGAT 1 -- us2k12Minor allele frequency- G:0.04WA 120
    rs1152586231,2
    F--57496234(+) TAGATG/ATACAA 1 -- us2k11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for POLR2C (57496299 - 57505922 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for POLR2C:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676266CNV Deletion23128226
    nsv906724CNV Loss21882294
    nsv833245CNV Loss17160897
    nsv906725CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POLR2C
    DNA2.0 Custom Variant and Variant Library Synthesis for POLR2C

    (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: 180663    OMIM disorders: --


    Find genes that share disorders with POLR2C           About GenesLikeMe

    Genetic Association Database (GAD): POLR2C
    Human Genome Epidemiology (HuGE) Navigator: POLR2C (2 documents)

    Export disorders for POLR2C 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 POLR2C gene, integrated from 10 sources (see all 141):
    (articles sorted by number of sources associating them with POLR2C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (Carcinogenesis 2009)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)1, 2 Loftus B.J.... Adams M.D. (Genomics 1999)
    4. Cloning and characterization of the human RNA polymerase I subunit hRPA40. (PubMed id 9540830)1, 2 Dammann R. and Pfeifer G.P. (Biochim. Biophys. Acta 1998)
    5. Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes. (PubMed id 9852112)1, 2 Kershnar E.... Chiang C.-M. (J. Biol. Chem. 1998)
    6. Chromosomal localization of human RNA polymerase II subunit genes. (PubMed id 8034326)1, 3 Acker J....Kedinger C. (Genomics 1994)
    7. The amino acid sequence of the human RNA polymerase II 33-kDa subunit hRPB 33 is highly conserved among eukaryotes. (PubMed id 2187864)1, 2 Pati U.K. and Weissman S.M. (J. Biol. Chem. 1990)
    8. RNA polymerase II subunit 3 is retained in the cytoplasm by its interaction with HCR, the psoriasis vulgaris candidate gene product. (PubMed id 16141233)1, 9 Corbi N....Passananti C. (J. Cell. Sci. 2005)
    9. The alpha-like RNA polymerase II core subunit 3 (RPB3) is involved in tissue-specific transcription and muscle differentiation via interaction with the myogenic factor myogenin. (PubMed id 12207009)1, 9 Corbi N....Passananti C. (FASEB J. 2002)
    10. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (PLoS ONE 2013)

    (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: 5432 HGNC: 9189 AceView: POLR2C Ensembl:ENSG00000102978 euGenes: HUgn5432
    ECgene: POLR2C Kegg: 5432 H-InvDB: POLR2C

    (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 POLR2C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for POLR2C gene:
    Search GeneIP for patents involving POLR2C

    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, LSBio, eBioscience, 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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