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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

POLR2L Gene

protein-coding   GIFtS: 61
GCID: GC11M000829

polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa

(Previous name: polymerase (RNA) II (DNA directed) polypeptide L (7.6kD)...)
 Explore 60 diseases affiliated with
POLR2L via our new
 Human Malady Compendium 
Biological research products
for POLR2L
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Polymerase (RNA) II (DNA Directed) Polypeptide L, 7.6kDa1 2     RNA Polymerases I, II, And III Subunit ABC52 3
RPB7.61 2 3     RPB10 Homolog2 3
RBP101 2     RPB102 5
RPABC51 2     HsRPB10b1
RPB10beta1 2     Polymerase (RNA) II (DNA Directed) Polypeptide L (7.6kD)1
HRPB7.61     DNA-Directed RNA Polymerases I, II, And III Subunit RPABC52
DNA-Directed RNA Polymerase III Subunit L2 3     EC 2.7.7.68
RNA Polymerase II 7.6 KDa Subunit2 3     

External Ids:    HGNC: 91991   Entrez Gene: 54412   Ensembl: ENSG000001777007   OMIM: 6011895   UniProtKB: P628753   

Export aliases for POLR2L gene to outside databases

Previous GC identifers: GC11U990108 GC11P000668 GC11P000355 GC11M000831 GC11M000655


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for POLR2L:
This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in
eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding
domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases.
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: RPAB5_HUMAN, P62875
Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA
precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs,
respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are
composed of mobile elements that move relative to each other. In Pol II, POLR2L/RBP10 is part of the core element with
the central large cleft (By similarity)

Gene Wiki entry for POLR2L


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POLR2L gene promoter:
         MyoD   AP-2gamma   C/EBPalpha   Egr-4   CHOP-10   HEN1   POU2F1   E2F   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLR2L promoter sequence
   Search SABiosciences Chromatin IP Primers for POLR2L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POLR2L


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

Entrez Gene cytogenetic band: 11p15   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15

POLR2L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLR2L gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M000829:  view genomic region     (about GC identifiers)

Start:
837,356 bp from pter      End:
842,545 bp from pter
Size:
5,190 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RPAB5_HUMAN, P62875 (See protein sequence)
Recommended Name: DNA-directed RNA polymerases I, II, and III subunit RPABC5  
Size: 67 amino acids; 7645 Da
Subunit: Component of the RNA polymerase I (Pol I), RNA polymerase II (Pol II) and RNA polymerase III (Pol III)
complexes consisting of at least 13, 12 and 17 subunits, respectively (By similarity)
Subcellular location: Nucleus
Secondary accessions: P52436 Q6FHX3

Explore the universe of human proteins at neXtProt for POLR2L: NX_P62875

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P62875

  • 2 DME Specific Peptides for POLR2L (P62875)
     RYCCRRM  PVRCFTCG 

    POLR2L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_066951.1  
    ENSEMBL proteins: 
     ENSP00000432807   ENSP00000324124  
    Reactome Protein details: P62875
    Human Recombinant Protein Products: 
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    Novus Biologicals POLR2L Protein
    Novus Biologicals POLR2L Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for POLR2L

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA9852112
    GO:0005654nucleoplasm TAS--
    GO:0005665DNA-directed RNA polymerase II, core complex IDA9852112


    POLR2L for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for POLR2L


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    POLR2L for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR000268 RNAP_N/Rpb10
     IPR020789 RNA_pol_suN_Zn-BS
     IPR009057 Homeodomain-like
     IPR023580 RNA_pol_su_RPB10

    Graphical View of Domain Structure for InterPro Entry P62875

    ProtoNet protein and cluster: P62875

    1 Blocks protein family: IPB000268 RNA polymerases N/8 Kd subunits

    UniProtKB/Swiss-Prot: RPAB5_HUMAN, P62875
    Similarity: Belongs to the archaeal RpoN/eukaryotic RPB10 RNA polymerase subunit family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RPAB5_HUMAN, P62875
    Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
    triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA
    precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs,
    respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are
    composed of mobile elements that move relative to each other. In Pol II, POLR2L/RBP10 is part of the core element with
    the central large cleft (By similarity)

         Genatlas biochemistry entry for POLR2L:
    polymerase II,RNA (DNA directed) small polypeptide L (7,6kDa),yeast RPB11 homolog

    Enzyme Number (IUBMB): EC 2.7.7.62

    miRNA
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    hsa-miR-525-5p hsa-miR-520a-5p
    SwitchGear 3'UTR luciferase reporter plasmidPOLR2L 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003899DNA-directed RNA polymerase activity IEA--
    GO:0004672contributes to protein kinase activity IDA9852112
    GO:0008270zinc ion binding IEA--


    POLR2L for ontologies           About GeneDecksing


    5 GenomeRNAi human phenotypes for POLR2L:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Increased S DNA content  S arrest 
     Upregulation of Wnt/beta-caten 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/17 super-pathways (see all 17About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Formation of RNA Pol II elongation complex
    8/34 pathways (see all 34)
    RNA Polymerase II Transcription Elongation1.00
    RNA Pol II CTD phosphorylation and interaction with CE0.55
    Formation of HIV-1 elongation complex in the absence of HIV-1 Tat1.00
    RNA Pol II CTD phosphorylation and interaction with CE0.55
    Formation of RNA Pol II elongation complex 1.00
    Dual incision reaction in TC-NER0.46
    Formation of HIV-1 elongation complex containing HIV-1 Tat0.98
    Formation of transcription-coupled NER (TC-NER) repair complex0.46
    2RNA Polymerase III Transcription Initiation
    8/10 pathways (see all 10)
    RNA Polymerase III Transcription Initiation1.00
    RNA Polymerase III Transcription Initiation From Type 2 Promoter0.74
    RNA Polymerase III Abortive And Retractive Initiation1.00
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.59
    RNA Polymerase III Transcription1.00
    RNA Polymerase III Chain Elongation0.51
    RNA Polymerase III Transcription Initiation From Type 3 Promoter0.80
    RNA Polymerase III Transcription Termination0.51
    3mRNA Splicing - Major Pathway
    mRNA Splicing1.00
    mRNA Processing0.82
    mRNA Splicing - Major Pathway1.00
    mRNA Splicing - Minor Pathway0.40
    Processing of Capped Intron-Containing Pre-mRNA0.96
    4HIV Infection
    HIV Infection1.00
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes0.28
    Transcription_Ligand-Dependent Transcription of Retinoid-Target genes0.28
    5Nucleotide Excision Repair
    Nucleotide Excision Repair1.00
    DNA Repair0.46
    Transcription-coupled NER (TC-NER)0.90

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for POLR2L
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes
    DNA damage Role of Brca1 and Brca2 in DNA repair
    ATP/ITP metabolism

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for POLR2L
        Assembly of RNA Polymerase-II Initiation Complex
    Transcription of mRNA

    3 GeneGo (Thomson Reuters) Pathways for POLR2L
        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 POLR2L 
        TNF-alpha/NF-kB Signaling Pathway

    5/58        Reactome Pathways for POLR2L (see all 58)
        RNA Polymerase III Transcription Initiation
    Tat-mediated HIV-1 elongation arrest and recovery
    Tat-mediated elongation of the HIV-1 transcript
    mRNA Splicing
    RNA Polymerase III Chain Elongation


    5/6         Kegg Pathways  (Kegg details for POLR2L) (see all 6):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    RNA polymerase
    Cytosolic DNA-sensing pathway


    POLR2L for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for POLR2L

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

    5/279 Interacting proteins for POLR2L (P628752, 3 ENSP000003241244) via UniProtKB, MINT, STRING, and/or I2D (see all 279)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POLR2EP193882, 3, ENSP000002155874MINT-7264825 I2D: score=8 STRING: ENSP00000215587
    CCDC85BQ158342, 3, ENSP000003116954MINT-67387 I2D: score=5 STRING: ENSP00000311695
    POLR1BQ9H9Y62, 3, ENSP000002633314MINT-7264825 I2D: score=5 STRING: ENSP00000263331
    POLR2HP524342, 3, ENSP000002962234MINT-7264825 I2D: score=4 STRING: ENSP00000296223
    POLR1DQ9Y2S02, 3, ENSP000003024784MINT-7264825 I2D: score=3 STRING: ENSP00000302478
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    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:0006356regulation of transcription from RNA polymerase I promoter TAS8786124


    POLR2L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    POLR2L for compounds           About GeneDecksing

    EMD Millipore small molecules for POLR2L:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for POLR2L
    10/75 Novoseek chemical compound relationships for POLR2L gene (see all 75)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    s-napc 86.2 8 9732265 (2), 9003788 (1), 8633057 (1), 9644240 (1) (see all 7)
    alpha-amanitin 86 44 15096519 (2), 1691987 (1), 1375332 (1), 9032404 (1) (see all 41)
    5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole 84.4 35 7592583 (2), 10757782 (1), 10980390 (1), 12574128 (1) (see all 22)
    flavopiridol 71.4 19 11431468 (3), 18000861 (2), 10906320 (1), 18509644 (1) (see all 9)
    6-azauracil 70.3 1 9326634 (1)
    5-bromo-utp 69.6 1 9880337 (1)
    roscovitine 59.9 6 15692065 (1), 19938906 (1), 15851403 (1), 16275999 (1) (see all 6)
    amatoxin 58.9 1 8061605 (1)
    ctds 58 3 8497323 (1), 17028590 (1)
    amanitin 57.5 2 8702941 (1), 8432390 (1)

    Search CenterWatch for drugs/clinical trials and news about POLR2L / RPAB5 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for POLR2L gene: 
    NM_021128.4  

    Unigene Cluster for POLR2L:

    Polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa
    Hs.441072  [show with all ESTs]
    Unigene Representative Sequence: BM919305
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534030 ENST00000322028(uc001lsc.3)

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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POLR2L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POLR2L

    Additional cDNA sequence: 

    AJ420546.1 AK311997.1 BC005903.1 BC018649.2 CR536565.1 U37690.1 

    12 DOTS entries:

    DT.448897  DT.100822667  DT.120756514  DT.101962328  DT.120756443  DT.120756501  DT.120756358  DT.120756531 
    DT.120756457  DT.102837666  DT.95215264  DT.100878646 

    24/239 AceView cDNA sequences (see all 239):

    AA811986 AA101022 AA320057 AI281988 AA683555 BQ435190 AW964519 AW054871 
    BG254257 BF793297 BG741877 CR536565 AA304009 BC005903 BQ674363 CA309593 
    NM_021128 BU679804 AW950006 BU566060 AI497696 BG338847 CB136858 AI032424 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    POLR2L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCCCTGAGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    POLR2L expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageLumbar Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    OvaryOvigerous CordOvarian Somatic CellsOvary
    Primitive StreakNotochordPrimitive Streak
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)

    See POLR2L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POLR2L

    SOURCE GeneReport for Unigene cluster: Hs.441072
        SABiosciences Custom PCR Arrays for POLR2L
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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for POLR2L

    (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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for POLR2L gene from 9/33 species (see all 33)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Polr2l1 , 5 polymerase (RNA) II (DNA directed) polypeptide L1, 5 89.55(n)1
    100(a)1
      7 (86.83 cM)5
    664911  NM_025593.11  NP_079869.11 
     1414718605 
    chicken
    (Gallus gallus)
    Aves E1BSY6_CHICK6
    Uncharacterized protein
    100(a)
    1 ↔ 1
    5(16708738-16711093)
    lizard
    (Anolis carolinensis)
    Reptilia POLR2L6
    --
    100(a)
    1 ↔ 1
    1(73484073-73493256)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.82502 Xenopus laevis transcribed sequence with strong similarity more 78.16(n)    48013373 
    zebrafish
    (Danio rerio)
    Actinopterygii AL913334.12   -- 80.98(n)    AL913334.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rpb101 , 3 transcription from Pol II promoter
    DNA-directed more3
    CG13628-PA1
    92(a)3
    79.6(n)1
    92.54(a)1
      96A183
    429421  NM_143023.11  NP_651280.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y37E3.33
    rpb-101
    Protein RPB-101 85(a)3
    73.63(n)1
    85.07(a)1
      I(2064307-2064561)3
    1717631  NM_058522.31  NP_490923.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NRPB101 DNA-directed RNA Polymerase II subunit L 70.65(n)
    80.6(a)
      837690  NM_179309.2  NP_849640.1 
    rice
    (Oryza sativa)
    Liliopsida AK108801.12   -- 76.92(n)    AK108801.1 


    ENSEMBL Gene Tree for POLR2L (if available)
    TreeFam Gene Tree for POLR2L (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for POLR2L gene

    POLR2L for paralogs           About GeneDecksing


    5/6 Pseudogenes.org Pseudogenes for POLR2L (see all 6)
    PGOHUM00000243579 PGOHUM00000245404 PGOHUM00000236884 PGOHUM00000243019 PGOHUM00000247369


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/122 NCBI SNPs in POLR2L are shown (see all 122    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs350441191,2
    C,F,--657306(+) TCCAGG/ACTGGT 1 -- us2k14Minor allele frequency- A:0.03NS NA 58
    rs1124161061,2
    C--657758(+) CGCCTC/G/TACCCC 1 -- us2k11CSA 1
    rs1113296351,2
    C--657759(+) GCCTCA/C/TCCCCT 1 -- us2k11CSA 1
    rs349403111,2
    C,F,H,--839369(+) GTAGAC/TCCTCA 1 -- ds50018Minor allele frequency- T:0.01NS NA CSA WA 721
    rs1910241371,2
    --839463(+) GCACTG/TCCTGG 1 -- ds50010--------
    rs1512356891,2
    --839476(+) AGCAGC/GGCCTC 1 -- ds50010--------
    rs358327191,2
    C,F--839532(+) CCTCCC/TTGCTG 1 -- ds50015Minor allele frequency- T:0.02NS NA CSA 93
    rs287357181,2
    C,F,--839629(+) CAGAAG/AATCTG 1 -- ds500112Minor allele frequency- A:0.30NS NA WA CSA EA 457
    rs1821241451,2
    --839656(+) CATAGC/TTGTGT 1 -- ds50010--------
    rs286924691,2
    C,F,--839675(+) AGTCTC/TACTCT 1 -- ds500110Minor allele frequency- T:0.31NA WA CSA EA 371

    HapMap Linkage Disequilibrium report for POLR2L (837356 - 842545 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for POLR2L
         6 CNVs: 29886 3831 29883 29885 31793 4726

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    DNA2.0 Custom Variant and Variant Library Synthesis for POLR2L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    POLR2L for disorders           About GeneDecksing

    OMIM gene information: 601189    OMIM disorders: --

    20/60 diseases for POLR2L (see all 60):    About MalaCards
    congenital cataracts, facial dysmorphism, and neuropathy    wiskott-aldrich syndrome    xeroderma pigmentosum    xeroderma pigmentosum, group b
    human t-cell leukemia virus type 1    inclusion body myositis    dna topoisomerase i    renal clear cell carcinoma
    cockayne syndrome    anaplastic large cell lymphoma    congenital cataracts    myxoid liposarcoma
    nonsyndromic deafness    herpes simplex    lupus erythematosus    werner syndrome
    liposarcoma    mantle cell lymphoma    systemic lupus erythematosus    cataract

    10/40 Novoseek disease relationships for POLR2L gene (see all 40)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cockayne syndrome 82.7 13 9880486 (1), 8811084 (1), 11182541 (1), 15226310 (1) (see all 12)
    group b cockayne syndrome 80.3 5 9774388 (2), 9326587 (1), 17023424 (1), 17644494 (1)
    xeroderma pigmentosum 68.4 7 1375332 (1), 9427533 (1), 11027286 (1), 8194528 (1) (see all 7)
    group a cockayne syndrome 67.4 2 17981804 (1), 17283134 (1)
    hepatitis delta 47 5 11387440 (1), 14506279 (1), 16959288 (1), 18552826 (1) (see all 5)
    immunodeficiency 44.4 23 8876177 (2), 9311822 (1), 15254183 (1), 16131488 (1) (see all 22)
    hrpt2 39.7 1 15923622 (1)
    promyelocytic leukemia 26.6 2 16287851 (1), 16249232 (1)
    ewings sarcoma 21.6 1 18677114 (1)
    leukemia t-cell 19.4 2 9032404 (1), 8657153 (1)


    Export disorders for POLR2L 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)
    About This Section

    PubMed articles for POLR2L gene, integrated from 9 sources (see all 968):
    (articles sorted by number of sources associating them with POLR2L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2004)
    2. 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. (1998)
    3. The gene (POLR2L) encoding the hRPB7.6 subunit of human RNA polymerase. (PubMed id 8786124)1, 3 Acker J....Vigneron M. (1996)
    4. Six human RNA polymerase subunits functionally substitute for their yeast counterparts. (PubMed id 8524256)1, 2 McKune K.... Woychik N.A. (1995)
    5. Four subunits that are shared by the three classes of RNA polymerase are functionally interchangeable between Homo sapiens and Saccharomyces cerevisiae. (PubMed id 7651387)1, 2 Shpakovski G.V....Vigneron M. (1995)
    6. Specific binding of RNA polymerase II to the human immunodeficiency virus trans-activating region RNA is regulated by cellular cofactors and Tat. (PubMed id 7638159)1, 9 Wu-Baer F.... Gaynor R.B. (1995)
    7. Trans-activation by human immunodeficiency virus Tat protein requires the C-terminal domain of RNA polymerase II. (PubMed id 8876177)1, 9 Okamoto H....Peterlin B.M. (1996)
    8. Purification of a Tat-associated kinase reveals a TFIIH complex that modulates HIV-1 transcription. (PubMed id 9184228)1, 9 Garcia-Martinez L.F....Gaynor R.B. (1997)
    9. The human immunodeficiency virus Tat proteins specifically associate with TAK in vivo and require the carboxyl-terminal domain of RNA polymerase II for function. (PubMed id 8676484)1, 9 Yang X....Rice A.P. (1996)
    10. Lentivirus Tat proteins specifically associate with a cellular protein kinase, TAK, that hyperphosphorylates the carboxyl-terminal domain of the large subunit of RNA polymerase II: candidate for a Tat cofactor. (PubMed id 7853496)1, 9 Herrmann C.H. and Rice A.P. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 5441 HGNC: 9199 AceView: POLR2L Ensembl:ENSG00000177700 euGenes: HUgn5441
    ECgene: POLR2L Kegg: 5441 H-InvDB: POLR2L

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for POLR2L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for POLR2L gene:
    Search GeneIP for patents involving POLR2L

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



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