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

POLR3B Gene

protein-coding   GIFtS: 62
GCID: GC12P106751

Polymerase (RNA) III (DNA Directed) Polypeptide B

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Polymerase (RNA) III (DNA Directed) Polypeptide B1 2     EC 2.7.7.63 8
C1282 3     HLD82
DNA-Directed RNA Polymerase III 127.6 KDa Polypeptide2 3     RPC22
DNA-Directed RNA Polymerase III Subunit B2 3     DNA-Directed RNA Polymerase III Subunit RPC22
RNA Polymerase III Subunit C22 3     

External Ids:    HGNC: 303481   Entrez Gene: 557032   Ensembl: ENSG000000135037   OMIM: 6143665   UniProtKB: Q9NW083   

Export aliases for POLR3B gene to outside databases

Previous GC identifers: GC12P105254 GC12P105255 GC12P103811


(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 POLR3B Gene:
This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing
transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic
center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively
spliced transcript variants encoding multiple isoforms have been observed for this gene. (provided by RefSeq, Dec
2011)

GeneCards Summary for POLR3B Gene: 
POLR3B (polymerase (RNA) III (DNA directed) polypeptide B) is a protein-coding gene. Diseases associated with POLR3B include pol iii-related leukodystrophies, and leukodystrophy, and among its related super-pathways are RNA Polymerase III Transcription Initiation and Purine metabolism. GO annotations related to this gene include DNA-directed RNA polymerase activity and ribonucleoside binding. An important paralog of this gene is POLR2B.

UniProtKB/Swiss-Prot: RPC2_HUMAN, Q9NW08
Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
triphosphates as substrates. Second largest core component of RNA polymerase III which synthesizes small RNAs,
such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase
active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the
core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By
similarity). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts
as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as
template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr
virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POLR3B gene promoter:
         AREB6   C/EBPbeta   AML1a   AP-1   POU2F1   POU2F1a   POU2F1b   HOXA5   POU2F1c   FOXO3b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLR3B promoter sequence
   Search SABiosciences Chromatin IP Primers for POLR3B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POLR3B


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

Entrez Gene cytogenetic band: 12q23.3   Ensembl cytogenetic band:  12q23.3   HGNC cytogenetic band: 12q24

POLR3B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLR3B gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P106751:  view genomic region     (about GC identifiers)

Start:
106,751,436 bp from pter      End:
106,903,976 bp from pter
Size:
152,541 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RPC2_HUMAN, Q9NW08 (See protein sequence)
Recommended Name: DNA-directed RNA polymerase III subunit RPC2  
Size: 1133 amino acids; 127785 Da
Subunit: Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits (By similarity)
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=BAA91527.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA91581.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K6H0 B3KV73 F5H1E6 Q9NW59
Alternative splicing: 2 isoforms:  Q9NW08-1   Q9NW08-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for POLR3B: NX_Q9NW08

Explore proteomics data for POLR3B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NW08

  • 4/17 DME Specific Peptides for POLR3B (Q9NW08) (see all 17)
     GDKFSSR  GEMERDC  KLLFQEL  AMGKQAMG 

    POLR3B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    POLR3B Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001154180.1  NP_060552.4  

    ENSEMBL proteins: 
     ENSP00000228347   ENSP00000445721   ENSP00000448398  
    Reactome Protein details: Q9NW08
    Human Recombinant Protein Products for POLR3B: 
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    Novus Biologicals POLR3B Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for POLR3B 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005666DNA-directed RNA polymerase III complex IBA--
    GO:0005829cytosol TAS--

    POLR3B for ontologies           About GeneDecksing



    POLR3B Antibody Products: 
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    Cloud-Clone Corp. ELISAs for POLR3B 
    Cloud-Clone Corp. CLIAs for POLR3B


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

    5/10 InterPro protein domains (see all 10):
     IPR007120 DNA-dir_RNA_pol_su2_6
     IPR007641 RNA_pol_Rpb2_7
     IPR007644 RNA_pol_bsu_protrusion
     IPR015712 DNA-dir_RNA_pol_su2
     IPR007645 RNA_pol_Rpb2_3

    Graphical View of Domain Structure for InterPro Entry Q9NW08

    ProtoNet protein and cluster: Q9NW08

    2 Blocks protein domains:
    IPB007646 RNA polymerase Rpb2
    IPB007647 RNA polymerase Rpb2


    UniProtKB/Swiss-Prot: RPC2_HUMAN, Q9NW08
    Similarity: Belongs to the RNA polymerase beta chain family


    POLR3B for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPC2_HUMAN, Q9NW08
    Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
    triphosphates as substrates. Second largest core component of RNA polymerase III which synthesizes small RNAs,
    such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase
    active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the
    core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By
    similarity). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts
    as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as
    template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr
    virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway
    Catalytic activity: Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1)

         Enzyme Number (IUBMB): EC 2.7.7.61 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001056contributes to RNA polymerase III activity IBA--
    GO:0003677DNA binding IEA--
    GO:0003899DNA-directed RNA polymerase activity ----
    GO:0032549ribonucleoside binding IEA--
    GO:0046872metal ion binding IEA--
         
    POLR3B for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for POLR3B:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for POLR3B 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for POLR3B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POLR3B 
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate POLR3B:
    hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidPOLR3B 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for POLR3B About   (see all 9)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation0.80
    RNA Polymerase III Transcription Initiation From Type 2 Promoter0.74
    RNA Polymerase III Transcription0.80
    RNA Polymerase III Chain Elongation0.69
    RNA Polymerase III Abortive And Retractive Initiation0.80
    RNA Polymerase III Transcription Termination0.69
    RNA Polymerase III Transcription Initiation From Type 3 Promoter0.80
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.59
    2Purine metabolism
    Purine metabolism0.38
    ATP/ITP metabolism0.31
    Pyrimidine metabolism0.38
    3Cytosolic DNA-sensing pathway
    Cytosolic DNA-sensing pathway0.36
    Cytosolic sensors of pathogen-associated DNA 0.36
    4Immune System
    Immune System0.56
    Innate Immune System0.50
    5Transcription
    Transcription0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for POLR3B
        ATP/ITP metabolism


    1 GeneGo (Thomson Reuters) Pathway for POLR3B
        ATP/ITP metabolism

    1 BioSystems Pathway for POLR3B
        Eukaryotic Transcription Initiation

    5/14        Reactome Pathways for POLR3B (see all 14)
        RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation From Type 3 Promoter
    Cytosolic sensors of pathogen-associated DNA
    RNA Polymerase III Chain Elongation
    Transcription


    5/6         Kegg Pathways  (Kegg details for POLR3B) (see all 6):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    RNA polymerase
    Cytosolic DNA-sensing pathway


    POLR3B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for POLR3B

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

    5/193 Interacting proteins for POLR3B (Q9NW083 ENSP000002283474) via UniProtKB, MINT, STRING, and/or I2D (see all 193)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent ----
    GO:0006383transcription from RNA polymerase III promoter TAS--
    GO:0006385transcription elongation from RNA polymerase III promoter TAS--
    GO:0006386termination of RNA polymerase III transcription TAS--
    GO:0010467gene expression TAS--

    POLR3B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for POLR3B:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for POLR3B (RPC2)

    4 HMDB Compounds for POLR3B    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--
    Thymidine 5'-triphosphate2'-Deoxythymidine 5'-triphosphate (see all 13)365-08-2--

    Search CenterWatch for drugs/clinical trials and news about POLR3B / RPC2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for POLR3B gene (2 alternative transcripts): 
    NM_001160708.1  NM_018082.5  

    Unigene Clusters for POLR3B:

    Polymerase (RNA) III (DNA directed) polypeptide B
    Hs.62696  [show with all ESTs], Hs.610795  [show with all ESTs]
    Unigene Representative Sequences: NM_018082, BC033542
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000228347(uc001tlp.3) ENST00000539066(uc001tlq.3) ENST00000549569
    ENST00000549195
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate POLR3B:
    hsa-miR-4273
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    Additional mRNA sequence: BC033542.1 

    7 DOTS entries:

    DT.406080  DT.100778661  DT.99944362  DT.101973149  DT.97762598  DT.121150665  DT.92407267 

    24/104 AceView cDNA sequences (see all 104):

    AK092031 AU123324 AX746551 BM788368 AW196487 AK001250 BC046238 BU155606 
    AK122713 NM_018082 BE263182 BX648712 AI755102 AK090636 CR595354 AX747324 
    BC017501 BX537447 AY092084 BG823714 BI871505 BG758768 CB158998 CB127926 

    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

    POLR3B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAAATTTA
    POLR3B Expression
    About this image


    See POLR3B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POLR3B

    SOURCE GeneReport for Unigene clusters: Hs.62696 Hs.610795
        SABiosciences Custom PCR Arrays for POLR3B
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POLR3B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLR3B

    (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 POLR3B gene from 10/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Polr3b1 , 5 polymerase (RNA) III (DNA directed) polypeptide B1, 5 89.47(n)1
    99.38(a)1
      10 (41.58 cM)5
    704281  NM_027423.11  NP_081699.11 
     846224375 
    chicken
    (Gallus gallus)
    Aves POLR3B1 polymerase (RNA) III (DNA directed) polypeptide B 83.63(n)
    97.08(a)
      418071  XM_416307.3  XP_416307.3 
    lizard
    (Anolis carolinensis)
    Reptilia POLR3B6
    DNA-directed RNA polymerase
    97(a)
    1 ↔ 1
    5(19168211-19229906)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.37622 Transcribed sequence with weak similarity to protein more 80.24(n)    BX743116.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570518882   -- 77.98(n)    57051888 
    fruit fly
    (Drosophila melanogaster)
    Insecta RpIII1281 RNA polymerase III 128kD subunit 63.73(n)
    69.49(a)
      36289  NM_078982.2  NP_523706.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F09F7.31 Protein F09F7.3 61.33(n)
    64.81(a)
      175767  NM_065791.6  NP_498192.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RET1(YOR207C)4
    RET11
    Second-largest subunit of RNA polymerase III, which more4
    Ret1p1
    61.39(n)1
    63.92(a)1
      15(733457-730008)4
    8543821, 4  NP_014850.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NRPC21 DNA-directed RNA polymerase III subunit C2 58.53(n)
    58.41(a)
      834550  NM_123882.4  NP_199327.4 
    rice
    (Oryza sativa)
    Liliopsida Os.232032 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.59(n)    AK073203.1 


    ENSEMBL Gene Tree for POLR3B (if available)
    TreeFam Gene Tree for POLR3B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for POLR3B gene
    POLR2B2  
    2 SIMAP similar genes for POLR3B using alignment to 2 protein entries:     RPC2_HUMAN (see all proteins):
    DKFZp686D10173    POLR2B

    POLR3B for paralogs           About GeneDecksing



    (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) 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

    10/2951 SNPs in POLR3B are shown (see all 2951)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0670094
    Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8)4--see VAR_0670092 D E mis40--------
    VAR_0670064
    Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8)4--see VAR_0670062 V E mis40--------
    VAR_0670054
    Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8)4--see VAR_0670052 T K mis40--------
    VAR_0670084
    Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8)4--see VAR_0670082 R H mis40--------
    rs1382491611,2
    C,Fpathogenic1106667136(+) AGATGT/AGAATT 4 /E /V mis11Minor allele frequency- A:0.00NA 4550
    rs113417601,2
    C--103823000(+) GAGCG-/T/TT  
            
    TTTTT
    2 -- int1 trp31CSA 2
    rs1384352841,2
    C--103823001(+) TTTTT-/TTGTTTG 2 -- int10--------
    rs118293641,2
    C,F,A,H--103826447(+) tttttG/Tttttt 2 -- int1 trp34Minor allele frequency- T:0.43NA CSA 7
    rs1132446931,2
    F--103859657(+) ACACAC/TACACA 2 -- int12Minor allele frequency- T:0.50CSA 4
    rs607880921,2
    C--103880328(+) GCAAT-/G/GTGT
    G
    /TGTG/TT
    TTGTG
    2 -- int10--------

    HapMap Linkage Disequilibrium report for POLR3B (106751436 - 106903976 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for POLR3B:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv270867CNV Insertion20981092
    nsv507670CNV Insertion20534489
    nsv832510CNV Loss17160897


    Human Gene Mutation Database (HGMD): POLR3B
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing POLR3B
    DNA2.0 Custom Variant and Variant Library Synthesis for POLR3B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614366    OMIM disorders: --

    UniProtKB/Swiss-Prot: RPC2_HUMAN, Q9NW08
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
    (HLD8) [MIM:614381]: An autosomal recessive neurodegenerative disorder characterized by early childhood onset of
    cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain
    MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 12 diseases for POLR3B:    About MalaCards
    pol iii-related leukodystrophies    leukodystrophy    histoplasmosis    esotropia
    hypogonadotropism    klinefelter's syndrome    hypogonadism    cerebellar ataxia
    intellectual disability    ataxia    pneumonia    tuberculosis

    1 disease from the University of Copenhagen DISEASES database for POLR3B:
    Histoplasmosis

    POLR3B for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): POLR3B
    Human Genome Epidemiology (HuGE) Navigator: POLR3B (1 document)

    Export disorders for POLR3B 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 POLR3B gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with POLR3B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits. (PubMed id 12391170)1, 2, 3 Hu P....Hernandez N. (2002)
    2. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. (PubMed id 22036171)1, 2 Saitsu H.... Matsumoto N. (2011)
    3. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. (PubMed id 22036172)1, 2 Tetreault M....Bernard G. (2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA polymerase III-transcribed RNA intermediate. (PubMed id 19609254)1, 2 Ablasser A....Hornung V. (2009)
    6. RNA polymerase III detects cytosolic DNA and induces type I interferons through the RIG-I pathway. (PubMed id 19631370)1, 2 Chiu Y.-H.... Chen Z.J. (2009)
    7. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PubMed id 17903297)1, 4 Seshadri S....Wolf P.A. (2007)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. INMAP, a novel truncated version of POLR3B, represses AP-1 and p53 transcriptional activity. (PubMed id 23124897)1 Yunlei Z....Qianjin L. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
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      (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: 55703 HGNC: 30348 AceView: POLR3B Ensembl:ENSG00000013503 euGenes: HUgn55703
    ECgene: POLR3B Kegg: 55703 H-InvDB: POLR3B

    (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 POLR3B 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 POLR3B gene:
    Search GeneIP for patents involving POLR3B

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



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    About This Section

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