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POLR3B Gene

protein-coding   GIFtS: 63
GCID: GC12P106751

Polymerase (RNA) III (DNA Directed) Polypeptide B

  See POLR3B-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)
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Aliases
Polymerase (RNA) III (DNA Directed) Polypeptide B1 2     EC 2.7.7.63 8
C1282 3 5     HLD82 5
DNA-Directed RNA Polymerase III 127.6 KDa Polypeptide2 3     RPC22 5
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include ribonucleoside binding and RNA polymerase III activity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   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 Chromatin IP Primers for POLR3B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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)
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: 

  • Ubiquitination2 at Lys157, Lys324, Lys691, Lys950
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for POLR3B (Q9NW08) (see all 17)
     GDKFSSR  GEMERDC  KLLFQEL  AMGKQAMG 


    See POLR3B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000228347   ENSP00000445721   ENSP00000448398  
    Reactome Protein details: Q9NW08

    POLR3B Human Recombinant Protein Products:

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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 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


    Find genes that share domains with POLR3B           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: 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:    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--
         
    Find genes that share ontologies with POLR3B           About GenesLikeMe


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POLR3B
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    miRNA
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    miRTarBase miRNAs that target POLR3B:
    hsa-let-7b-5p (MIRT032193), hsa-mir-21-5p (MIRT030785)

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    1 qRT-PCR Assays for microRNA that regulate POLR3B:
    hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidPOLR3B 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
    RPC2_HUMAN, Q9NW08: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    plasma membrane2
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with POLR3B           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 POLR3B About   (see all 8)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation0.88
    RNA Polymerase III Transcription Initiation From Type 2 Promoter0.74
    RNA Polymerase III Abortive And Retractive Initiation0.88
    RNA Polymerase III Transcription Termination0.58
    RNA Polymerase III Transcription0.88
    RNA polymerase0.45
    RNA Polymerase III Transcription Initiation From Type 3 Promoter0.80
    RNA Polymerase III Chain Elongation0.00
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    Pyrimidine metabolism0.38
    3Cytosolic sensors of pathogen-associated DNA
    Cytosolic sensors of pathogen-associated DNA0.38
    Cytosolic DNA-sensing pathway0.33
    4RNA Polymerase I Promoter Opening
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73
    5Formation of RNA Pol II elongation complex
    Eukaryotic Transcription Initiation0.59


    Find genes that share SuperPaths with POLR3B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLR3B
        Transcription of tRNA
    Assembly of RNA Polymerase-III Initiation Complex

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

    1 BioSystems Pathway for POLR3B
        Eukaryotic Transcription Initiation

    Selected Reactome Pathways for POLR3B (see all 7)
        RNA Polymerase III Transcription Initiation From Type 3 Promoter
    RNA Polymerase III Transcription Initiation From Type 1 Promoter
    Cytosolic sensors of pathogen-associated DNA
    RNA Polymerase III Chain Elongation
    RNA Polymerase III Transcription Termination


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POLR3B
    Interactions:

        Search GeneGlobe Interaction Network for POLR3B

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

    Selected Interacting proteins for POLR3B (Q9NW083 ENSP000002283474) via UniProtKB, MINT, STRING, and/or I2D (see all 361)
    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): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated ----
    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--

    Find genes that share ontologies with POLR3B           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 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--



    (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 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
    miRNA
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    hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidPOLR3B 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat POLR3B
      QuantiFast Probe-based Assays in human, mouse, rat POLR3B

    Additional mRNA sequence: BC033542.1 

    7 DOTS entries:

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

    Selected AceView cDNA sequences (see all 104):

    AK122713 BM788368 BX537447 AK092031 AU123324 BU155606 AW196487 AI755102 
    AK001250 AX746551 BX648712 BC046238 AX747324 AY092084 NM_018082 AK090636 
    CR595354 BE263182 BC017501 BG875950 CB962473 CB127926 N75936 BM702936 

    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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    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

    POLR3B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLR3B Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.62696 Hs.610795
        Custom PCR Arrays for POLR3B
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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for POLR3B gene from Selected 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_416307.4  XP_416307.3 
    lizard
    (Anolis carolinensis)
    Reptilia POLR3B6
    polymerase (RNA) III (DNA directed) polypeptide B
    96(a)
    1 ↔ 1
    5(19168211-19229906)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.37622 Transcribed sequence with weak similarity to protein pirS28976 (H.sapiens) S28976 DNA-directed RNA polymerase (EC 2.7.7.6) II largest chain - human less 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 F09F7.3 61.33(n)
    64.81(a)
      175767  NM_065791.7  NP_498192.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RET1(YOR207C)4
    RET11
    Second-largest subunit of RNA polymerase III, which is responsible for the transcription of tRNA and 5S RNA genes, and other low molecular weight RNAs less4
    RET11
    61.42(n)1
    63.92(a)1
      15(733457-730008)4
    8543821, 4  NP_014850.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NRPC21 NRPC2 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 cloneJ033021H21, full insert sequence less 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)
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    Paralogs for POLR3B gene
    POLR2B2  POLR1B2  
    2 SIMAP similar genes for POLR3B using alignment to 2 protein entries:     RPC2_HUMAN (see all proteins):
    DKFZp686D10173    POLR2B

    Find genes that share paralogs with POLR3B           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 POLR3B (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614366   
    OMIM disorders: 614381  
    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

  • 3 diseases for POLR3B:    
    About MalaCards
    pol iii-related leukodystrophies    leukodystrophy    histoplasmosis

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

    Find genes that share disorders with POLR3B           About GenesLikeMe

    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)
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    PubMed articles for POLR3B gene, integrated from 10 sources (see all 29):
    (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. (Mol. Cell. Biol. 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. (Am. J. Hum. Genet. 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. (Am. J. Hum. Genet. 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. (Mol. Med. 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. (Nat. Immunol. 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. (Cell 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. (BMC Med. Genet. 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. (Genome Res. 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 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: 55703 HGNC: 30348 AceView: POLR3B Ensembl:ENSG00000013503 euGenes: HUgn55703
    ECgene: POLR3B Kegg: 55703 H-InvDB: POLR3B

    (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)
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    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.)
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    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



    (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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