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POLB Gene

protein-coding   GIFtS: 71
GCID: GC08P042195

Polymerase (DNA Directed), Beta

  See POLB-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Polymerase (DNA Directed), Beta1 2     Mutant DNA Polymerase Beta2
DNA Pol Beta2     EC 2.7.7.73
DNA Polymerase Beta2     EC 4.2.99.-3
DNA Polymerase Beta Subunit2     

External Ids:    HGNC: 91741   Entrez Gene: 54232   Ensembl: ENSG000000705017   OMIM: 1747605   UniProtKB: P067463   

Export aliases for POLB gene to outside databases

Previous GC identifers: GC08M041722 GC08P042220 GC08P041936 GC08P042213 GC08P042315 GC08P040719


(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 POLB Gene:
The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling
DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates
to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of
only one has been described to date. (provided by RefSeq, Sep 2011)

GeneCards Summary for POLB Gene:
POLB (polymerase (DNA directed), beta) is a protein-coding gene. Diseases associated with POLB include werner syndrome. GO annotations related to this gene include damaged DNA binding and enzyme binding. An important paralog of this gene is DNTT.

UniProtKB/Swiss-Prot: DPOLB_HUMAN, P06746
Function: Repair polymerase that plays a key role in base-excision repair. Has 5'-deoxyribose-5-phosphate lyase
(dRP lyase) activity that removes the 5' sugar phosphate and also acts as a DNA polymerase that adds one
nucleotide to the 3' end of the arising single-nucleotide gap. Conducts 'gap-filling' DNA synthesis in a stepwise
distributive fashion rather than in a processive fashion as for other DNA polymerases

Gene Wiki entry for POLB (DNA polymerase beta) 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_000008.10  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the POLB gene promoter:
         USF1   USF2   USF-1:USF-2   HNF-4alpha2   HNF-4alpha1   CREB   Egr-2   Nkx6-1   deltaCREB   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): POLB promoter sequence
   Search Chromatin IP Primers for POLB

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


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

Entrez Gene cytogenetic band: 8p11.2   Ensembl cytogenetic band:  8p11.21   HGNC cytogenetic band: 8p12-p11

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P042195:  view genomic region     (about GC identifiers)

Start:
42,195,972 bp from pter      End:
42,229,326 bp from pter
Size:
33,355 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: DPOLB_HUMAN, P06746 (See protein sequence)
Recommended Name: DNA polymerase beta  
Size: 335 amino acids; 38178 Da
Cofactor: Binds 2 magnesium ions per subunit (By similarity)
Subunit: Monomer. Interacts with APEX1, HUWE1/ARF-BP1, STUB1/CHIP and USP47
Selected PDB 3D structures from and Proteopedia for POLB (see all 174):
1BPX (3D)        1BPY (3D)        1BPZ (3D)        1MQ2 (3D)        1MQ3 (3D)        1TV9 (3D)    
Secondary accessions: B2RC78 Q3KP48 Q6FI34

Explore the universe of human proteins at neXtProt for POLB: NX_P06746

Explore proteomics data for POLB at MOPED

Post-translational modifications: 

  • Methylation by PRMT6 stimulates the polymerase activity by enhancing DNA binding and processivity1
  • Ubiquitinated at Lys-41, Lys-61 and Lys-81: monoubiquitinated by HUWE1/ARF-BP1. Monoubiquitinated protein is then
    the target of STUB1/CHIP, which catalyzes polyubiquitination from monoubiquitin, leading to degradation by the
    proteasome. USP47 mediates the deubiquitination of monoubiquitinated protein, preventing polyubiquitination by
    STUB1/CHIP and its subsequent degradation1
  • Ubiquitination2 at Lys41, Lys61, Lys81
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_002681.1  
    ENSEMBL proteins: 
     ENSP00000432084   ENSP00000265421   ENSP00000430610   ENSP00000430784   ENSP00000429436  
     ENSP00000427799   ENSP00000428578   ENSP00000429597   ENSP00000430478   ENSP00000428144  
     ENSP00000430831   ENSP00000440497  
    Reactome Protein details: P06746

    POLB Human Recombinant Protein Products:

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    OriGene Custom MassSpec
    OriGene Custom Protein Services for POLB
    GenScript Custom Purified and Recombinant Proteins Services for POLB
    Novus Biologicals POLB Proteins
    Novus Biologicals POLB Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for POLB
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for POLB 

    POLB Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
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    Abcam antibodies for POLB
    Browse Antibodies at Cloud-Clone Corp.
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    LSBio Antibodies in human, mouse, rat for POLB

    POLB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    R&D Systems DNA Damage/Repair Kits & Reagents for POLB (DNA Polymerase beta)
    GenScript Custom Assay Services for POLB
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for POLB 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    POL: DNA polymerases

    Selected InterPro protein domains (see all 9):
     IPR010996 DNA_pol_b-like_N
     IPR003583 Hlx-hairpin-Hlx_DNA-bd_motif
     IPR028207 DNA_pol_B_palm_palm
     IPR027420 PolB_N
     IPR002008 DNA_pol_X_beta-like

    Graphical View of Domain Structure for InterPro Entry P06746

    ProtoNet protein and cluster: P06746

    2 Blocks protein domains:
    IPB002008 DNA-polymerase family X pol beta-like signature
    IPB003583 Helix-hairpin-helix DNA-binding


    UniProtKB/Swiss-Prot: DPOLB_HUMAN, P06746
    Domain: Residues 239-252 form a flexible loop which appears to affect the polymerase fidelity (By similarity)
    Similarity: Belongs to the DNA polymerase type-X family


    Find genes that share domains with POLB           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: DPOLB_HUMAN, P06746
    Function: Repair polymerase that plays a key role in base-excision repair. Has 5'-deoxyribose-5-phosphate lyase
    (dRP lyase) activity that removes the 5' sugar phosphate and also acts as a DNA polymerase that adds one
    nucleotide to the 3' end of the arising single-nucleotide gap. Conducts 'gap-filling' DNA synthesis in a stepwise
    distributive fashion rather than in a processive fashion as for other DNA polymerases
    Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

         Genatlas biochemistry entry for POLB:
    polymerase (DNA directed),beta,39kDa,highly expressed (rat) in testis may be involved in DNA repair and in
    meiosis,not involved in DNA replication

         Enzyme Numbers (IUBMB): EC 4.2.99.-1 EC 2.7.7.71

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003684damaged DNA binding IEA--
    GO:0003824catalytic activity ----
    GO:0003887DNA-directed DNA polymerase activity IDA16600869
    GO:0005515protein binding IPI15520167
         
    Find genes that share ontologies with POLB           About GenesLikeMe


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

         13 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Polb):
     behavior/neurological  cellular  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     nervous system  renal/urinary system  respiratory system 

    Find genes that share phenotypes with POLB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for POLB: Polbtm1Koy Polbtm1.1Rsky

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POLB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for POLB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POLB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POLB

    miRNA
    Products:
        
    miRTarBase miRNAs that target POLB:
    hsa-mir-1301-3p (MIRT035975), hsa-mir-16-5p (MIRT051150)

    Block miRNA regulation of human, mouse, rat POLB using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate POLB:
    hsa-miR-3667-5p hsa-miR-548p hsa-miR-499-5p hsa-miR-3185
    SwitchGear 3'UTR luciferase reporter plasmidPOLB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for POLB
    Predesigned siRNA for gene silencing in human, mouse, rat POLB

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for POLB

    Clone
    Products:
         
    OriGene clones in human, mouse for POLB (see all 8)
    OriGene ORF clones in mouse, rat for POLB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: POLB (NM_002690)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLB
    Addgene plasmids for POLB 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for POLB
    Browse ESI BIO Cell Lines and PureStem Progenitors for POLB 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLB


    (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
    DPOLB_HUMAN, P06746: Nucleus. Cytoplasm. Note=Cytoplasmic in normal conditions. Translocates to the nucleus
    following DNA damage
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol3
    plasma membrane2
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19713937
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA15725623
    GO:0005874microtubule IDA15725623
    GO:0005876spindle microtubule IDA15725623

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

    SuperPathContained pathways About
    1Resolution of Abasic Sites (AP sites)
    Resolution of Abasic Sites (AP sites)0.89
    Base Excision Repair0.00
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway0.89
    Base-free sugar-phosphate removal via the single-nucleotide replacement pathway0.00
    Base excision repair0.53
    Removal of DNA patch containing abasic residue0.00
    Resolution of AP sites via the single-nucleotide replacement pathway0.00
    2DNA Repair
    DNA Repair0.45
    3Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    4Viral carcinogenesis
    Viral carcinogenesis
    5Nucleotide Metabolism
    Nucleotide Metabolism


    Find genes that share SuperPaths with POLB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLB
        DNA Repair Mechanisms
    Cell Cycle Control of Chromosomal Replication

    1 GeneGo (Thomson Reuters) Pathway for POLB
        DNA damage Role of Brca1 and Brca2 in DNA repair

    1 BioSystems Pathway for POLB
        Nucleotide Metabolism

    3 Reactome Pathways for POLB
        Removal of DNA patch containing abasic residue
    Base-free sugar-phosphate removal via the single-nucleotide replacement pathway
    Resolution of AP sites via the single-nucleotide replacement pathway


    3 Kegg Pathways  (Kegg details for POLB):
        Base excision repair
    HTLV-I infection
    Viral carcinogenesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including POLB: 
              Cancer PathwayFinder in human mouse rat
              DNA Repair in human mouse rat
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for POLB

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

    Selected Interacting proteins for POLB (P067461, 2, 3 ENSP000002654214) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TAF1DQ9H5J81, 3, ENSP000003149714EBI-713836,EBI-716128 I2D: score=3 STRING: ENSP00000314971
    KAT7O952512, 3MINT-63414 I2D: score=5 
    TLE1Q047242, 3MINT-63415 I2D: score=4 
    PCNAP120043, ENSP000003684384I2D: score=5 STRING: ENSP00000368438
    APEX1P276953, ENSP000002167144I2D: score=2 STRING: ENSP00000216714
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006261DNA-dependent DNA replication TAS8168825
    GO:0006281DNA repair TAS--
    GO:0006284base-excision repair TAS--
    GO:0006287base-excision repair, gap-filling IEA--
    GO:0006290pyrimidine dimer repair IEA--

    Find genes that share ontologies with POLB           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
       Enzo Life Sciences drugs & compounds for POLB
      Browse compounds at ApexBio 

    Browse Tocris compounds for POLB (DPOLB)

    7 HMDB Compounds for POLB    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Thymidine 5'-triphosphate2'-Deoxythymidine 5'-triphosphate (see all 13)365-08-2--
    dATP2'-Deoxy-5'-ATP (see all 8)1927-31-7--
    dCTP2'-deoxycytidine-5'-triphosphate (see all 4)2056-98-6--
    dGTP2'-Deoxyguanosine 5'-triphosphate (see all 4)2564-35-4--

    3 DrugBank Compounds for POLB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2'-Deoxyadenosine 5'-Triphosphate-- 1927-31-7target--17139284 17016423 10592235
    CytarabineAra-C (see all 26)147-94-4targetinhibitor19372559 16866189 15011952
    (1S)-1,2,3,4-TETRAHYDRO-BENZO[C]PHENANTHRENE-2,3,4-TRIOL-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for POLB gene (see all 72)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dideoxythymidine 82.2 6 9057979 (2), 1905189 (1), 8376804 (1), 2117783 (1) (see all 5)
    parathion 79.9 21 18717589 (2), 11123928 (2), 8647805 (2), 12196536 (2) (see all 14)
    ddttp 76.7 6 7918688 (1), 1657184 (1), 16283517 (1), 1315927 (1)
    dctp 74.1 11 17293403 (2), 1384425 (1), 8702991 (1), 17321545 (1) (see all 8)
    2-deoxyribonolactone 74 8 16793362 (2), 11805079 (2), 20077202 (1), 16199212 (1)
    aphidicolin 72.8 9 7918688 (1), 1657184 (1), 9057979 (1), 1905189 (1) (see all 8)
    triphosphate 72.1 6 11123928 (2), 7516580 (1), 16043633 (1), 11376566 (1) (see all 5)
    aphidicolin glycinate 72 2 8674158 (1)
    deoxynucleoside triphosphate 71.9 3 10200168 (1), 11756435 (1)
    8-oxoguanine 71.5 7 12517331 (2), 16054643 (2), 16051529 (1), 17293403 (1)



    Find genes that share compounds with POLB           About GenesLikeMe



    (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 POLB gene: 
    NM_002690.2  

    Unigene Cluster for POLB:

    Polymerase (DNA directed), beta
    Hs.654484  [show with all ESTs]
    Unigene Representative Sequence: CR627365
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532157 ENST00000265421(uc003xoz.2 uc011lcs.2) ENST00000520008
    ENST00000518925 ENST00000519094 ENST00000530566 ENST00000522297 ENST00000522610
    ENST00000519771 ENST00000524208 ENST00000521290 ENST00000519524 ENST00000518579
    ENST00000523465 ENST00000517393 ENST00000521492 ENST00000521418 ENST00000538005

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate POLB:
    hsa-miR-3667-5p hsa-miR-548p hsa-miR-499-5p hsa-miR-3185
    SwitchGear 3'UTR luciferase reporter plasmidPOLB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat POLB
    Clone
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    OriGene ORF clones in mouse, rat for POLB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: POLB (NM_002690)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLB
    Addgene plasmids for POLB 
    Primer
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    OriGene qPCR primer pairs and template standards for POLB
    OriGene qSTAR qPCR primer pairs in human, mouse for POLB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POLB
      QuantiTect SYBR Green Assays in human, mouse, rat POLB
      QuantiFast Probe-based Assays in human, mouse, rat POLB

    Additional mRNA sequence: 

    AK223537.1 AK294025.1 AK314976.1 BC100288.1 BC106909.1 CR536503.1 CR541802.1 CR627365.1 
    D29013.1 JQ664683.1 JQ927442.1 L11607.1 M13140.1 

    17 DOTS entries:

    DT.95091040  DT.101960721  DT.121466683  DT.100794886  DT.95091024  DT.92054355  DT.87015228  DT.121466677 
    DT.97800015  DT.40276214  DT.87015231  DT.100794885  DT.121466675  DT.40314170  DT.121016792  DT.85100102 
    DT.91975491 

    Selected AceView cDNA sequences (see all 198):

    BQ186692 BQ053443 AI670950 CB144384 BP347878 BQ434342 CB139224 BG743462 
    BP369116 BM678092 AI652201 AA421330 BP370385 AI128173 BM931013 CR624336 
    CB130159 BP370570 BM979958 AI087793 BM790436 AA172228 AW951548 BF507649 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POLB (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15
    SP1:                                -                 -                 -                                   -                     
    SP2:                                -                 -                                                                           
    SP3:                          -     -                 -                 -                                                         
    SP4:                          -     -                 -                                                                           
    SP5:                                -                                                                                             


    ECgene alternative splicing isoforms for POLB

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


    POLB 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
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    POLB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654484
        Pathway & Disease-focused RT2 Profiler PCR Arrays including POLB: 
              Cancer PathwayFinder in human mouse rat
              DNA Repair in human mouse rat
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for POLB gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Polb1 , 5 polymerase (DNA directed), beta1, 5 89.15(n)1
    96.42(a)1
      8 (11.42 cM)5
    189701  NM_011130.21  NP_035260.11 
     226281195 
    chicken
    (Gallus gallus)
    Aves POLB1 polymerase (DNA directed), beta 79.6(n)
    86.57(a)
      426794  XM_424407.4  XP_424407.2 
    lizard
    (Anolis carolinensis)
    Reptilia POLB6
    polymerase (DNA directed), beta
    88(a)
    1 ↔ 1
    GL343608.1(213735-225685)
    African clawed frog
    (Xenopus laevis)
    Amphibia polB2 DNA polymerase beta 76.58(n)    Y15732.1 
    zebrafish
    (Danio rerio)
    Actinopterygii polb1 polymerase (DNA directed), beta 73.73(n)
    80.3(a)
      554204  NM_001003879.1  NP_001003879.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POLB gene
    DNTT2  POLM2  POLL2  
    2 SIMAP similar genes for POLB using alignment to 12 protein entries:     DPOLB_HUMAN (see all proteins):
    DNA pol beta    POLL

    Find genes that share paralogs with POLB           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for POLB
    PGOHUM00000249579


    (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 POLB (see all 739)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs794283311,2
    F--42194058(+) GAAGCC/TAATTG 1 -- us2k11Minor allele frequency- T:0.05WA 118
    rs1456067611,2
    --42194739(+) AGTTGC/GAGGCA 1 -- us2k10--------
    rs724227661,2
    C--42194927(+) AAAAA-/AAGAAGAA 2 -- us2k1 cds10--------
    rs2009036321,2
    C--42194929(+) AAAAAA/GAAGAA 1 -- us2k10--------
    rs2018819891,2
    --42194933(+) AGAAG-/AATTACAG 1 -- us2k10--------
    rs1394449761,2
    --42194984(+) GTAAGA/GAAACA 1 -- us2k10--------
    rs1909796341,2
    --42195130(+) CTGATA/TTTAAT 1 -- us2k10--------
    rs31367111,2
    C,F,H--42195466(+) GACACT/CGGTTG 1 -- us2k117Minor allele frequency- C:0.03NS EA NA 1776
    rs1441577181,2
    --42195630(+) TCTAAC/TCACGT 1 -- us2k10--------
    rs1158302941,2
    C,F--42195720(+) AGAATC/TAAGAT 1 -- us2k11Minor allele frequency- T:0.02WA 118

    HapMap Linkage Disequilibrium report for POLB (42195972 - 42229326 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for POLB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661547CNV Deletion23128226
    nsv397871CNV Insertion16902084
    nsv831301CNV Loss17160897
    nsv6169CNV Loss18451855
    nsv508508CNV Loss20534489

    Human Gene Mutation Database (HGMD): POLB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POLB
    DNA2.0 Custom Variant and Variant Library Synthesis for POLB

    (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.)
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    OMIM gene information: 174760    OMIM disorders: --

    1 disease for POLB:    
    About MalaCards
    werner syndrome


    Find genes that share disorders with POLB           About GenesLikeMe

    Selected Novoseek inferred disease relationships for POLB gene (see all 25)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloblastosis 58.6 3 1371865 (1), 7687565 (1), 20104909 (1)
    werner syndrome 52.4 2 8168825 (1), 16449207 (1)
    immunodeficiency 31 17 15701045 (2), 8702991 (1), 9367179 (1), 7516580 (1) (see all 16)
    familial adenomatous polyposis 17.2 2 17999539 (1), 17176113 (1)
    cancer 16.5 12 15280658 (2), 11593426 (2), 15963946 (1), 16722994 (1) (see all 10)
    tumors 9.67 27 15280658 (2), 11593426 (2), 9078303 (1), 10357787 (1) (see all 25)
    aids 2.74 2 7516580 (1), 1932601 (1)
    leukemia 0 1 15701045 (1)
    microsatellite instability 0 1 12414629 (1)
    rhabdomyosarcoma 0 2 8012971 (1), 8674158 (1)

    Genetic Association Database (GAD): POLB
    Human Genome Epidemiology (HuGE) Navigator: POLB (35 documents)

    Export disorders for POLB 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 POLB gene, integrated from 10 sources (see all 450):
    (articles sorted by number of sources associating them with POLB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Covalent trapping of human DNA polymerase beta by the oxidative DNA lesion 2-deoxyribonolactone. (PubMed id 11805079)1, 2, 9 DeMott M.S.... Demple B. (J. Biol. Chem. 2002)
    2. Characterization of DNA polymerase beta splicing variants in gastric cancer: the most frequent exon 2-deleted isoform is a non-coding RNA. (PubMed id 19635489)1, 4, 9 Simonelli V....Dogliotti E. (Mutat. Res. 2009)
    3. Population-specific variation in haplotype composition and heterozygosity at the POLB locus. (PubMed id 19167932)1, 4, 9 Yamtich J....Kidd K.K. (DNA Repair (Amst.) 2009)
    4. Polymorphisms of DNA repair genes and risk of non-small cell lung cancer. (PubMed id 16195237)1, 4, 9 Zienolddiny S....Haugen A. (Carcinogenesis 2006)
    5. Interaction of human apurinic endonuclease and DNA polymerase beta in the base excision repair pathway. (PubMed id 9207062)1, 2, 9 Bennett R.A.... Demple B. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    6. A structural basis for metal ion mutagenicity and nucleotide selectivity in human DNA polymerase beta. (PubMed id 8841119)1, 2, 9 Pelletier H.... Kraut J. (Biochemistry 1996)
    7. USP47 is a deubiquitylating enzyme that regulates base excision repair by controlling steady-state levels of DNA Polymerase beta. (PubMed id 21362556)1, 2 Parsons J.L.... Dianov G.L. (Mol. Cell 2011)
    8. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)
    9. DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma. (PubMed id 20150366)1, 4 Rajaraman P....Inskip P.D. (Neuro-oncology 2010)
    10. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5423 HGNC: 9174 AceView: POLB Ensembl:ENSG00000070501 euGenes: HUgn5423
    ECgene: POLB Kegg: 5423 H-InvDB: POLB

    (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 POLB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for POLB Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/polb/

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

    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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