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POLA2 Gene

protein-coding   GIFtS: 61
GCID: GC11P065029

Polymerase (DNA Directed), Alpha 2, Accessory Subunit

(Previous names: polymerase (DNA directed), alpha 2 (70kD subunit))
  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)
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Aliases
Polymerase (DNA Directed), Alpha 2, Accessory Subunit1 2
DNA Polymerase Alpha 70 KDa Subunit1 2 3
Polymerase (DNA Directed), Alpha 2 (70kD Subunit)1 2
DNA Polymerase Alpha Subunit B1 2
Polymerase (DNA-Directed), Alpha (70kD)2

External Ids:    HGNC: 300731   Entrez Gene: 236492   Ensembl: ENSG000000141387   UniProtKB: Q141813   

Export aliases for POLA2 gene to outside databases

Previous GC identifers: GC11P067545 GC11P066711 GC11P065279 GC11P064804 GC11P064786 GC11P061356


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for POLA2 Gene:
POLA2 (polymerase (DNA directed), alpha 2, accessory subunit) is a protein-coding gene. Diseases associated with POLA2 include malaria, and cerebritis. GO annotations related to this gene include DNA-directed DNA polymerase activity and protein heterodimerization activity.

UniProtKB/Swiss-Prot: DPOA2_HUMAN, Q14181
Function: May play an essential role at the early stage of chromosomal DNA replication by coupling the polymerase
alpha/primase complex to the cellular replication machinery (By similarity)

Gene Wiki entry for POLA2 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:
NC_000011.10  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the POLA2 gene promoter:
         Max1   NF-1   NF-1/L   AML1a   MyoD   Meis-1b   E47   SEF-1 (1)   Meis-1a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLA2 promoter sequence
   Search Chromatin IP Primers for POLA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POLA2


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

Entrez Gene cytogenetic band: 11q13.1   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

POLA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLA2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P065029:  view genomic region     (about GC identifiers)

Start:
65,029,233 bp from pter      End:
65,073,060 bp from pter
Size:
43,828 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DPOA2_HUMAN, Q14181 (See protein sequence)
Recommended Name: DNA polymerase alpha subunit B  
Size: 598 amino acids; 65948 Da
Subunit: DNA polymerase alpha:primase is a four subunit enzyme complex, which is assembled throughout the cell
cycle, and consists of the two DNA polymerase subunits A and B, and the DNA primase large and small subunits.
Subunit B binds to subunit A
2 PDB 3D structures from and Proteopedia for POLA2:
2KEB (3D)        4E2I (3D)    
Secondary accessions: Q9BPV3

Explore the universe of human proteins at neXtProt for POLA2: NX_Q14181

Explore proteomics data for POLA2 at MOPED

Post-translational modifications: 

  • Phosphorylated in a cell cycle-dependent manner, in G2/M phase1
  • Ubiquitination2 at Lys72, Lys160, Lys194, Lys207, Lys212, Lys292, Lys500, Lys564
  • Modification sites at PhosphoSitePlus

  • See POLA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002680.2  
    ENSEMBL proteins: 
     ENSP00000265465   ENSP00000432536   ENSP00000433952   ENSP00000434173   ENSP00000443222  
    Reactome Protein details: Q14181

    POLA2 Human Recombinant Protein Products:

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    Novus Biologicals POLA2 Protein
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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

    3 InterPro protein domains:
     IPR013627 Pol_alpha_B_N
     IPR007185 DNA_pol_alpha/epsilon_bsu
     IPR016722 DNA_pol_alpha_bsu

    Graphical View of Domain Structure for InterPro Entry Q14181

    ProtoNet protein and cluster: Q14181

    1 Blocks protein domain: IPB013627 DNA polymerase alpha

    UniProtKB/Swiss-Prot: DPOA2_HUMAN, Q14181
    Domain: The N-terminal 240 amino acids are sufficient to mediate complex formation
    Similarity: Belongs to the DNA polymerase alpha subunit B family


    POLA2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DPOA2_HUMAN, Q14181
    Function: May play an essential role at the early stage of chromosomal DNA replication by coupling the polymerase
    alpha/primase complex to the cellular replication machinery (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003677DNA binding IEA--
    GO:0003887DNA-directed DNA polymerase activity IEA--
    GO:0005515protein binding ----
    GO:0046982protein heterodimerization activity IBA--
         
    POLA2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for POLA2:
     Cell cycle / mitosis defect  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POLA2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POLA2

    miRNA
    Products:
        
    miRTarBase miRNAs that target POLA2:
    hsa-mir-215-5p (MIRT024956), hsa-mir-1 (MIRT001348), hsa-mir-192-5p (MIRT026640)

    Block miRNA regulation of human, mouse, rat POLA2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate POLA2:
    hsa-miR-515-5p hsa-miR-519e*
    SwitchGear 3'UTR luciferase reporter plasmidPOLA2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLA2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLA2


    (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
    DPOA2_HUMAN, Q14181: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    cytoskeleton1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005658alpha DNA polymerase:primase complex IBA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    POLA2 for ontologies           About GeneDecksing


    (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 POLA2 About   (see all 11)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Activation of the pre-replicative complex
    Activation of the pre-replicative complex0.66
    Cell cycle Start of DNA replication in early S phase0.53
    DNA Replication0.66
    2Telomere C-strand (Lagging Strand) Synthesis
    Telomere C-strand (Lagging Strand) Synthesis0.79
    Polymerase switching on the C-strand of the telomere0.00
    Extension of Telomeres0.79
    Removal of the Flap Intermediate0.00
    Leading Strand Synthesis0.64
    Lagging Strand Synthesis0.00
    Cell cycle Transition and termination of DNA replication0.43
    Polymerase switching0.00
    3E2F mediated regulation of DNA replication
    G1/S Transition0.81
    E2F mediated regulation of DNA replication0.30
    Mitotic G1-G1/S phases0.81
    Inhibition of replication initiation of damaged DNA by RB1/E2F10.00
    G1 to S cell cycle control0.35
    4DNA strand elongation
    DNA strand elongation0.63
    DNA replication0.63
    5CDK-mediated phosphorylation and removal of Cdc6
    Synthesis of DNA0.92
    DNA Replication Pre-Initiation0.81
    DNA Replication0.92
    S Phase0.78
    M/G1 Transition0.81

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 GeneGo (Thomson Reuters) Pathways for POLA2
        Transcription Ligand-dependent activation of the ESR1/SP pathway
    Cell cycle Transition and termination of DNA replication
    Cell cycle Start of DNA replication in early S phase

    2 BioSystems Pathways for POLA2
        G1 to S cell cycle control
    DNA Replication

    Selected Reactome Pathways for POLA2 (see all 9)
        Processive synthesis on the lagging strand
    Leading Strand Synthesis
    Removal of the Flap Intermediate
    Inhibition of replication initiation of damaged DNA by RB1/E2F1
    Telomere C-strand synthesis initiation


    4 Kegg Pathways  (Kegg details for POLA2):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    DNA replication


    POLA2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POLA2
    Interactions:

        Search GeneGlobe Interaction Network for POLA2

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

    Selected Interacting proteins for POLA2 (Q141812, 3 ENSP000002654654) via UniProtKB, MINT, STRING, and/or I2D (see all 175)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKTIPQ9H8T02, 3, ENSP000003002454MINT-64326 I2D: score=5 STRING: ENSP00000300245
    HDAC6Q9UBN72, 3, ENSP000003340614MINT-8258076 I2D: score=2 STRING: ENSP00000334061
    KCNE3Q9Y6H62, 3, ENSP000003105574MINT-8259106 I2D: score=2 STRING: ENSP00000310557
    ASCC2Q9H1I82, 3MINT-65476 I2D: score=5 
    ATP5C1P365422, 3MINT-63712 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000060protein import into nucleus, translocation IEA--
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--
    GO:0000723telomere maintenance TAS--

    POLA2 for ontologies           About GeneDecksing



    (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 POLA2 (DPOA2)

    1 DrugBank Compound for POLA2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DacarbazineBiocarbazine R (see all 9)4342-03-4targetother/unknown3098406 17139284 17016423



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for POLA2 gene: 
    NM_002689.2  

    Unigene Cluster for POLA2:

    Polymerase (DNA directed), alpha 2, accessory subunit
    Hs.201897  [show with all ESTs]
    Unigene Representative Sequence: NM_002689
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265465(uc001odj.3) ENST00000527850(uc010rod.1) ENST00000532469(uc009yqf.1)
    ENST00000532391 ENST00000527618(uc001odk.3) ENST00000525924 ENST00000533192
    ENST00000534785 ENST00000541089
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate POLA2:
    hsa-miR-515-5p hsa-miR-519e*
    SwitchGear 3'UTR luciferase reporter plasmidPOLA2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat POLA2
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    GenScript: all cDNA clones in your preferred vector: POLA2 (NM_002689)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POLA2
      QuantiTect SYBR Green Assays in human, mouse, rat POLA2
      QuantiFast Probe-based Assays in human, mouse, rat POLA2

    Additional mRNA sequence: 

    AK025315.1 AK094569.1 AK297842.1 AK307831.1 AK309284.1 BC001347.2 BC002990.1 BC018813.2 
    BC018814.2 CR456737.1 L24559.1 

    14 DOTS entries:

    DT.454903  DT.91675144  DT.91804763  DT.100784508  DT.101967173  DT.92445948  DT.120694607  DT.65287278 
    DT.86847417  DT.91687380  DT.100784509  DT.40131855  DT.40262983  DT.92414328 

    Selected AceView cDNA sequences (see all 352):

    CD516028 BX393023 AA806156 BP365450 BQ929232 T28918 BE885449 CB159434 
    CR614190 BM700641 BP363256 BQ447537 BM549128 BI333064 BX345864 AW250402 
    AI971790 BP364564 BM543270 AW449558 BP379233 AK025315 AU124433 BM458398 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POLA2 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c ^ 18a ·
    SP1:              -                                               -                                                           -                       -         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                          -           -           -         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 18b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for POLA2

    (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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    POLA2 expression in normal human tissues (normalized intensities)      POLA2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATCAAACAC
    POLA2 Expression
    About this image


    POLA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Kidney (Urinary System)
             Metanephros
    POLA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.201897
        Custom PCR Arrays for POLA2
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat POLA2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLA2

    (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 POLA2 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pola21 , 5 polymerase (DNA directed), alpha 21, 5 81.77(n)1
    83.28(a)1
      19 (4.34 cM)5
    189691  NM_008893.31  NP_032919.21 
     59405435 
    chicken
    (Gallus gallus)
    Aves LOC1008597591 DNA polymerase alpha subunit B-like 59.87(n)
    58.74(a)
      100859759  XM_003643426.2  XP_003643474.2 
    lizard
    (Anolis carolinensis)
    Reptilia POLA26
    polymerase (DNA directed), alpha 2, accessory subu...
    72(a)
    1 ↔ 1
    GL343994.1(138293-143216)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.45932 Xenopus laevis transcribed sequence with weak similarity more 76.91(n)    CA790264.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb48f052 wufb48f05 74.86(n)   322059  BC045928.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta DNApol-alpha731 DNA polymerase alpha 73kD 47.62(n)
    37.69(a)
      43278  NM_170327.4  NP_733206.3 
    worm
    (Caenorhabditis elegans)
    Secernentea div-16
    Protein DIV-1 (div-1) mRNA, complete cds
    23(a)
    1 ↔ 1
    III(10245049-10248905) WBGene00001002
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POL12(YBL035C)4 B subunit of DNA polymerase alpha-primase complex, more   --   2(153610-151493) 852245  NP_009518.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons POLA21 POLA2 50.25(n)
    41.74(a)
      843086  NM_105430.3  NP_176930.2 
    rice
    (Oryza sativa)
    Liliopsida Os12g02429001 Os12g0242900 48.98(n)
    41.1(a)
      4351872  NM_001073015.1  NP_001066483.1 


    ENSEMBL Gene Tree for POLA2 (if available)
    TreeFam Gene Tree for POLA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 POLA2 (see all 752)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1133719211,2
    C,F--65027528(+) AGTCTC/TGCTCT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1852222181,2
    --65027576(+) TACTGC/TAAGCT 1 -- int10--------
    rs1124694561,2
    C,F--65027619(+) CAGCCG/TCCCAA 1 -- int11Minor allele frequency- T:0.50WA 2
    rs710648751,2
    C--65027666(-) AAAAGA/-AAAAA 1 -- int11Minor allele frequency- -:0.00NA 2
    rs124220901,2
    H--65027675(+) tttttC/Tctttt 1 -- int1 trp30--------
    rs124206021,2
    C,A,H--65027676(+) tttttC/Tttttt 1 -- int1 trp30--------
    rs1138622461,2
    C,F--65027731(+) GTCTCG/AATCTC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs714623371,2
    C--65027801(+) ACCGCG/ACCCGG 1 -- int13Minor allele frequency- A:0.17NA 6
    rs1877144121,2
    --65027805(+) CACCCA/GGCCTT 1 -- int10--------
    rs358429231,2
    C--65027809(+) CTTTG-/TTTG  
            
    CTTTT
    1 -- int10--------

    HapMap Linkage Disequilibrium report for POLA2 (65029233 - 65073060 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for POLA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744631CNV Deletion23290073
    esv2422285CNV Deletion17116639
    nsv832190CNV Loss17160897
    nsv526181CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POLA2
    DNA2.0 Custom Variant and Variant Library Synthesis for POLA2

    (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.)
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    2 diseases for POLA2:    About MalaCards
    malaria    cerebritis


    POLA2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): POLA2
    Human Genome Epidemiology (HuGE) Navigator: POLA2 (3 documents)

    Export disorders for POLA2 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 POLA2 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with POLA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The role of the 70 kDa subunit of human DNA polymerase alpha in DNA replication. (PubMed id 8223465)1, 2, 3 Collins K.L.... Kelly T.J. (EMBO J. 1993)
    2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    3. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (Carcinogenesis 2009)
    4. 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)
    5. E2F mediates induction of the Sp1-controlled promoter of the human DNA polymerase varepsilon B-subunit gene POLE2. (PubMed id 11433027)1, 3 Huang D.... Syvaoja J.E. (Nucleic Acids Res. 2001)
    6. Cell cycle-dependent phosphorylation of human DNA polymerase alpha. (PubMed id 1902230)1, 2 Nasheuer H.-P.... Wang T.S.-F. (J. Biol. Chem. 1991)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    9. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    10. A conserved motif in the C-terminal tail of DNA polymerase I+ tethers primase to the eukaryotic replisome. (PubMed id 22593576)1 Kilkenny M.L....Pellegrini L. (J. Biol. Chem. 2012)

    (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: 23649 HGNC: 30073 AceView: POLA2andCDC42EP2 Ensembl:ENSG00000014138 euGenes: HUgn23649
    ECgene: POLA2 Kegg: 23649 H-InvDB: POLA2

    (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 POLA2 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 POLA2 gene:
    Search GeneIP for patents involving POLA2

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



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