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POLD2 Gene

protein-coding   GIFtS: 61
GCID: GC07M044120

Polymerase (DNA Directed), Delta 2, Accessory Subunit

(Previous names: polymerase (DNA directed), delta 2, regulatory subunit (5...)
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(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), Delta 2, Accessory Subunit1 2     EC 2.7.7.73 8
DNA Polymerase Delta Subunit P501 2 3     Polymerase (DNA Directed), Delta 2, Regulatory Subunit (50kD)1
Polymerase (DNA Directed), Delta 2, Regulatory Subunit 50kDa1 2     DNA Polymerase Delta Subunit 22
Pol Delta B Subunit (P50)1 2     

External Ids:    HGNC: 91761   Entrez Gene: 54252   Ensembl: ENSG000001066287   OMIM: 6008155   UniProtKB: P490053   

Export aliases for POLD2 gene to outside databases

Previous GC identifers: GC07M043800 GC07M043861 GC07M043895 GC07M043927 GC07M044039


(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 POLD2 Gene:
This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both
polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded
protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor
proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas.
Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a
pseudogene of this gene is located on the long arm of chromosome 5. (provided by RefSeq, Mar 2012)

GeneCards Summary for POLD2 Gene:
POLD2 (polymerase (DNA directed), delta 2, accessory subunit) is a protein-coding gene. GO annotations related to this gene include DNA-directed DNA polymerase activity.

UniProtKB/Swiss-Prot: DPOD2_HUMAN, P49005
Function: The function of the small subunit is not yet clear

Gene Wiki entry for POLD2 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_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the POLD2 gene promoter:
         ER-alpha   Pax-2   AP-4   Pax-2a   Egr-4   Max   Pax-2b   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): POLD2 promoter sequence
   Search Chromatin IP Primers for POLD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POLD2


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

Entrez Gene cytogenetic band: 7p13   Ensembl cytogenetic band:  7p13   HGNC cytogenetic band: 7p13

POLD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLD2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M044120:  view genomic region     (about GC identifiers)

Start:
44,154,286 bp from pter      End:
44,163,957 bp from pter
Size:
9,672 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 44,193,781-44,202,644     

(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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DPOD2_HUMAN, P49005 (See protein sequence)
Recommended Name: DNA polymerase delta subunit 2  
Size: 469 amino acids; 51289 Da
Subunit: Heterotetramer composed of subunits of 125 kDa, 50 kDa, 66 kDa and 12 kDa. Interacts with KCTD10 (By
similarity). Interacts with KCTD13/POLDIP1, POLDIP2 and POLDIP3. Interacts with WRNIP1. Interacts with POLD4
1 PDB 3D structure from and Proteopedia for POLD2:
3E0J (3D)    
Secondary accessions: A4D2J4 B2R5S4

Explore the universe of human proteins at neXtProt for POLD2: NX_P49005

Explore proteomics data for POLD2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys81, Lys90, Lys99, Lys125, Lys267, Lys389, Lys413
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for POLD2 (P49005) (see all 6)
     VKKLCELQP  RQYAHIYATRL  SRVILAGNLLS  PTAPDTLGCYPFYK 


    See POLD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001120690.1  NP_001243808.1  NP_006221.2  

    ENSEMBL proteins: 
     ENSP00000386105   ENSP00000223361   ENSP00000395231   ENSP00000399447   ENSP00000416203  
     ENSP00000389816   ENSP00000397461   ENSP00000406702  
    Reactome Protein details: P49005

    POLD2 Human Recombinant Protein Products:

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    Novus Biologicals POLD2 Protein
    Novus Biologicals POLD2 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for POLD2 

     
    antibodies-online proteins for POLD2 (11 products) 

     
    Search antibodies-online for peptides for POLD2

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    antibodies-online antibodies for POLD2 (32 products) 

    POLD2 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for POLD2 
    antibodies-online kits for POLD2 (4 products) 


    (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

    2 InterPro protein domains:
     IPR007185 DNA_pol_alpha/epsilon_bsu
     IPR024826 DNA_pol_delta/II_ssu

    Graphical View of Domain Structure for InterPro Entry P49005

    ProtoNet protein and cluster: P49005

    UniProtKB/Swiss-Prot: DPOD2_HUMAN, P49005
    Similarity: Belongs to the DNA polymerase delta/II small subunit family


    Find genes that share domains with POLD2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: DPOD2_HUMAN, P49005
    Function: The function of the small subunit is not yet clear
    Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

         Genatlas biochemistry entry for POLD2:
    polymerase (DNA directed) delta 2,small catalytic subunit 48kDa,involved in DNA replication of nuclear genome

         Enzyme Number (IUBMB): EC 2.7.7.71 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003887DNA-directed DNA polymerase activity IEA--
    GO:0005515protein binding IPI12403614
         
    Find genes that share ontologies with POLD2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for POLD2:
     Decreased viability of wild-ty 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for POLD2

    miRNA
    Products:
        
    miRTarBase miRNAs that target POLD2:
    hsa-let-7b-5p (MIRT001608), hsa-mir-222-3p (MIRT046820)

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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLD2

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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
    DPOD2_HUMAN, P49005: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion2
    cytosol1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0043625delta DNA polymerase complex IEA--

    Find genes that share ontologies with POLD2           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 POLD2 About   (see all 15)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Telomere C-strand (Lagging Strand) Synthesis
    Gap-filling DNA repair synthesis and ligation in TC-NER0.94
    Removal of the Flap Intermediate from the C-strand0.00
    Repair synthesis of patch ~27-30 bases long by DNA polymerase0.94
    Polymerase switching on the C-strand of the telomere0.00
    Telomere C-strand (Lagging Strand) Synthesis0.79
    Lagging Strand Synthesis0.00
    Extension of Telomeres0.79
    Removal of the Flap Intermediate0.00
    2Resolution 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
    Removal of DNA patch containing abasic residue0.00
    Base excision repair0.53
    3Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Nucleotide excision repair0.69
    4DNA strand elongation
    DNA strand elongation0.63
    DNA replication0.63
    5Homologous recombination
    Homologous recombination0.40
    Homologous recombination0.40


    Find genes that share SuperPaths with POLD2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLD2
        DNA Repair Mechanisms
    Cell Cycle Control of Chromosomal Replication

    1 GeneGo (Thomson Reuters) Pathway for POLD2
        Cell cycle Transition and termination of DNA replication

    2 BioSystems Pathways for POLD2
        Homologous recombination
    DNA Replication

    Selected Reactome Pathways for POLD2 (see all 12)
        Processive synthesis on the lagging strand
    Removal of DNA patch containing abasic residue
    Processive synthesis on the C-strand of the telomere
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway
    Repair synthesis for gap-filling by DNA polymerase in TC-NER


    Selected Kegg Pathways  (Kegg details for POLD2) (see all 9):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    DNA replication
    Base excision repair

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POLD2
    Interactions:

        Search GeneGlobe Interaction Network for POLD2

    Selected Interacting proteins for POLD2 (P490051, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POLD3Q150541, 3EBI-372354,EBI-864956 I2D: score=4 
    WRNIP1Q96S551, 3EBI-372354,EBI-2513471 I2D: score=2 
    POLD1P283401, 3EBI-372354,EBI-716569 I2D: score=13 
    POLD4Q9HCU81, 3EBI-372354,EBI-864968 I2D: score=1 
    PCNAP120043I2D: score=6 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--
    GO:0000723telomere maintenance TAS--
    GO:0006260DNA replication TAS8530069
    GO:0006261DNA-dependent DNA replication ----

    Find genes that share ontologies with POLD2           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 POLD2 (DPOD2)



    (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 POLD2 gene (3 alternative transcripts): 
    NM_001127218.2  NM_001256879.1  NM_006230.3  

    Unigene Cluster for POLD2:

    Polymerase (DNA directed), delta 2, accessory subunit
    Hs.306791  [show with all ESTs]
    Unigene Representative Sequence: NM_001256879
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406581(uc010kxz.3 uc003tkf.4) ENST00000489883 ENST00000223361
    ENST00000452185(uc010kya.3) ENST00000436400 ENST00000436844 ENST00000481104
    ENST00000433715 ENST00000463464 ENST00000470867 ENST00000464871 ENST00000461116
    ENST00000467469 ENST00000456038 ENST00000418438 ENST00000496539 ENST00000481763

    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): POLD2 (NM_006230)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLD2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POLD2
      QuantiTect SYBR Green Assays in human, mouse, rat POLD2
      QuantiFast Probe-based Assays in human, mouse, rat POLD2

    Additional mRNA sequence: 

    AK292347.1 AK298168.1 AK312294.1 BC000459.2 BC030001.2 U21090.1 

    Selected DOTS entries (see all 32):

    DT.97855172  DT.75153120  DT.100884161  DT.100038843  DT.100884147  DT.100836470  DT.100722986  DT.100726622 
    DT.121045056  DT.100884156  DT.92467260  DT.100884142  DT.95232125  DT.95247546  DT.97780886  DT.100884162 
    DT.100038844  DT.100038845  DT.100683602  DT.100712649  DT.100838342  DT.100884140  DT.121044981  DT.121045082 

    Selected AceView cDNA sequences (see all 767):

    BM743715 BQ067897 BU527210 BP377590 AI689931 BF794058 AW249986 CR592373 
    BQ935258 CB105783 BE383907 BE254194 BQ949727 AI083769 BM836921 BE886977 
    BQ226949 BM969945 Z41796 BM764677 CR617641 CR620259 BE263513 CA422688 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POLD2 (see all 17)    About this scheme

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

    ExUns: 11b ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b · 15c
    SP1:                                            -               
    SP2:                                                            
    SP3:                                                            
    SP4:  -     -     -     -     -                 -               
    SP5:                                                            


    ECgene alternative splicing isoforms for POLD2

    (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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    POLD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTACTTTTG
    POLD2 Expression
    About this image


    POLD2 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)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
    POLD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.306791
        Custom PCR Arrays for POLD2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLD2

    (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 POLD2 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pold21 , 5 polymerase (DNA directed), delta 2, regulatory subunit1, 5 88.14(n)1
    94.76(a)1
      11 (3.88 cM)5
    189721  NM_008894.21  NP_032920.21 
     58721805 
    chicken
    (Gallus gallus)
    Aves POLD21 polymerase (DNA directed), delta 2, accessory subunit 73.64(n)
    73.86(a)
      100859398  XM_004950987.1  XP_004951044.1 
    lizard
    (Anolis carolinensis)
    Reptilia POLD26
    polymerase (DNA directed), delta 2, accessory subu...
    74(a)
    1 ↔ 1
    GL343238.1(318839-334610)
    African clawed frog
    (Xenopus laevis)
    Amphibia pold2-prov2 polymerase (DNA directed), delta 2, regulatory subunit more 73.9(n)    BC047262.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.180662 Danio rerio mRNA similar to polymerase (DNA directed), more 73.72(n)    BC045410.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:HL038743
    CG120181
    DNA replication delta DNA polymerase3
    CG120181
    43(a)3
    51.28(n)1
    44.47(a)1
      62B43
    382281  NM_139402.31  NP_647659.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F12F6.73 Yeast HUS2 protein like 28(a)   IV(11559070-11562004)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POL31(YJR006W)4 DNA polymerase III (delta) subunit, essential for cell more   --   10(449202-450665) 853462  NP_012539.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons POLD21 POLD2 48.64(n)
    44.5(a)
      818812  NM_201935.2  NP_973664.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g01285001 Os03g0128500 49.92(n)
    44.02(a)
      4331489  NM_001055376.1  NP_001048841.1 


    ENSEMBL Gene Tree for POLD2 (if available)
    TreeFam Gene Tree for POLD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POLD2 gene

    Find genes that share paralogs with POLD2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for POLD2
    PGOHUM00000235694


    (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 POLD2 (see all 286)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1809986111,2
    --44154737(+) CTTGGC/TTCCCA 3 -- int10--------
    rs50177201,2
    H--44154810(+) CACAAT/AGCAGG 3 -- int14Minor allele frequency- A:0.00NS EA 416
    rs1134871121,2
    C--44154867(+) ATCAGG/CCTGGG 3 -- int11Minor allele frequency- C:0.50CSA 2
    rs32179701,2
    F,H--44154946(-) TGCCCG/ACATGT 6 /P syn1 ese35Minor allele frequency- A:0.00NS EA 570
    rs32179691,2
    C,F--44155006(-) GCCCCT/CTCTCC 3 -- int1 trp33Minor allele frequency- C:0.03NS CSA WA 278
    rs1995617441,2
    --44155030(+) GTTCCA/GCCTCA 3 -- int10--------
    rs1862806731,2
    --44155115(+) GACAAC/TAGGGG 3 -- int10--------
    rs1119313631,2
    C--44155244(+) AACTTCTC/-CTCAG 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs20750701,2
    C,F,H--44155252(-) AACTGT/CCTGAG 3 -- int131Minor allele frequency- C:0.34NS EA NA WA CSA 3090
    rs1410516041,2
    C--44155451(+) TGTATC/TGGAAA 6 Q R mis11Minor allele frequency- T:0.00NA 4552

    HapMap Linkage Disequilibrium report for POLD2 (44154286 - 44163957 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for POLD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv998294CNV Deletion20482838
    nsv887996CNV Loss21882294
    nsv887997CNV Loss21882294
    nsv470210CNV Loss18288195
    nsv830983CNV Loss17160897
    nsv428165CNV Gain18775914
    nsv8082CNV Gain18304495

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing POLD2
    DNA2.0 Custom Variant and Variant Library Synthesis for POLD2

    (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: 600815    OMIM disorders: --


    Find genes that share disorders with POLD2           About GenesLikeMe

    Genetic Association Database (GAD): POLD2
    Human Genome Epidemiology (HuGE) Navigator: POLD2 (3 documents)

    Export disorders for POLD2 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 POLD2 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with POLD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the cDNAs for the small subunits of bovine and human DNA polymerase delta and chromosomal location of the human gene (POLD2). (PubMed id 8530069)1, 2, 3 Zhang J.... So A.G. (Genomics 1995)
    2. Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PubMed id 20574454)1, 4 Arora M....Thyagarajan B. (Leukemia 2010)
    3. Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations. (PubMed id 20226869)1, 4 Thyagarajan B....Arora M. (Biol. Blood Marrow Transplant. 2010)
    4. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (Carcinogenesis 2009)
    5. Functional roles of p12, the fourth subunit of human DNA polymerase delta. (PubMed id 16510448)1, 2 Li H.... Lee M.Y. (J. Biol. Chem. 2006)
    6. Human Werner helicase interacting protein 1 (WRNIP1) functions as a novel modulator for DNA polymerase delta. (PubMed id 15670210)1, 2 Tsurimoto T.... Enomoto T. (Genes Cells 2005)
    7. 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)
    8. Identification of a novel protein, PDIP38, that interacts with the p50 subunit of DNA polymerase delta and proliferating cell nuclear antigen. (PubMed id 12522211)1, 2 Liu L.... Lee M.Y.W.T. (J. Biol. Chem. 2003)
    9. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    10. A tumor necrosis factor alpha- and interleukin 6-inducible protein that interacts with the small subunit of DNA polymerase delta and proliferating cell nuclear antigen. (PubMed id 11593007)1, 2 He H.... So A.G. (Proc. Natl. Acad. Sci. U.S.A. 2001)

    (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: 5425 HGNC: 9176 AceView: POLD2 Ensembl:ENSG00000106628 euGenes: HUgn5425
    ECgene: POLD2 Kegg: 5425 H-InvDB: POLD2

    (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 POLD2 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pold2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for POLD2 gene:
    Search GeneIP for patents involving POLD2

    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, eBioscience, antibodies-online, 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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