Human Gene POLE2 (uc001wwu.3) Description and Page Index
  Description: Homo sapiens polymerase (DNA directed), epsilon 2, accessory subunit (POLE2), transcript variant 1, mRNA.
RefSeq Summary (NM_002692): DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017].
Transcript (Including UTRs)
   Position: hg19 chr14:50,110,270-50,155,098 Size: 44,829 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr14:50,110,370-50,154,921 Size: 44,552 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:50,110,270-50,155,098)mRNA (may differ from genome)Protein (527 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: DPOE2_HUMAN
DESCRIPTION: RecName: Full=DNA polymerase epsilon subunit 2; EC=2.7.7.7; AltName: Full=DNA polymerase II subunit 2; AltName: Full=DNA polymerase epsilon subunit B;
FUNCTION: Participates in DNA repair and in chromosomal DNA replication.
CATALYTIC ACTIVITY: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
SUBUNIT: Component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4.
SUBCELLULAR LOCATION: Nucleus.
MISCELLANEOUS: In eukaryotes there are five DNA polymerases: alpha, beta, gamma, delta, and epsilon which are responsible for different reactions of DNA synthesis.
SIMILARITY: Belongs to the DNA polymerase epsilon subunit B family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/pole2/";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): POLE2
CDC HuGE Published Literature: POLE2

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000082 Acetaminophen
  • D016604 Aflatoxin B1
  • D001564 Benzo(a)pyrene
  • D002945 Cisplatin
  • D016572 Cyclosporine
  • D004958 Estradiol
  • D013749 Tetrachlorodibenzodioxin
  • C029497 2,3-bis(3'-hydroxybenzyl)butyrolactone
  • C063002 2,3-dimethoxy-1,4-naphthoquinone
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.40 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 35.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -78.70177-0.445 Picture PostScript Text
3' UTR -17.10100-0.171 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007185 - DNA_pol_alpha/epsilon_bsu
IPR016266 - DNA_pol_e_bsu
IPR024639 - DNA_pol_e_bsu_N

Pfam Domains:
PF04042 - DNA polymerase alpha/epsilon subunit B
PF12213 - DNA polymerases epsilon N terminal

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2V6Z
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on P56282
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
   FlyBaseWormBaseSGD
   Protein SequenceProtein SequenceProtein Sequence
   AlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003887 DNA-directed DNA polymerase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity

Biological Process:
GO:0000082 G1/S transition of mitotic cell cycle
GO:0006260 DNA replication
GO:0006261 DNA-dependent DNA replication
GO:0006281 DNA repair
GO:0042276 error-prone translesion synthesis

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0008622 epsilon DNA polymerase complex
GO:0016604 nuclear body
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AK293163 - Homo sapiens cDNA FLJ58128 complete cds, highly similar to DNA polymerase epsilon subunit 2 (EC 2.7.7.7).
AF025840 - Homo sapiens DNA polymerase epsilon subunit B (DPE2) mRNA, complete cds.
AF036899 - Homo sapiens DNA polymerase epsilon small subunit (POLE2) mRNA, complete cds.
BX248064 - human full-length cDNA clone CS0DJ011YD14 of T cells (Jurkat cell line) of Homo sapiens (human).
BC126218 - Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit), mRNA (cDNA clone MGC:161496 IMAGE:8991934), complete cds.
BC126220 - Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit), mRNA (cDNA clone MGC:161498 IMAGE:8991936), complete cds.
KJ891842 - Synthetic construct Homo sapiens clone ccsbBroadEn_01236 POLE2 gene, encodes complete protein.
AK314963 - Homo sapiens cDNA, FLJ95878.
HQ258453 - Synthetic construct Homo sapiens clone IMAGE:100072882 polymerase (DNA directed), epsilon 2 (p59 subunit) (POLE2) gene, encodes complete protein.
AB590929 - Synthetic construct DNA, clone: pFN21AB9939, Homo sapiens POLE2 gene for polymerase (DNA directed), epsilon 2, without stop codon, in Flexi system.
BC112962 - Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit), mRNA (cDNA clone MGC:132403 IMAGE:7481939), complete cds.
KJ897354 - Synthetic construct Homo sapiens clone ccsbBroadEn_06748 POLE2 gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa00240 - Pyrimidine metabolism
hsa01100 - Metabolic pathways
hsa03030 - DNA replication
hsa03410 - Base excision repair
hsa03420 - Nucleotide excision repair

Reactome (by CSHL, EBI, and GO)

Protein P56282 (Reactome details) participates in the following event(s):

R-HSA-68960 DNA polymerase epsilon binds at the origin
R-HSA-68913 The primase component of DNA polymerase:primase synthesizes a 6-10 nucleotide RNA primer at the origin
R-HSA-174425 The primase component of DNA polymerase:primase synthesizes a 6-10 nucleotide RNA primer on the G strand of the telomere
R-HSA-68914 DNA polymerase alpha:primase binds at the origin
R-HSA-5653838 POLD,POLE binds deISGylated PCNA after TLS
R-HSA-5652009 RAD18:UBE2B or RBX1:CUL4:DDB1:DTL monoubiquitinates PCNA
R-HSA-110364 PCNA:POLD,POLE:RPA:RFC and FEN1 bind APEX1
R-HSA-5651992 PCNA-containing replication complex binds damaged dsDNA
R-HSA-5651809 LIG1, APEX1 and PCNA:POLD,POLE:RPA:RFC dissociate from repaired DNA
R-HSA-5653840 POLD,POLE complete replication of damaged DNA after TLS
R-HSA-5690213 DNA polymerases delta, epsilon or kappa bind the GG-NER site
R-HSA-6782211 DNA polymerases delta, epsilon or kappa bind the TC-NER site
R-HSA-110368 POLD,POLE-mediated DNA strand displacement synthesis
R-HSA-110371 LIG1 binds APEX1 and PCNA at SSB
R-HSA-110363 FEN1 bound to PCNA and APEX1 cleaves flap ssDNA
R-HSA-5651805 LIG1 bound to APEX1 and PCNA ligates SSB
R-HSA-5652005 RAD18:UBE2B or RBX1:CUL4:DDB1:DTL ubiquitin ligase complex binds PCNA:POLD,POLE:RPA:RFC associated with damaged dsDNA
R-HSA-5693593 D-loop extension by DNA polymerases
R-HSA-5690997 Ligation of newly synthesized repair patch to incised DNA in GG-NER
R-HSA-6782227 Ligation of newly synthesized repair patch to incised DNA in TC-NER
R-HSA-5690988 3'-incision of DNA by ERCC5 (XPG) in GG-NER
R-HSA-5691001 Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in GG-NER
R-HSA-6782224 3' incision by ERCC5 (XPG) in TC-NER
R-HSA-6782208 Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in TC-NER
R-HSA-68962 Activation of the pre-replicative complex
R-HSA-68952 DNA replication initiation
R-HSA-174430 Telomere C-strand synthesis initiation
R-HSA-5656169 Termination of translesion DNA synthesis
R-HSA-110314 Recognition of DNA damage by PCNA-containing replication complex
R-HSA-69002 DNA Replication Pre-Initiation
R-HSA-69206 G1/S Transition
R-HSA-69239 Synthesis of DNA
R-HSA-174417 Telomere C-strand (Lagging Strand) Synthesis
R-HSA-5651801 PCNA-Dependent Long Patch Base Excision Repair
R-HSA-5696400 Dual Incision in GG-NER
R-HSA-6782135 Dual incision in TC-NER
R-HSA-110313 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
R-HSA-73893 DNA Damage Bypass
R-HSA-68874 M/G1 Transition
R-HSA-453279 Mitotic G1-G1/S phases
R-HSA-69242 S Phase
R-HSA-69306 DNA Replication
R-HSA-180786 Extension of Telomeres
R-HSA-110373 Resolution of AP sites via the multiple-nucleotide patch replacement pathway
R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER)
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-73894 DNA Repair
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-157579 Telomere Maintenance
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-73933 Resolution of Abasic Sites (AP sites)
R-HSA-5696397 Gap-filling DNA repair synthesis and ligation in GG-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-5696398 Nucleotide Excision Repair
R-HSA-1640170 Cell Cycle
R-HSA-73886 Chromosome Maintenance
R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
R-HSA-73884 Base Excision Repair
R-HSA-5693538 Homology Directed Repair
R-HSA-5693532 DNA Double-Strand Break Repair

-  Other Names for This Gene
  Alternate Gene Symbols: A0AV55, A4FU92, A4LBB7, A6NH58, B4DDE6, DPE2, DPOE2_HUMAN, NM_002692, NP_002683, O43560, P56282
UCSC ID: uc001wwu.3
RefSeq Accession: NM_002692
Protein: P56282 (aka DPOE2_HUMAN or DPE2_HUMAN)
CCDS: CCDS32073.1, CCDS55914.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002692.3
exon count: 19CDS single in 3' UTR: no RNA size: 1861
ORF size: 1584CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3248.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 1
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.