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Aliases for POLE2 Gene

Aliases for POLE2 Gene

  • DNA Polymerase Epsilon 2, Accessory Subunit 2 3 5
  • DNA Polymerase Epsilon Subunit B 2 3 4
  • Polymerase (DNA Directed), Epsilon 2 (P59 Subunit) 2 3
  • Polymerase (DNA) Epsilon 2, Accessory Subunit 2 3
  • DNA Polymerase II Subunit 2 3 4
  • DPE2 3 4
  • Polymerase (DNA Directed), Epsilon 2, Accessory Subunit 3
  • DNA Polymerase Epsilon Subunit 2 3
  • EC 4

External Ids for POLE2 Gene

Previous GeneCards Identifiers for POLE2 Gene

  • GC14M047432
  • GC14M043906
  • GC14M048100
  • GC14M049180
  • GC14M050110
  • GC14M030227

Summaries for POLE2 Gene

Entrez Gene Summary for POLE2 Gene

  • 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]

GeneCards Summary for POLE2 Gene

POLE2 (DNA Polymerase Epsilon 2, Accessory Subunit) is a Protein Coding gene. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include DNA-directed DNA polymerase activity.

UniProtKB/Swiss-Prot for POLE2 Gene

  • Participates in DNA repair and in chromosomal DNA replication.

Gene Wiki entry for POLE2 Gene

Additional gene information for POLE2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLE2 Gene

Genomics for POLE2 Gene

GeneHancer (GH) Regulatory Elements for POLE2 Gene

Promoters and enhancers for POLE2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J049687 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.3 279 1.9 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF213 E2F8 POLE2 RHOQP1 VCPKMT LRR1 RPL36AL RNU6ATAC30P GC14P049663
GH14J049686 Enhancer 0.3 Ensembl 650.7 +1.9 1921 0.2 RBAK POLE2 RNU6ATAC30P NEMF KLHDC2 ENSG00000258377 GC14P049663
GH14J049583 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.4 +102.6 102615 4 HDGF CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 RPS29 ENSG00000283029 GC14M049586 GC14M049587 GC14P049611 PIR42644 RN7SL1 LRR1 RPL36AL KLHDC1
GH14J049594 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 19.6 +90.9 90902 7.8 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A FEZF1 LRR1 RPS29 RPL36AL VCPKMT POLE2 RHOQP1 MGAT2 ENSG00000278009 ENSG00000252919
GH14J049851 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.7 -164.3 -164270 3.3 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 NEMF RN7SL3 GC14M049855 RPL36AL VCPKMT POLE2 RHOQP1 RPS29 ENSG00000282885 LRR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLE2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POLE2 gene promoter:
  • Zic3
  • CUTL1
  • deltaCREB
  • CREB
  • ZID
  • HFH-1
  • TBP
  • c-Myc
  • Max1

Genomic Locations for POLE2 Gene

Genomic Locations for POLE2 Gene
44,871 bases
Minus strand
44,871 bases
Minus strand

Genomic View for POLE2 Gene

Genes around POLE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLE2 Gene

Proteins for POLE2 Gene

  • Protein details for POLE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    DNA polymerase epsilon subunit 2
    Protein Accession:
    Secondary Accessions:
    • A0AV55
    • A4FU92
    • A4LBB7
    • A6NH58
    • B4DDE6
    • O43560

    Protein attributes for POLE2 Gene

    527 amino acids
    Molecular mass:
    59537 Da
    Quaternary structure:
    • Component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4.
    • In eukaryotes there are five DNA polymerases: alpha, beta, gamma, delta, and epsilon which are responsible for different reactions of DNA synthesis.

    Three dimensional structures from OCA and Proteopedia for POLE2 Gene

    Alternative splice isoforms for POLE2 Gene


neXtProt entry for POLE2 Gene

Post-translational modifications for POLE2 Gene

  • Ubiquitination at Lys523 and posLast=270270
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for POLE2 Gene

Domains & Families for POLE2 Gene

Gene Families for POLE2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for POLE2 Gene

Suggested Antigen Peptide Sequences for POLE2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DNA polymerase epsilon subunit B family.
  • Belongs to the DNA polymerase epsilon subunit B family.
genes like me logo Genes that share domains with POLE2: view

Function for POLE2 Gene

Molecular function for POLE2 Gene

UniProtKB/Swiss-Prot Function:
Participates in DNA repair and in chromosomal DNA replication.
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
GENATLAS Biochemistry:
polymerase (DNA directed) epsilon 2,59kDa,potential adaptor between the catalytic subunit and other accessory proteins

Enzyme Numbers (IUBMB) for POLE2 Gene

Phenotypes From GWAS Catalog for POLE2 Gene

Gene Ontology (GO) - Molecular Function for POLE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003887 contributes_to DNA-directed DNA polymerase activity IBA,TAS --
GO:0005515 protein binding IPI 10801849
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
genes like me logo Genes that share ontologies with POLE2: view
genes like me logo Genes that share phenotypes with POLE2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for POLE2

CRISPR Products

miRNA for POLE2 Gene

miRTarBase miRNAs that target POLE2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLE2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POLE2 Gene

Localization for POLE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLE2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLE2 gene
Compartment Confidence
nucleus 5
mitochondrion 3
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0008622 epsilon DNA polymerase complex IDA 10801849
GO:0016604 nuclear body IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with POLE2: view

Pathways & Interactions for POLE2 Gene

SuperPathways for POLE2 Gene

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
2 CDK-mediated phosphorylation and removal of Cdc6
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
4 DNA Double-Strand Break Repair
5 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
genes like me logo Genes that share pathways with POLE2: view

Gene Ontology (GO) - Biological Process for POLE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0006260 DNA replication TAS 9405441
GO:0006261 DNA-dependent DNA replication IBA --
GO:0006270 DNA replication initiation TAS --
GO:0006281 DNA repair TAS 9405441
genes like me logo Genes that share ontologies with POLE2: view

No data available for SIGNOR curated interactions for POLE2 Gene

Drugs & Compounds for POLE2 Gene

(6) Drugs for POLE2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cladribine Approved, Investigational Pharma Target, inhibitor Apoptosis inducer in CLL cells 81
Cytarabine Approved, Investigational Pharma 1166
Phosphoric acid Approved Pharma 0
dATP Experimental Pharma Full agonist, Agonist 0
dctp Experimental Pharma 0

(2) Additional Compounds for POLE2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • Deoxy-TTP
  • Deoxythymidine 5'-triphosphate
  • Deoxythymidine triphosphate
genes like me logo Genes that share compounds with POLE2: view

Transcripts for POLE2 Gene

Unigene Clusters for POLE2 Gene

Polymerase (DNA directed), epsilon 2, accessory subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLE2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLE2 Gene

No ASD Table

Relevant External Links for POLE2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for POLE2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POLE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLE2 Gene

This gene is overexpressed in Heart (56.1) and Fetal ovary (12.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POLE2 Gene

Protein tissue co-expression partners for POLE2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POLE2 Gene:


SOURCE GeneReport for Unigene cluster for POLE2 Gene:

genes like me logo Genes that share expression patterns with POLE2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLE2 Gene

Orthologs for POLE2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLE2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia POLE2 34 33
  • 99.56 (n)
(Bos Taurus)
Mammalia POLE2 34 33
  • 92.73 (n)
(Canis familiaris)
Mammalia POLE2 33
  • 91.52 (n)
(Rattus norvegicus)
Mammalia Pole2 33
  • 86.53 (n)
(Mus musculus)
Mammalia Pole2 16 34 33
  • 86.27 (n)
(Ornithorhynchus anatinus)
Mammalia POLE2 34
  • 86 (a)
(Monodelphis domestica)
Mammalia POLE2 34
  • 84 (a)
(Gallus gallus)
Aves POLE2 34 33
  • 78.05 (n)
(Anolis carolinensis)
Reptilia POLE2 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pole2 33
  • 76.09 (n)
Str.3481 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1015 33
(Danio rerio)
Actinopterygii pole2 34 33 33
  • 65.4 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6430 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004614 33
  • 50.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pole2 34 33
  • 49.12 (n)
CG10489 35
  • 44 (a)
(Caenorhabditis elegans)
Secernentea pole-2 34 33
  • 47.19 (n)
F08B4.5 35
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPB2 36 34
  • 21 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons DPB2 33
  • 48.31 (n)
(Oryza sativa)
Liliopsida Os05g0160800 33
  • 49.77 (n)
Species where no ortholog for POLE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POLE2 Gene

Gene Tree for POLE2 (if available)
Gene Tree for POLE2 (if available)
Evolutionary constrained regions (ECRs) for POLE2: view image

Paralogs for POLE2 Gene Pseudogenes for POLE2 Gene

genes like me logo Genes that share paralogs with POLE2: view

No data available for Paralogs for POLE2 Gene

Variants for POLE2 Gene

Sequence variations from dbSNP and Humsavar for POLE2 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000072457 -- 49,648,352(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000082441 -- 49,667,476(-) G/A intron_variant
rs1000173169 -- 49,677,546(-) C/T intron_variant
rs1000364439 -- 49,655,563(-) T/A intron_variant
rs1000414145 -- 49,680,471(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for POLE2 Gene

Variant ID Type Subtype PubMed ID
dgv1082n106 CNV deletion 24896259
esv1091889 CNV deletion 17803354
esv2748707 CNV deletion 23290073
esv2748709 CNV deletion 23290073
esv28926 CNV gain+loss 19812545
esv3082 CNV loss 18987735
esv3551535 CNV deletion 23714750
esv3634466 CNV gain 21293372
esv3634467 CNV gain 21293372
nsv1035708 CNV gain 25217958
nsv1070220 CNV deletion 25765185
nsv1141553 CNV deletion 24896259
nsv1141556 CNV deletion 24896259
nsv1152236 CNV deletion 26484159
nsv958768 CNV deletion 24416366

Variation tolerance for POLE2 Gene

Residual Variation Intolerance Score: 20.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.30; 53.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLE2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLE2 Gene

Disorders for POLE2 Gene

Additional Disease Information for POLE2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for POLE2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for POLE2 Gene

Publications for POLE2 Gene

  1. The small subunits of human and mouse DNA polymerase epsilon are homologous to the second largest subunit of the yeast Saccharomyces cerevisiae DNA polymerase epsilon. (PMID: 9443964) Jokela M … Syväoja JE (Nucleic acids research 1998) 2 3 4 58
  2. Purification, cDNA cloning, and gene mapping of the small subunit of human DNA polymerase epsilon. (PMID: 9405441) Li Y … Linn S (The Journal of biological chemistry 1997) 2 3 4 58
  3. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S … Benhamou S (Carcinogenesis 2009) 3 44 58
  4. The solution structure of the amino-terminal domain of human DNA polymerase epsilon subunit B is homologous to C-domains of AAA+ proteins. (PMID: 18676977) Nuutinen T … Syvaoja JE (Nucleic acids research 2008) 3 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for POLE2 Gene

Sources for POLE2 Gene

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