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] See more...

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
  • DPE2 2 3 4
  • Polymerase (DNA Directed), Epsilon 2 (P59 Subunit) 2 3
  • Polymerase (DNA) Epsilon 2, Accessory Subunit 2 3
  • DNA Polymerase Epsilon Subunit 2 3 4
  • DNA Polymerase II Subunit 2 3 4
  • Polymerase (DNA Directed), Epsilon 2, Accessory Subunit 3
  • EC 2.7.7.7 51
  • POLE2 5

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. Diseases associated with POLE2 include Holoprosencephaly 2 and Colorectal Cancer. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include DNA-directed DNA polymerase activity.

UniProtKB/Swiss-Prot Summary for POLE2 Gene

  • Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity).

Gene Wiki entry for POLE2 Gene

Additional gene information for POLE2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLE2 Gene

Genomics for POLE2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLE2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLE2

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

Genomic Locations for POLE2 Gene

Genomic Locations for POLE2 Gene
chr14:49,643,552-49,688,422
(GRCh38/hg38)
Size:
44,871 bases
Orientation:
Minus strand
chr14:50,110,270-50,155,140
(GRCh37/hg19)
Size:
44,871 bases
Orientation:
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:
    P56282-DPOE2_HUMAN
    Recommended name:
    DNA polymerase epsilon subunit 2
    Protein Accession:
    P56282
    Secondary Accessions:
    • A0AV55
    • A4FU92
    • A4LBB7
    • A6NH58
    • B4DDE6
    • O43560

    Protein attributes for POLE2 Gene

    Size:
    527 amino acids
    Molecular mass:
    59537 Da
    Quaternary structure:
    • Component of the DNA polymerase epsilon complex consisting of four subunits: the catalytic subunit POLE and the accessory subunits POLE2, POLE3 and POLE4.
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for POLE2 Gene

Selected DME Specific Peptides for POLE2 Gene

P56282:
  • CGNFSSAPYGKNQ
  • FKVFYPS
  • VPFSVFTTNPCR
  • FVFVPGP
  • QRTHRHELFTP
  • VEAAVQECSQ

Post-translational modifications for POLE2 Gene

  • Ubiquitination at Lys270 and Lys523
  • Modification sites at PhosphoSitePlus

Domains & Families for POLE2 Gene

Gene Families for POLE2 Gene

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

Protein Domains for POLE2 Gene

InterPro:
Blocks:
  • DNA polymerase epsilon subunit B
ProtoNet:

Suggested Antigen Peptide Sequences for POLE2 Gene

GenScript: Design optimal peptide antigens:
  • POLE2 protein (A4FU92_HUMAN)
  • DNA polymerase epsilon subunit B (DPOE2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56282

UniProtKB/Swiss-Prot:

DPOE2_HUMAN :
  • Belongs to the DNA polymerase epsilon subunit B family.
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:
Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity).
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 DNA-directed DNA polymerase activity TAS,IEA --
GO:0005515 protein binding IPI 10801849
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

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

COMPARTMENTS
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
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
cytosol 1

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 IBA,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

PathCards logo

SuperPathways for POLE2 Gene

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
.48
2 Regulation of activated PAK-2p34 by proteasome mediated degradation
.78
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

Pathways by source for POLE2 Gene

1 GeneGo (Thomson Reuters) pathway for POLE2 Gene
  • Cell cycle Transition and termination of DNA replication
2 Qiagen pathways for POLE2 Gene
  • Cell Cycle Control of Chromosomal Replication
  • DNA Repair Mechanisms

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 21873635
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

(7) Drugs for POLE2 Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cladribine Approved, Investigational Pharma Target, inhibitor Apoptosis inducer in CLL cells 105
Cytarabine Approved, Experimental, Investigational Pharma 1335
Phosphoric acid Approved Pharma 0
dATP Experimental Pharma Agonist, Full agonist 0
dctp Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8

(1) ApexBio Compounds for POLE2 Gene

Compound Action Cas Number
Cytarabine 147-94-4
genes like me logo Genes that share compounds with POLE2: view

Drug Products

Transcripts for POLE2 Gene

mRNA/cDNA for POLE2 Gene

5 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for POLE2 Gene

GeneLoc Exon Structure for
POLE2

Expression for POLE2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLE2

SOURCE GeneReport for Unigene cluster for POLE2 Gene:

Hs.162777
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
Chimpanzee
(Pan troglodytes)
Mammalia POLE2 30 31
  • 99.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia POLE2 30 31
  • 92.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia POLE2 30
  • 91.52 (n)
Rat
(Rattus norvegicus)
Mammalia Pole2 30
  • 86.53 (n)
Mouse
(Mus musculus)
Mammalia Pole2 30 17 31
  • 86.27 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia POLE2 31
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia POLE2 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves POLE2 30 31
  • 78.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia POLE2 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pole2 30
  • 76.09 (n)
Str.3481 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.1015 30
Zebrafish
(Danio rerio)
Actinopterygii pole2 30 31
  • 65.4 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6430 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004614 30
  • 50.23 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Pole2 30 31
  • 49.12 (n)
OneToOne
CG10489 32
  • 44 (a)
Worm
(Caenorhabditis elegans)
Secernentea pole-2 30 31
  • 47.19 (n)
OneToOne
F08B4.5 32
  • 30 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPB2 31 33
  • 21 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DPB2 30
  • 48.31 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0160800 30
  • 49.77 (n)
Species where no ortholog for POLE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

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

Paralogs for POLE2 Gene

Pseudogenes.org 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLE2 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
736887 Benign: not provided 49,654,814(-) A/G MISSENSE_VARIANT
782338 Benign: not provided 49,650,348(-) A/G MISSENSE_VARIANT
789058 Benign: not provided 49,666,342(-) C/T SYNONYMOUS_VARIANT
789059 Benign: not provided 49,679,806(-) A/G INTRON_VARIANT
rs34574266 - p.Leu456Val

Additional dbSNP identifiers (rs#s) for POLE2 Gene

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)
POLE2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLE2

SNP Genotyping and Copy Number Assay Products

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

Disorders for POLE2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for POLE2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
holoprosencephaly 2
  • hpe2
colorectal cancer
  • crc
bardet-biedl syndrome 1
  • bbs1
- elite association - COSMIC cancer census association via MalaCards
Search POLE2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for POLE2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with POLE2: view

No data available for 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
  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
  3. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S … Benhamou S (Carcinogenesis 2009) 3 41
  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 23
  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

Products for POLE2 Gene

Sources for POLE2 Gene