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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
  • EC 2.7.7.7 4 61
  • DPE2 3 4
  • Polymerase (DNA Directed), Epsilon 2, Accessory Subunit 3
  • DNA Polymerase Epsilon Subunit 2 3

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 DNA Double-Strand Break Repair and Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template. 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

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

Genomics for POLE2 Gene

Regulatory Elements for POLE2 Gene

Enhancers for POLE2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G050059 2 FANTOM5 Ensembl ENCODE dbSUPER 13.6 -374.6 -374631 6.9 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 VCPKMT LINC01588 POLE2 KLHDC2 RNU6-189P RHOQP1 RPS29 ATP5S ARF6 RPL36AL
GH14G049584 1.1 ENCODE 22.4 +102.6 102616 4.0 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 CBX5 ZNF207 RPL36AL LRR1 POLE2 VCPKMT KLHDC2 RHOQP1 KLHDC1 RPS29 GC14M049586 GC14M049587
GH14G049879 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.6 -193.8 -193763 6.2 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF143 FOS REST ZNF592 POLE2 VCPKMT RHOQP1 RPS29 ARF6 LINC01588 LRR1 RPL36AL MGAT2 SOS2
GH14G049860 1.8 FANTOM5 ENCODE dbSUPER 13.6 -173.9 -173873 4.6 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC VCPKMT KLHDC1 MAP4K5 POLE2 LINC01588 KLHDC2 RHOQP1 RPS29 LRR1 ARF6
GH14G049766 1.7 FANTOM5 ENCODE dbSUPER 11.4 -80.9 -80889 5.7 FOXA2 PKNOX1 MLX ARNT CREB3L1 AGO1 SIN3A ARID4B FEZF1 DMAP1 RPL36AL RNU6ATAC30P POLE2 KLHDC1 LRR1 KLHDC2 GC14M049783
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POLE2 on UCSC Golden Path with GeneCards custom track

Promoters for POLE2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000068042 522 1401 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ZNF207 SP3

Genomic Location for POLE2 Gene

Chromosome:
14
Start:
49,643,552 bp from pter
End:
49,688,422 bp from pter
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 epsilon DNA polymerase complex consisting of four subunits: POLE, 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

Protein Domains for POLE2 Gene

Suggested Antigen Peptide Sequences for POLE2 Gene

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

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

Enzyme Numbers (IUBMB) 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

miRNA for POLE2 Gene

miRTarBase miRNAs that target POLE2

Inhibitory RNA Products

Flow Cytometry 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

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
peroxisome 2

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
.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

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:0000722 telomere maintenance via recombination TAS --
GO:0006260 DNA replication TAS 9405441
GO:0006261 DNA-dependent DNA replication IBA --
GO:0006270 DNA replication initiation TAS --
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, 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 73
Cytarabine Approved, Investigational Pharma 1117
Phosphoric acid Approved Pharma 0
dctp Experimental Pharma 0
Deoxyadenosine triphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2

(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

Transcripts for POLE2 Gene

Unigene Clusters for POLE2 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for POLE2 Gene

GeneLoc Exon Structure for
POLE2
ECgene alternative splicing isoforms for
POLE2

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, PaxDb, 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:

POLE2

SOURCE GeneReport for Unigene cluster for POLE2 Gene:

Hs.162777
genes like me logo Genes that share expression patterns with POLE2: view

Primer Products

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 34 35
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia POLE2 34 35
  • 92.73 (n)
dog
(Canis familiaris)
Mammalia POLE2 34
  • 91.52 (n)
rat
(Rattus norvegicus)
Mammalia Pole2 34
  • 86.53 (n)
mouse
(Mus musculus)
Mammalia Pole2 34 16 35
  • 86.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia POLE2 35
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLE2 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLE2 34 35
  • 78.05 (n)
lizard
(Anolis carolinensis)
Reptilia POLE2 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pole2 34
  • 76.09 (n)
Str.3481 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.1015 34
zebrafish
(Danio rerio)
Actinopterygii pole2 34 35
  • 65.4 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6430 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004614 34
  • 50.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pole2 34 35
  • 49.12 (n)
CG10489 36
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea pole-2 34 35
  • 47.19 (n)
F08B4.5 36
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPB2 35 37
  • 21 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons DPB2 34
  • 48.31 (n)
rice
(Oryza sativa)
Liliopsida Os05g0160800 34
  • 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

ENSEMBL:
Gene Tree for POLE2 (if available)
TreeFam:
Gene Tree for POLE2 (if available)

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 from dbSNP and Humsavar for POLE2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1057518433 Uncertain significance 49,674,140(-) AGCGA(C/T)ATACC nc-transcript-variant, reference, missense
rs1000072457 -- 49,648,352(+) AGATA(C/T)AATGA intron-variant
rs1000082441 -- 49,667,476(+) AAGTT(A/G)TTCCC intron-variant
rs1000173169 -- 49,677,546(+) CTAGG(C/T)GACCC intron-variant
rs1000364439 -- 49,655,563(+) AACTC(A/T)GTTTT 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)

Relevant External Links for POLE2 Gene

Human Gene Mutation Database (HGMD)
POLE2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLE2

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

Disorders for POLE2 Gene

Relevant External Links for POLE2

Genetic Association Database (GAD)
POLE2
Human Genome Epidemiology (HuGE) Navigator
POLE2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLE2

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. … Syvaeoja J.E. (Nucleic Acids Res. 1998) 2 3 4 64
  2. Purification, cDNA cloning, and gene mapping of the small subunit of human DNA polymerase epsilon. (PMID: 9405441) Li Y. … Linn S. (J. Biol. Chem. 1997) 2 3 4 64
  3. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S. … Benhamou S. (Carcinogenesis 2009) 3 46 64
  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 J.E. (Nucleic Acids Res. 2008) 3 22 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for POLE2 Gene

Sources for POLE2 Gene

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