This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013] See more...

Aliases for POLE Gene

Aliases for POLE Gene

  • DNA Polymerase Epsilon, Catalytic Subunit 2 3 5
  • DNA Polymerase Epsilon Catalytic Subunit A 2 3 4
  • Polymerase (DNA) Epsilon, Catalytic Subunit 2 3
  • DNA Polymerase II Subunit A 3 4
  • EC 2.7.7.7 4 52
  • POLE1 3 4
  • Polymerase (DNA Directed), Epsilon, Catalytic Subunit 3
  • DNA Polymerase Epsilon Catalytic Subunit Protein 3
  • Polymerase (DNA Directed), Epsilon 2
  • 3'-5' Exodeoxyribonuclease 4
  • EC 3.1.11.- 4
  • EC 2.7.7 52
  • CRCS12 3
  • IMAGEI 3
  • FILS 3

External Ids for POLE Gene

Previous GeneCards Identifiers for POLE Gene

  • GC12U990073
  • GC12P132569
  • GC12M132825
  • GC12M131439
  • GC12M131810
  • GC12M131710
  • GC12M133200
  • GC12M129980

Summaries for POLE Gene

Entrez Gene Summary for POLE Gene

  • This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]

CIViC Summary for POLE Gene

GeneCards Summary for POLE Gene

POLE (DNA Polymerase Epsilon, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLE include Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature and Colorectal Cancer 12. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Homologous DNA Pairing and Strand Exchange. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and chromatin binding.

UniProtKB/Swiss-Prot Summary for POLE Gene

  • Catalytic component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication origins and moves along DNA with the replication fork (By similarity). Has 3'-5' proofreading exonuclease activity that corrects errors arising during DNA replication (By similarity). Involved in DNA synthesis during DNA repair (PubMed:20227374, PubMed:27573199). Along with DNA polymerase POLD1 and DNA polymerase POLK, has a role in excision repair (NER) synthesis following UV irradiation (PubMed:20227374).

Gene Wiki entry for POLE Gene

Additional gene information for POLE Gene

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

Genomics for POLE Gene

GeneHancer (GH) Regulatory Elements for POLE Gene

Promoters and enhancers for POLE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J132686 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 529.1 -0.1 -118 4.9 RXRA EP300 SIN3A TCF12 POLR2G SP1 PHF8 ZFX ZIC2 POLR2A POLE ENSG00000256632 PXMP2 lnc-ANKLE2-3 ZNF605 ZNF140 ZNF84 ZNF268 ANKLE2 CHFR
GH12J132709 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 525.6 -23.5 -23546 3.1 ZBTB40 ZNF217 EP300 SIN3A POLR2G SP1 PHF8 ZFX ZIC2 POLR2A POLE PGAM5 lnc-ANKLE2-2 piR-47205 piR-50443-097 ANKLE2 ZNF140 ZNF605 ENSG00000255933 ZNF10
GH12J132618 Promoter 1.2 EPDnew Ensembl 33.7 +68.9 68924 0.8 ZIC2 ZBTB26 EZH2 SP2 ZNF76 POLR2G PHF8 TCF12 KLF8 E2F6 P2RX2 POLE ANKLE2 LRCOL1
GH12J132657 Promoter/Enhancer 1.1 Ensembl ENCODE 37.7 +26.9 26854 6.9 CTCF POLR2A POLR2G SPI1 GABPA RAD21 NFATC1 BCL3 MAX DACH1 POLE PGAM5 ANKLE2 RF00017-1347 piR-33549
GH12J132622 Enhancer 1 Ensembl ENCODE 37.6 +64.6 64623 2.2 ZNF217 FOS ZFX ZIC2 ZBTB10 CLOCK CHD1 ATF2 CTBP1 ZNF341 ENSG00000280311 POLE ANKLE2 P2RX2 lnc-LRCOL1-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLE on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the POLE gene promoter:
  • AML1a
  • ATF-2
  • c-Myc
  • Evi-1
  • Max
  • Max1
  • Nkx2-5

Genomic Locations for POLE Gene

Genomic Locations for POLE Gene
chr12:132,623,753-132,687,524
(GRCh38/hg38)
Size:
63,772 bases
Orientation:
Minus strand
chr12:133,200,348-133,263,951
(GRCh37/hg19)
Size:
63,604 bases
Orientation:
Minus strand

Genomic View for POLE Gene

Genes around POLE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for POLE Gene

Proteins for POLE Gene

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

    Protein Symbol:
    Q07864-DPOE1_HUMAN
    Recommended name:
    DNA polymerase epsilon catalytic subunit A
    Protein Accession:
    Q07864
    Secondary Accessions:
    • Q13533
    • Q86VH9

    Protein attributes for POLE Gene

    Size:
    2286 amino acids
    Molecular mass:
    261518 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. Interacts with RAD17 and TOPBP1.
    SequenceCaution:
    • Sequence=AAA15448.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAA15448.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for POLE Gene

neXtProt entry for POLE Gene

Selected DME Specific Peptides for POLE Gene

Q07864:
  • DTDGIWC
  • ILNSFYGY
  • KKRYAVFN
  • YSVSDAVATY
  • ENSIFFE
  • LYDSLQLAHK
  • LITNREI
  • PDEVLRKG
  • LAFDIET
  • NGDFFDWPF
  • DGSLAELKGFE
  • VMRKGAR
  • ELKGFEVKRRGEL
  • ETYVGGHVE
  • NREIVSEDI
  • MMISYMIDG

Post-translational modifications for POLE Gene

  • Ubiquitination at Lys431, Lys2110, and Lys2124
  • Modification sites at PhosphoSitePlus

Domains & Families for POLE Gene

Gene Families for POLE Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for POLE Gene

Blocks:
  • DNA polymerase B domain
  • Domain of unknown function DUF1744
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POLE Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ35684 fis, clone SPLEN2019169, highly similar to DNA polymerase epsilon, catalytic subunit A (B3KS74_HUMAN)
  • Polymerase (DNA directed), epsilon, isoform CRA_a (D3DXI9_HUMAN)
  • DNA polymerase II subunit A (DPOE1_HUMAN)
  • DNA polymerase (E7ENR1_HUMAN)
  • DNA polymerase (E7ETS8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q07864

UniProtKB/Swiss-Prot:

DPOE1_HUMAN :
  • The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is necessary for maintenance of the complex.
  • Belongs to the DNA polymerase type-B family.
Domain:
  • The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is necessary for maintenance of the complex.
  • The CysA-type zinc finger is required for PCNA-binding.
  • The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.
Family:
  • Belongs to the DNA polymerase type-B family.
genes like me logo Genes that share domains with POLE: view

Function for POLE Gene

Molecular function for POLE Gene

UniProtKB/Swiss-Prot Function:
Catalytic component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication origins and moves along DNA with the replication fork (By similarity). Has 3'-5' proofreading exonuclease activity that corrects errors arising during DNA replication (By similarity). Involved in DNA synthesis during DNA repair (PubMed:20227374, PubMed:27573199). Along with DNA polymerase POLD1 and DNA polymerase POLK, has a role in excision repair (NER) synthesis following UV irradiation (PubMed:20227374).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:11130, Rhea:RHEA-COMP:11131, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:83828; EC=2.7.7.7; Evidence=. ;.

Enzyme Numbers (IUBMB) for POLE Gene

Phenotypes From GWAS Catalog for POLE Gene

Gene Ontology (GO) - Molecular Function for POLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IDA,IEA 16762037
GO:0003682 chromatin binding IDA 16762037
GO:0003887 DNA-directed DNA polymerase activity IEA,IMP 16762037
genes like me logo Genes that share ontologies with POLE: view
genes like me logo Genes that share phenotypes with POLE: view

Human Phenotype Ontology for POLE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for POLE

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for POLE Gene

Localization for POLE Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLE 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 POLE gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16762037
GO:0005654 nucleoplasm IDA,TAS --
GO:0005886 plasma membrane IDA --
GO:0008622 epsilon DNA polymerase complex IDA,IEA 10801849
genes like me logo Genes that share ontologies with POLE: view

Pathways & Interactions for POLE Gene

genes like me logo Genes that share pathways with POLE: view

Pathways by source for POLE Gene

1 GeneGo (Thomson Reuters) pathway for POLE Gene
  • Cell cycle Transition and termination of DNA replication
4 Qiagen pathways for POLE Gene
  • Cell Cycle Control of Chromosomal Replication
  • DNA Repair Mechanisms
  • Mismatch Repair in Eukaryotes
  • Nucleotide Excision Repair Pathway

Gene Ontology (GO) - Biological Process for POLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle IBA 21873635
GO:0000731 DNA synthesis involved in DNA repair IMP 1730053
GO:0006260 DNA replication IEA,IMP 16762037
GO:0006270 DNA replication initiation TAS --
genes like me logo Genes that share ontologies with POLE: view

No data available for SIGNOR curated interactions for POLE Gene

Drugs & Compounds for POLE Gene

(11) Drugs for POLE Gene - From: DrugBank, ClinicalTrials, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cladribine Approved, Investigational Pharma Target, inhibitor Apoptosis inducer in CLL cells 101
Pembrolizumab Approved Pharma 1134
Phosphoric acid Approved Pharma 0
dATP Experimental Pharma Full agonist, Agonist 0
dctp Experimental Pharma 0

(2) Additional Compounds for POLE 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
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • Deoxy-TTP
  • Deoxythymidine 5'-triphosphate
  • Deoxythymidine triphosphate
365-08-2
genes like me logo Genes that share compounds with POLE: view

Transcripts for POLE Gene

mRNA/cDNA for POLE Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^
SP1: - - -
SP2: - -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 43 ^ 44a · 44b ^ 45a · 45b ^ 46a · 46b · 46c ^ 47a · 47b ^ 48a · 48b ^ 49 ^ 50 ^ 51a · 51b · 51c
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5:
SP6: - - -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for POLE Gene

GeneLoc Exon Structure for
POLE

Expression for POLE Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POLE Gene

This gene is overexpressed in Brain - Cerebellum (x4.5) and Brain - Cerebellar Hemisphere (x4.3).

Protein differential expression in normal tissues from HIPED for POLE Gene

This gene is overexpressed in Lavage (49.0) and Monocytes (13.2).

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



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

SOURCE GeneReport for Unigene cluster for POLE Gene:

Hs.524871

Evidence on tissue expression from TISSUES for POLE Gene

  • Blood(4.3)
  • Nervous system(3.4)
  • Intestine(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POLE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • respiratory
  • skeleton
Regions:
Head and neck:
  • cheek
  • face
  • forehead
  • head
  • jaw
  • maxilla
  • mouth
  • skull
General:
  • blood
  • blood vessel
  • bone marrow
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with POLE: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for POLE Gene

Orthologs for POLE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLE 30
  • 99.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 98 (a)
OneToMany
-- 31
  • 97 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
-- 31
  • 86 (a)
OneToMany
cow
(Bos Taurus)
Mammalia POLE 31 30
  • 88.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia POLE 31 30
  • 88.11 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLE 31
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pole 30
  • 86.19 (n)
mouse
(Mus musculus)
Mammalia Pole 17 31 30
  • 86.13 (n)
chicken
(Gallus gallus)
Aves POLE 31 30
  • 79.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLE 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pole 30
  • 73.01 (n)
African clawed frog
(Xenopus laevis)
Amphibia pole-A 30
zebrafish
(Danio rerio)
Actinopterygii pole 31 30
  • 73.72 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1164 30
fruit fly
(Drosophila melanogaster)
Insecta DNApol-epsilon 31 30
  • 60.35 (n)
OneToOne
DNApol-&egr; 32
  • 40 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004615 30
  • 57.36 (n)
worm
(Caenorhabditis elegans)
Secernentea F33H2.5 31 32 30
  • 51.63 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR657C 30
  • 50.04 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C02585g 30
  • 49.78 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POL2 33 31 30
  • 48.91 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons TIL1 30
  • 50.54 (n)
rice
(Oryza sativa)
Liliopsida Os02g0511900 30
  • 50.76 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 57 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04548 30
  • 53.73 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc20 30
  • 48.64 (n)
Species where no ortholog for POLE was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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 POLE Gene

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

Paralogs for POLE Gene

(2) SIMAP similar genes for POLE Gene using alignment to 9 proteins:

  • DPOE1_HUMAN
  • D3DXI9_HUMAN
  • F5H0H8_HUMAN
  • F5H1D6_HUMAN
  • F5H3W5_HUMAN
  • F5H5Q5_HUMAN
  • F5H7E4_HUMAN
  • F5H7H6_HUMAN
  • Q96IE1_HUMAN
genes like me logo Genes that share paralogs with POLE: view

No data available for Paralogs for POLE Gene

Variants for POLE Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLE Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
405615 Uncertain Significance: Colorectal cancer, susceptibility to, 12 132,632,393(-) TG/CA
405860 Uncertain Significance: Colorectal cancer, susceptibility to, 12 132,649,750(-) TC/GA
576750 Uncertain Significance: Colorectal cancer, susceptibility to, 12 132,643,245(-) TG/CA
623822 Likely Pathogenic: not provided 132,643,293(-) CTG/C FRAMESHIFT_VARIANT
638943 Uncertain Significance: Colorectal cancer, susceptibility to, 12 132,676,143(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for POLE Gene

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

Variant ID Type Subtype PubMed ID
esv1667239 CNV deletion 17803354
esv2422284 CNV deletion 17116639
esv2665414 CNV deletion 23128226
esv2747031 CNV deletion 23290073
esv2747032 CNV deletion 23290073
esv3367737 CNV duplication 20981092
esv3631307 CNV loss 21293372
esv3631308 CNV gain 21293372
nsv1037074 CNV gain 25217958
nsv1047500 CNV gain 25217958
nsv512304 CNV loss 21212237
nsv561109 CNV loss 21841781
nsv561110 CNV loss 21841781
nsv820101 CNV loss 19587683
nsv952512 CNV deletion 24416366

Variation tolerance for POLE Gene

Residual Variation Intolerance Score: 2.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.99; 87.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLE Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for POLE Gene

MalaCards: The human disease database

(25) MalaCards diseases for POLE Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

DPOE1_HUMAN
  • Colorectal cancer 12 (CRCS12) [MIM:615083]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable. {ECO:0000269 PubMed:23263490, ECO:0000269 PubMed:24501277, ECO:0000269 PubMed:25860647, ECO:0000269 PubMed:27573199}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) [MIM:615139]: A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood. {ECO:0000269 PubMed:23230001}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency (IMAGEI) [MIM:618336]: An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth failure, metaphyseal dysplasia, adrenal hypoplasia congenita, growth hormone deficiency, genital anomalies, and immunodeficiency resulting in increased infections. {ECO:0000269 PubMed:30503519}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for POLE

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

No data available for Genatlas for POLE Gene

Publications for POLE Gene

  1. Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase epsilon. (PMID: 8486689) Kesti T … Syväoja JE (The Journal of biological chemistry 1993) 3 4 23 54
  2. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. (PMID: 30503519) Logan CV … Jackson AP (American journal of human genetics 2018) 3 4 54
  3. The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy. (PMID: 27612425) Ahn SM … Jang SJ (Oncotarget 2016) 3 4 54
  4. A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. (PMID: 25860647) Hansen MF … Sjursen W (Familial cancer 2015) 3 4 54
  5. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. (PMID: 24501277) Valle L … Blanco I (Human molecular genetics 2014) 3 4 54

Products for POLE Gene

Sources for POLE Gene