Aliases for POLE Gene
Aliases for POLE Gene
External Ids for POLE Gene
- HGNC: 9177
- Entrez Gene: 5426
- Ensembl: ENSG00000177084
- OMIM: 174762
- UniProtKB: Q07864
Previous GeneCards Identifiers for POLE Gene
- GC12U990073
- GC12P132569
- GC12M132825
- GC12M131439
- GC12M131810
- GC12M131710
- GC12M133200
- GC12M129980
Summaries 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]
GeneCards Summary for POLE Gene
POLE (DNA Polymerase Epsilon, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLE include Fils Syndrome and Colorectal Cancer 12. 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 nucleic acid binding and chromatin binding.
UniProtKB/Swiss-Prot for POLE Gene
-
Participates in DNA repair and in chromosomal DNA replication.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLE Gene
Genomics for POLE Gene
Regulatory Elements for POLE Gene
Enhancers for POLE 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 |
|---|---|---|---|---|---|---|---|---|
| GH12G132622 | 1.2 | Ensembl ENCODE | 37.6 | +64.7 | 64656 | 1.7 | PKNOX1 NFIB AGO1 INSM2 SIN3A ZBTB7B FOS RCOR1 CREM ZNF263 | POLE ANKLE2 ENSG00000280311 P2RX2 |
| GH12G132600 | 1.5 | FANTOM5 Ensembl ENCODE | 22.7 | +85.3 | 85342 | 4.3 | ARID4B SIN3A ZNF48 YY1 GLIS2 ZNF143 KLF13 MXD4 REST KAT8 | POLE PXMP2 ENSG00000256632 LRCOL1 P2RX2 ZNF10 GOLGA3 LOC105370094 |
| GH12G132686 | 1.1 | ENCODE | 29.2 | +0.3 | 286 | 2.1 | PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 KLF13 | POLE GC12M132685 |
| GH12G132709 | 1.1 | ENCODE | 25.6 | -23.2 | -23214 | 2.4 | ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 | POLE ZNF605 ZNF140 ANKLE2 ZNF10 GOLGA3 EP400 ZNF84 LRCOL1 PIR53044 |
| GH12G132657 | 0.6 | ENCODE | 37.7 | +26.8 | 26773 | 6.8 | CTCF POLR2A MAX MNT ZBTB33 RAD21 | POLE PGAM5 ANKLE2 GC12M132685 PIR54548 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around POLE on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the POLE gene promoter:
Regulatory Element Products
Genomic Location for POLE Gene
- Chromosome:
- 12
- Start:
- 132,623,753 bp from pter
- End:
- 132,687,524 bp from pter
- Size:
- 63,772 bases
- Orientation:
- Minus strand
Genomic View for POLE Gene
Genes around POLE on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.33 by Ensembl
- 12q24.33 by Entrez Gene
- 12q24.33 by HGNC
POLE Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q13533
- Q86VH9
Protein attributes for POLE Gene
- Size:
- 2286 amino acids
- Molecular mass:
- 261518 Da
- Cofactor:
- Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
- Quaternary structure:
-
- Catalytic and central component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4. Interacts with RAD17 and TOPBP1.
- SequenceCaution:
-
- Sequence=AAA15448.1; Type=Frameshift; Positions=443, 448; Evidence={ECO:0000305}; Sequence=AAA15448.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};
Protein Expression 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
Other Protein References for POLE Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for POLE
-
Custom Antibody ServicesOriGene Antibodies for POLE
- Novus Biologicals Antibodies for POLE
- Invitrogen Antibodies for POLE
- antibodies-online Antibodies for POLE: See all 25
- Search GeneTex for Antibodies for POLE
-
Santa Cruz Biotechnology (SCBT) Antibodies for POLE
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for POLE
- Origene Custom Protein Services for POLE
- Search GeneTex for Proteins for POLE
Assay Products
Domains & Families for POLE Gene
Gene Families for POLE Gene
- HGNC:
Protein Domains for POLE Gene
Suggested Antigen Peptide Sequences for POLE Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q07864UniProtKB/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 complexing subunits B and C. The C-terminus may also regulate the catalytic activities of the enzyme.
- 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 complexing subunits B and C. The C-terminus may also regulate the catalytic activities of the enzyme.
- 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.
Function for POLE Gene
Molecular function for POLE Gene
- 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 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 | IMP,IEA | 16762037 |
Phenotypes for POLE Gene
- MGI mutant phenotypes for POLE:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for POLE:
-
- Mitotic spindle defects
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased shRNA abundance (Z-score < -2)
- Decreased NF-kappaB reporter expression
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Increased G1 DNA content
- G0/1 arrest
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased homologous recombination repair frequency
- Decreased shRNA abundance
Animal Model Products
-
Taconic Biosciences Mouse Models for POLE
- Cyagen custom Knockout/knockin (KOKI) mouse models for POLE
-
-
ViGene Biosciences lentiviral particle packaged cDNA for POLE gene
-
ViGene Biosciences ready-to-package AAV shRNAs for POLE gene
- Search ViGene Biosciences for POLE
CRISPR Products
-
OriGene CRISPR knockouts for POLE
-
Santa Cruz Biotechnology (SCBT) CRISPR for POLE
- GenScript: Design CRISPR guide RNA sequences for POLE
miRNA for POLE Gene
- miRTarBase miRNAs that target POLE
miRNA Products
- Search ViGene Biosciences for POLE
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for POLE
- Browse OriGene Inhibitory RNA Products For POLE
-
ViGene Biosciences ready-to-package AAV shRNAs for POLE gene
Clone Products
-
OriGene ORF clones in human for POLE
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for POLE
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for POLE
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for POLE
-
ViGene Biosciences adenoviral particle packaged cDNA for POLE gene
-
ViGene Biosciences lentiviral particle packaged cDNA for POLE gene
-
ViGene Biosciences ready-to-package AAV shRNAs for POLE gene
Flow Cytometry 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
- Nucleus.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 3 |
| mitochondrion | 1 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 16762037 |
| GO:0005654 | nucleoplasm | TAS,IDA | -- |
| GO:0005886 | plasma membrane | IDA | -- |
| GO:0008622 | epsilon DNA polymerase complex | IDA,IEA | 10801849 |
Pathways & Interactions for POLE Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Telomere C-strand (Lagging Strand) Synthesis |
.67
|
|
| 2 | CDK-mediated phosphorylation and removal of Cdc6 |
.93
.93
|
.80
.78
|
| 3 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
| 4 | DNA Double-Strand Break Repair |
.53
|
|
| 5 | Nucleotide excision repair | ||
Pathways by source for POLE Gene
3 BioSystems pathways for POLE Gene
36 Reactome pathways for POLE Gene
7 KEGG pathways for POLE Gene
1 GeneGo (Thomson Reuters) pathway for POLE Gene
4 Qiagen pathways for POLE Gene
Interacting Proteins for POLE Gene
Selected Interacting proteins:
ENSP00000322570
Q07864-DPOE1_HUMAN
for POLE Gene via
STRING
MINT
IID
UniProtKB
| 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:0000731 | DNA synthesis involved in DNA repair | IMP | 1730053 |
| GO:0006260 | DNA replication | IMP,IEA | 16762037 |
| GO:0006270 | DNA replication initiation | TAS | -- |
No data available for SIGNOR curated interactions for POLE Gene
Drugs & Compounds for POLE Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Cladribine | Approved, Investigational | Pharma | Target, inhibitor | Apoptosis inducer in CLL cells | 73 | |
| Phosphoric acid | Approved | Pharma | 0 | |||
| dctp | Experimental | Pharma | 0 | |||
| Deoxyadenosine triphosphate | Experimental | Pharma | 0 | |||
| dgtp | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
|||
| Thymidine 5'-triphosphate |
|
365-08-2 |
|
Transcripts for POLE Gene
mRNA/cDNA for POLE Gene
- (7) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (206) Selected AceView cDNA sequences:
- (22) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for POLE Gene
CRISPR Products
-
OriGene CRISPR knockouts for POLE
-
Santa Cruz Biotechnology (SCBT) CRISPR for POLE
- GenScript: Design CRISPR guide RNA sequences for POLE
miRNA Products
- Search ViGene Biosciences for POLE
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for POLE
- Browse OriGene Inhibitory RNA Products For POLE
-
ViGene Biosciences ready-to-package AAV shRNAs for POLE gene
Clone Products
-
OriGene ORF clones in human for POLE
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for POLE
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for POLE
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| 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: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
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| 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: |
Expression for POLE Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
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).
This gene is overexpressed in Lavage (49.0) and Monocytes (13.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for POLE Gene
NURSA nuclear receptor signaling pathways regulating expression of POLE Gene:
POLESOURCE GeneReport for Unigene cluster for POLE Gene:
Hs.524871Evidence on tissue expression from TISSUES for POLE Gene
- Blood(4.3)
- Nervous system(3.4)
- Intestine(2.5)
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
Organs:
Head and neck:
- cheek
- face
- forehead
- head
- jaw
- maxilla
- mouth
- skull
General:
- blood
- blood vessel
- bone marrow
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for POLE
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | POLE 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | POLE 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | POLE 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | POLE 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Pole 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Pole 34 16 35 |
|
||
| chicken (Gallus gallus) |
Aves | POLE 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | POLE 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pole 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | pole-A 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pole 34 35 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1164 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | DNApol-epsilon 34 35 |
|
||
| DNApol-egr 36 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004615 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | F33H2.5 36 34 35 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AFR657C 34 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C02585g 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | POL2 34 35 37 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | TIL1 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0511900 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU04548 34 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cdc20 34 |
|
- 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)
Paralogs for POLE Gene
(2) SIMAP similar genes for POLE Gene using alignment to 9 proteins:
No data available for Paralogs for POLE Gene
Variants for POLE Gene
| SNP ID | Clin | Chr 12 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs483352909 | other, Colorectal cancer 12 (CRCS12) [MIM:615083] | 132,673,664(-) | ATAAT(C/G/T)TCAAG | nc-transcript-variant, upstream-variant-2KB, reference, missense | |
| VAR_069343 | Colorectal cancer 12 (CRCS12) [MIM:615083] | ||||
| VAR_077350 | Colorectal cancer 12 (CRCS12) [MIM:615083] | ||||
| rs398122515 | Pathogenic | 132,643,404(-) | CAGGT(A/G)TGGCC | intron-variant | |
| rs1057517612 | Likely benign | 132,642,493(-) | CAGTA(C/T)TGTCG | intron-variant |
| 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 |
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)
Relevant External Links for POLE Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLE Gene
Disorders for POLE Gene
(8) MalaCards diseases for POLE Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fils syndrome |
|
|
| colorectal cancer 12 |
|
|
| polymerase proofreading-related adenomatous polyposis |
|
|
| colorectal cancer susceptibility 12 |
|
|
| endometrioid ovary carcinoma |
|
|
Search POLE in MalaCards
View complete list of genes associated with diseases
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.
Relevant External Links for POLE
No data available for Genatlas for POLE Gene
Publications for POLE Gene
- Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase epsilon. (PMID: 8486689) Kesti T. … Syvaeoja J.E. (J. Biol. Chem. 1993) 3 4 22 64
- New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. (PMID: 24501277) Valle L. … Blanco I. (Hum. Mol. Genet. 2014) 3 4 64
- Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. (PMID: 23263490) Palles C. … Tomlinson I. (Nat. Genet. 2013) 3 4 64
- Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome). (PMID: 23230001) Pachlopnik Schmid J. … de Saint Basile G. (J. Exp. Med. 2012) 3 4 64
- Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PMID: 20496165) Monsees G.M. … Han J. (Breast Cancer Res. Treat. 2011) 3 46 64
Products for POLE Gene
- Browse R&D Systems for Antibodies
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for POLE Gene
- (1) GeneCards
- (2) HGNC
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- (4) Swiss-Prot
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- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
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- (82) GeneGo (Thomson Reuters)
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