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 Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature and Colorectal Cancer 12. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Cell Cycle, Mitotic. Gene Ontology (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.
Additional gene information for POLE Gene
- Monarch Initiative
- Search for POLE at DataMed
- Search for POLE at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLE Gene
Genomics for POLE Gene
GeneHancer (GH) Regulatory Elements for POLE Gene
Promoters and enhancers for POLE 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 POLE on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the POLE gene promoter:
-
- Nkx2-5
- Max1
- c-Myc
- Max
- AML1a
- Evi-1
- ATF-2
Regulatory Element Products
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:
-
- 12q24.33 by Entrez Gene
- 12q24.33 by HGNC
- 12q24.33 by Ensembl
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
Post-translational modifications for POLE Gene
Other Protein References for POLE Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for POLE
- Novus Biologicals Antibodies for POLE
-
Abcam antibodies for POLE
- Invitrogen Antibodies for POLE (AFLGC-POLE)
- GeneTex POLE Antibody 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
- antibodies-online: Search results for available POLE related products ranked by validation data
- Search GeneTex for Proteins for POLE
-
Abcam proteins for POLE
Assay Products
- antibodies-online: Search results for available POLE related products ranked by validation data
No data available for DME Specific Peptides for POLE Gene
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
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 Function:
- Participates in DNA repair and in chromosomal DNA replication.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
Enzyme Numbers (IUBMB) for POLE Gene
Phenotypes From GWAS Catalog 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 |
Phenotypes for POLE Gene
- MGI mutant phenotypes for POLE:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for POLE:
-
- G0/1 arrest
- Increased G1 DNA content
- Increased shRNA abundance (Z-score > 2)
- Decreased homologous recombination repair frequency
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Reduced mammosphere formation
- Decreased shRNA abundance
- Decreased viability
- no effect
- Decreased shRNA abundance (Z-score < -2)
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased NF-kappaB reporter expression
- Mitotic spindle defects
- Synthetic lethal with MLN4924 (a NAE inhibitor)
Animal Model Products
-
Taconic Biosciences Mouse Models for POLE
- Cyagen custom Knockout/knockin (KOKI) mouse models for POLE
-
CRISPR Products
-
OriGene CRISPR knockouts for POLE
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POLE
- genomics-online: gRNA clones - Search results for 61 available POLE gene related products
- Overview of 61 available POLE gene related products
- Applied Biological Materials CRISPR for POLE
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for POLE
- GenScript: Design CRISPR guide RNA sequences for POLE
miRNA for POLE Gene
- miRTarBase miRNAs that target POLE
-
- hsa-mir-193b-3p (MIRT016490)
- hsa-mir-324-5p (MIRT043193)
- hsa-mir-222-3p (MIRT046796)
- hsa-mir-93-5p (MIRT048792)
- hsa-mir-92a-3p (MIRT048946)
- hsa-mir-10b-3p (MIRT735856)
- hsa-mir-2115-5p (MIRT738967)
- hsa-mir-3925-3p (MIRT742996)
- hsa-mir-4790-5p (MIRT748906)
- hsa-mir-488-5p (MIRT749161)
- hsa-mir-515-5p (MIRT749795)
- hsa-mir-519e-5p (MIRT750177)
- hsa-mir-544b (MIRT750443)
- hsa-mir-597-3p (MIRT751614)
- hsa-mir-665 (MIRT753652)
- hsa-mir-6804-5p (MIRT756441)
- hsa-mir-766-3p (MIRT759616)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POLE
- Browse OriGene Inhibitory RNA Products For POLE
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLE
- genomics-online: shRNA clones - Search results for 61 available POLE gene related products
- Overview of 61 available POLE gene related products
Clone Products
- Sino Biological Human cDNA Clone for POLE
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POLE
- Applied Biological Materials Clones for POLE
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
- Nucleus (4)
- Plasma membrane (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 16762037 |
| GO:0005654 | nucleoplasm | IDA,TAS | -- |
| 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
UniProtKB
MINT
IID
GPS-Prot Interaction Network for POLE
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000082 | G1/S transition of mitotic cell cycle | TAS | -- |
| GO:0000278 | mitotic cell cycle | IBA | -- |
| GO:0000731 | DNA synthesis involved in DNA repair | IMP | 1730053 |
| GO:0006260 | DNA replication | IEA,IMP | 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 | 81 | |
| Pembrolizumab | Approved | Pharma | 709 | |||
| Phosphoric acid | Approved | Pharma | 0 | |||
| dATP | Experimental | Pharma | Full agonist, Agonist | 0 | ||
| dctp | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
|||
| Thymidine 5'-triphosphate |
|
365-08-2 |
|
Drug Products
Transcripts for POLE Gene
mRNA/cDNA for POLE Gene
- (5) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (206) Selected AceView cDNA sequences:
- (22) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000541627 2105 bps (uc058vkj.1)
- ENST00000320574 7840 bps (uc001uks.3)
- ENST00000537064 8011 bps (uc058vkk.1)
- ENST00000534922 1660 bps (uc058vkl.1)
- ENST00000535270 6800 bps (uc058vkm.1)
Unigene Clusters for POLE Gene
- Polymerase (DNA directed), epsilon, catalytic subunit:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for POLE
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POLE
- genomics-online: gRNA clones - Search results for 61 available POLE gene related products
- Overview of 61 available POLE gene related products
- Applied Biological Materials CRISPR for POLE
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for POLE
- GenScript: Design CRISPR guide RNA sequences for POLE
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POLE
- Browse OriGene Inhibitory RNA Products For POLE
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLE
- genomics-online: shRNA clones - Search results for 61 available POLE gene related products
- Overview of 61 available POLE gene related products
Clone Products
- Sino Biological Human cDNA Clone for POLE
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POLE
- Applied Biological Materials Clones for POLE
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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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| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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: |
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, 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(2.6)
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
Primer Products
-
OriGene qPCR primer pairs for POLE
- genomics-online: primer clones - Search results for 61 available POLE gene related products
- Overview of 61 available POLE gene related products
Gene Expression Assay Products
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 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | POLE 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | POLE 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | POLE 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Pole 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Pole 16 34 33 |
|
||
| chicken (Gallus gallus) |
Aves | POLE 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | POLE 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pole 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | pole-A 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pole 34 33 |
|
OneToOne | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1164 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | DNApol-epsilon 34 33 |
|
OneToOne | |
| DNApol-&egr; 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004615 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | F33H2.5 34 35 33 |
|
OneToOne | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AFR657C 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C02585g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | POL2 36 34 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | TIL1 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0511900 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU04548 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cdc20 33 |
|
- 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
No data available for Paralogs for POLE Gene
Variants for POLE Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000162996 | likely-benign, not specified, Colorectal cancer, susceptibility to, 12, Hereditary cancer-predisposing syndrome | 132,675,427(-) | C/T | coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant | |
| rs1000861691 | likely-benign, not specified, Colorectal cancer, susceptibility to, 12, Hereditary cancer-predisposing syndrome | 132,661,077(-) | G/A | coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant | |
| rs1002061657 | likely-benign, not specified, Colorectal cancer, susceptibility to, 12 | 132,677,417(-) | T/C | coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant | |
| rs1004972253 | likely-benign, Colorectal cancer, susceptibility to, 12, Hereditary cancer-predisposing syndrome | 132,642,901(-) | G/A/C/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs1006182755 | likely-benign, Hereditary cancer-predisposing syndrome | 132,664,462(-) | C/T | coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_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)
Additional Variant Information for POLE Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLE Gene
Disorders for POLE Gene
(9) MalaCards diseases for POLE Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| facial dysmorphism, immunodeficiency, livedo, and short stature |
|
|
| colorectal cancer 12 |
|
|
| polymerase proofreading-related adenomatous polyposis |
|
|
| endometrioid ovary carcinoma |
|
|
| breast mucinous 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.
Additional Disease Information for POLE
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 … Syväoja JE (The Journal of biological chemistry 1993) 3 4 22 58
- 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 58
- 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 58
- 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 58
- Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. (PMID: 23263490) Palles C … Tomlinson I (Nature genetics 2013) 3 4 58
Products for POLE Gene
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- antibodies-online: Search results for available POLE related products ranked by validation data
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- GeneTex POLE Antibody for POLE
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- Horizon Cell Lines for POLE
- genomics-online: cdna clones - Search results for 61 available POLE gene related products
- Overview of 61 available POLE gene related products
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- Overview of 61 available POLE gene related products
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- Overview of 61 available POLE gene related products
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Sources for POLE Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (14) ProtoNet
- (15) Blocks
- (16) MGI
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- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
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- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
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- (125) NCBI Bookshelf
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- (133) ENCODE
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- (135) Horizon
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- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
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- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
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- (150)