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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]
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 Regulation of activated PAK-2p34 by proteasome mediated degradation and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include nucleic acid binding and chromatin binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA,IDA | 16762037 |
GO:0003682 | chromatin binding | IDA | 16762037 |
GO:0003887 | DNA-directed DNA polymerase activity | IEA,IMP | 16762037 |
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 | IEA,IDA | 10801849 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Telomere C-strand (Lagging Strand) Synthesis |
.67
|
Cell cycle Transition and termination of DNA replication
.48
|
2 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.93
.93
|
.80
.78
|
3 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
4 | DNA Double-Strand Break Repair |
.53
|
|
5 | Nucleotide excision repair |
Nucleotide Excision Repair Pathway
.39
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000082 | G1/S transition of mitotic cell cycle | IMP,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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Cladribine | Approved, Investigational | Pharma | Target, inhibitor | Apoptosis inducer in CLL cells | 105 | |
Pembrolizumab | Approved | Pharma | 1266 | |||
Phosphoric acid | Approved | Pharma | 0 | |||
dATP | Experimental | Pharma | Agonist, Full agonist | 0 | ||
dctp | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | POLE 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | POLE 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | POLE 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | POLE 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pole 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pole 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | POLE 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | POLE 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pole 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | pole-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pole 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1164 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | DNApol-epsilon 30 31 |
|
OneToOne | |
DNApol-&egr; 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004615 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F33H2.5 30 31 32 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR657C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C02585g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | POL2 30 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | TIL1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0511900 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU04548 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cdc20 30 |
|
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 | MISSENSE_VARIANT | |
405860 | Uncertain Significance: Colorectal cancer, susceptibility to, 12 | 132,649,750(-) | TC/GA | MISSENSE_VARIANT | |
576750 | Uncertain Significance: Colorectal cancer, susceptibility to, 12 | 132,643,245(-) | TG/CA | ||
623822 | Conflicting Interpretations: Hereditary cancer-predisposing syndrome; not provided | 132,643,293(-) | CTG/C | FRAMESHIFT_VARIANT | |
638943 | Uncertain Significance: Colorectal cancer, susceptibility to, 12 | 132,676,143(-) | G/A | MISSENSE_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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
facial dysmorphism, immunodeficiency, livedo, and short stature |
|
|
colorectal cancer 12 |
|
|
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency |
|
|
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies |
|
|
polymerase proofreading-related adenomatous polyposis |
|
|