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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] See more...
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 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.
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).
Additional gene information for POLE Gene
- HGNC(9177)
- Entrez Gene(5426)
- Ensembl(ENSG00000177084)
- OMIM(174762)
- UniProtKB(Q07864)
- Open Targets Platform(ENSG00000177084)
- Monarch Initiative
- Search for POLE at DataMed
- Search for POLE at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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
- chr12:132,623,753-132,687,519
- (GRCh38/hg38)
- Size:
- 63,767 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 HGNC
- 12q24.33 by Entrez Gene
- 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
- 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};
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
- Creative Diagnostics Anti-POLE monoclonal antibody, clone 04I4B
- GeneTex Anti-POLE antibody [3C5.1] and Anti-POLE antibody
-
Custom Antibody ServicesOriGene Antibodies for POLE
- Novus Biologicals Antibodies for POLE
-
Abcam antibodies for POLE
- Invitrogen Antibodies for POLE (AFLGC-POLE)
-
Biorbyt 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
- antibodies-online: Search results for available POLE related products ranked by validation data
-
Abcam proteins for POLE
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
- InterPro:
- Blocks:
-
- DNA polymerase B domain
- Domain of unknown function DUF1744
- 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
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 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.
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={ECO:0000250|UniProtKB:P21951};.
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 | IEA,IDA | 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:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased viability
- Synthetic lethal with Ras
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Reduced mammosphere formation
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased shRNA abundance
- Decreased NF-kappaB reporter expression
- Increased shRNA abundance (Z-score > 2)
- Increased S DNA content
- Mitotic spindle defects
- S arrest
- Increased homologous recombination repair frequency
Animal Model Products
-
Taconic Biosciences Mouse Models for POLE
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for POLE - Select products 50% OFF >
- * POLE CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for POLE
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POLE
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Clone Products
- Applied Biological Materials (abm): Clones for POLE - Select products 50% OFF >
- * POLE as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for POLE
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POLE
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 |
| extracellular | 2 |
| mitochondrion | 2 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| peroxisome | 0 |
- Nucleoplasm (3)
- Plasma membrane (1)
| 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 |
Pathways & Interactions for POLE Gene
| 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
|
|
Pathways by source for POLE Gene
3 BioSystems pathways for POLE Gene
36 Reactome pathways for POLE Gene
3 KEGG pathways 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
Interacting Proteins for POLE Gene
Selected Interacting proteins:
Q07864-DPOE1_HUMAN
ENSP00000322570
for POLE Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for POLE
| 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 | -- |
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 | 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 |
|
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 :
-
- ENST00000320574 7823 nts (view in UCSC)
- ENST00000416953 542 nts (view in UCSC)
- ENST00000434528 3328 nts (view in UCSC)
- ENST00000441786 556 nts (view in UCSC)
- ENST00000503265 1501 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for POLE - Select products 50% OFF >
- * POLE CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for POLE
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POLE
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Clone Products
- Applied Biological Materials (abm): Clones for POLE - Select products 50% OFF >
- * POLE as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for POLE
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POLE
| 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 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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLE
SOURCE GeneReport for Unigene cluster for POLE Gene:
Hs.524871Evidence on tissue expression from TISSUES for POLE Gene
- Blood(4.5)
- Nervous system(3.9)
- Intestine(3.1)
- Skin(2.8)
- Lymph node(2.4)
- Stomach(2.2)
- Liver(2.2)
- Spleen(2.2)
- Bone marrow(2.1)
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
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 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 |
|
- 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 Vase (Ciona intestinalis)
- 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
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 | 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 |
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
(30) MalaCards diseases for POLE Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| 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 |
|
|
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.
- 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
- Open Targets Platform
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 23
- DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. (PMID: 30503519) Logan CV … Jackson AP (American journal of human genetics 2018) 3 4
- 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
- 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
- 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
ExternalLinks
Products for POLE Gene
- Custom Antibody ServicesOriGene Antibodies for POLE
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for POLE
- Origene Custom Protein Services for POLE
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POLE
- Browse OriGene Inhibitory RNA Products For POLE
- OriGene qPCR primer pairs for POLE
- OriGene CRISPR knockouts for POLE
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For POLE
- Sino Biological Human cDNA Clone for POLE
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for POLE
- Novus Biologicals proteins and lysates for POLE
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for POLE
- Abcam proteins for POLE
- Find your target
- Browse Primary Antibodies
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- Taconic Biosciences Mouse Models for POLE
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for POLE (AFLGC-POLE)
- VectorBuilder Custom and pre-made DNA vectors for POLE (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for POLE (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for POLE (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for POLE CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for POLE
- antibodies-online: Show 118 available POLE Antibodies ranked by validation data
- Compare Top POLE Antibodies
- antibodies-online: Search results for available POLE related products ranked by validation data
- antibodies-online: Search results for available POLE related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for POLE
- Search Santa Cruz Biotechnology (SCBT) for POLE siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for POLE
- Horizon Cell Lines for POLE
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POLE
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POLE
- Search GeneCopoeia for miRNA 3'UTR Target clone products for POLE
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLE
- Biorbyt antibodies for POLE
Sources for POLE Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB