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POLE Gene

protein-coding GIFtS: 71
GCID: GC12M133200

Polymerase (DNA Directed), Epsilon, Catalytic Subunit

(Previous names: polymerase (DNA directed), epsilon)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Polymerase (DNA Directed), Epsilon, Catalytic Subunit¹ ²		CRCS12² ⁵
POLE1² ³ ⁵		FILS² ⁵
DNA Polymerase Epsilon Catalytic Subunit A¹ ²		Polymerase (DNA Directed), Epsilon¹
DNA Polymerase II Subunit A² ³		EC 2.7.7⁸
EC 2.7.7.7³ ⁸

External Ids:	HGNC: 9177¹	Entrez Gene: 5426²	Ensembl: ENSG00000177084⁷	OMIM: 174762⁵	UniProtKB: Q07864³

Export aliases for POLE gene to outside databases

Previous GC identifers: GC12U990073 GC12P132569 GC12M132825 GC12M131439 GC12M131810 GC12M131710 GC12M129980

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for POLE Gene:

This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and

chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial

dysmorphism, immunodeficiency, livedo, and short stature. (provided by RefSeq, Sep 2013)

GeneCards Summary for POLE Gene:

POLE (polymerase (DNA directed), epsilon, catalytic subunit) is a protein-coding gene. Diseases associated with POLE include fils syndrome, and colorectal cancer 12. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and chromatin binding.

UniProtKB/Swiss-Prot: DPOE1_HUMAN, Q07864

Function: Participates in DNA repair and in chromosomal DNA replication

Gene Wiki entry for POLE Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000012.12 NC_018923.2 NT_024477.15

Regulatory elements:

Regulatory transcription factor binding sites in the POLE gene promoter:
Max Max1 AML1a ATF-2 Nkx2-5 Evi-1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): POLE promoter sequence

Search Chromatin IP Primers for POLE

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POLE

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.3 Ensembl cytogenetic band: 12q24.33 HGNC cytogenetic band: 12q24.3

POLE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLE gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M133200: view genomic region (about GC identifiers)

Start:	133,200,348 bp from pter	End:	133,263,951 bp from pter
Size:	63,604 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DPOE1_HUMAN, Q07864 (See protein sequence)

Recommended Name: DNA polymerase epsilon catalytic subunit A

Size: 2286 amino acids; 261518 Da

Cofactor: Binds 1 4Fe-4S cluster (By similarity)

Subunit: Catalytic and central component of the epsilon DNA polymerase complex consisting of four subunits: POLE,

POLE2, POLE3 and POLE4. Interacts with RAD17 and TOPBP1

Sequence caution: Sequence=AAA15448.1; Type=Frameshift; Positions=443, 448; Sequence=AAA15448.1;

Type=Miscellaneous discrepancy;

Secondary accessions: Q13533 Q86VH9

Explore the universe of human proteins at neXtProt for POLE: NX_Q07864

Explore proteomics data for POLE at MOPED

Post-translational modifications:

Ubiquitination² at Lys431, Lys2110, Lys2124

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for POLE (Q07864) (see all 16)

LITNREI

DTDGIWC

VMRKGAR

LAFDIET

See POLE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_006222.2

ENSEMBL proteins:

ENSP00000322570 ENSP00000442578 ENSP00000445753 ENSP00000442519 ENSP00000439052

ENSP00000439842 ENSP00000443213

Reactome Protein details: Q07864

POLE Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom MassSpec OriGene Custom Protein Services for POLE
	GenScript Custom Purified and Recombinant Proteins Services for POLE
	Novus Biologicals POLE Protein Novus Biologicals POLE Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.

POLE Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	OriGene Antibodies for POLE OriGene Custom Antibody Services for POLE
	Novus Biologicals POLE Antibodies
	Abcam antibodies for POLE
	Browse Antibodies at Cloud-Clone Corp.
	ThermoFisher Antibody for POLE
	LSBio Antibodies in human, mouse, rat for POLE

POLE Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for POLE
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for POLE
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

POL: DNA polymerases

5 InterPro protein domains:

IPR006172 DNA-dir_DNA_pol_B

IPR006133 DNA-dir_DNA_pol_B_exonuc

IPR006134 DNA-dir_DNA_pol_B_multi_dom

IPR013697 DNA_pol_e_suA_C

IPR012337 RNaseH-like_dom

Graphical View of Domain Structure for InterPro Entry Q07864

ProtoNet protein and cluster: Q07864

2 Blocks protein domains:

IPB006134 DNA polymerase B domain

IPB013697 Domain of unknown function DUF1744

UniProtKB/Swiss-Prot: DPOE1_HUMAN, Q07864

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

Domain: The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes (By

similarity)

Similarity: Belongs to the DNA polymerase type-B family

Similarity: Contains 1 CysA-type zinc finger

POLE for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: DPOE1_HUMAN, Q07864

Function: Participates in DNA repair and in chromosomal DNA replication

Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

Enzyme Numbers (IUBMB): EC 2.7.7.7¹ ² EC 2.7.7²

Gene Ontology (GO): Selected molecular function terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003676	nucleic acid binding	--	--
GO:0003677	DNA binding	IDA	16762037
GO:0003682	chromatin binding	IDA	16762037
GO:0003887	DNA-directed DNA polymerase activity	IMP	16762037

POLE for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for POLE:

Increased S DNA content

S arrest

Synthetic lethal with Ras

5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Pole):

hematopoietic system

immune system

integument

mortality/aging

tumorigenesis

POLE for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POLE

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for POLE

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POLE

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POLE

miRNA Products:		miRTarBase miRNAs that target POLE: hsa-mir-92a-3p (MIRT048946), hsa-mir-93-5p (MIRT048792), hsa-mir-222-3p (MIRT046796), hsa-mir-324-5p (MIRT043193), hsa-mir-193b-3p (MIRT016490)

		Block miRNA regulation of human, mouse, rat POLE using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate POLE
		SwitchGear 3'UTR luciferase reporter plasmid: POLE 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for POLE
		Predesigned siRNA for gene silencing in human, mouse, rat POLE

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for POLE

Clone Products:		OriGene clones in human, mouse for POLE (see all 6) OriGene ORF clones in mouse, rat for POLE OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: POLE (NM_006231)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLE
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLE

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for POLE
		Browse ESI BIO Cell Lines and PureStem Progenitors for POLE

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLE

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

DPOE1_HUMAN, Q07864: Nucleus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
chloroplast	2
mitochondrion	2
cytosol	1
extracellular	1
peroxisome	1
plasma membrane	1

About this image

Gene Ontology (GO): Selected cellular component terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005886	plasma membrane	IDA	--

POLE for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for POLE About (see all 17)

See pathways by source

SuperPath

Contained pathways About

Telomere C-strand (Lagging Strand) Synthesis

Gap-filling DNA repair synthesis and ligation in TC-NER	0.94	Mismatch Repair in Eukaryotes	0.54
Repair synthesis of patch ~27-30 bases long by DNA polymerase	0.94	Cell cycle Transition and termination of DNA replication	0.43
Telomere C-strand (Lagging Strand) Synthesis	0.79	Repair synthesis for gap-filling by DNA polymerase in TC-NER	0.00
Extension of Telomeres	0.79	Gap-filling DNA repair synthesis and ligation in GG-NER	0.00

Global Genomic NER (GG-NER)

	Global Genomic NER (GG-NER)	0.69			Nucleotide Excision Repair Pathway	0.48
	Nucleotide excision repair	0.69

E2F mediated regulation of DNA replication

	Mitotic G1-G1/S phases	0.81			G1 to S cell cycle control	0.35
	G1/S Transition	0.81

Activation of the pre-replicative complex

Activation of the pre-replicative complex

0.66

DNA Replication

0.66

CDK-mediated phosphorylation and removal of Cdc6

Synthesis of DNA	0.92	DNA Replication Pre-Initiation	0.81
DNA Replication	0.92	S Phase	0.78
M/G1 Transition	0.81

Pathways by source See SuperPaths
Show all pathways

4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLE

	Mismatch Repair in Eukaryotes
	DNA Repair Mechanisms
	Nucleotide Excision Repair Pathway
	Cell Cycle Control of Chromosomal Replication

1 GeneGo (Thomson Reuters) Pathway for POLE

Cell cycle Transition and termination of DNA replication

3 BioSystems Pathways for POLE

	G1 to S cell cycle control
	DNA Replication
	RB in Cancer

5 Reactome Pathways for POLE

	Telomere C-strand synthesis initiation
	Repair synthesis for gap-filling by DNA polymerase in TC-NER
	Activation of the pre-replicative complex
	Repair synthesis of patch ~27-30 bases long by DNA polymerase
	DNA replication initiation

Selected Kegg Pathways (Kegg details for POLE) (see all 7):

	Purine metabolism
	Pyrimidine metabolism
	Metabolic pathways
	DNA replication
	Base excision repair

POLE for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for POLE
Interactions:

GeneGlobe Interaction Network for POLE

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for POLE (Q07864^{2, 3} ENSP00000322570⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 924)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=2
HIST1H4B	P62805³	I2D: score=2
HIST1H4C	P62805³	I2D: score=2
HIST1H4D	P62805³	I2D: score=2
HIST1H4E	P62805³	I2D: score=2

About this table

Gene Ontology (GO): Selected biological process terms (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000082	G1/S transition of mitotic cell cycle	TAS	--
GO:0000278	mitotic cell cycle	TAS	--
GO:0000722	telomere maintenance via recombination	TAS	--
GO:0000723	telomere maintenance	TAS	--
GO:0000731	DNA synthesis involved in DNA repair	IMP	1730053

POLE for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for POLE (DPOE1)

6 HMDB Compounds for POLE About this table

Compound	Synonyms	CAS #	PubMed Ids
Phosphoric acid	acide phosphorique (FRENCH) (see all 20)	7664-38-2	--
Pyrophosphate	(4-)Diphosphoric acid ion (see all 10)	14000-31-8	--
Thymidine 5'-triphosphate	2'-Deoxythymidine 5'-triphosphate (see all 13)	365-08-2	--
dATP	2'-Deoxy-5'-ATP (see all 8)	1927-31-7	--
dCTP	2'-deoxycytidine-5'-triphosphate (see all 4)	2056-98-6	--
dGTP	2'-Deoxyguanosine 5'-triphosphate (see all 4)	2564-35-4	--

1 DrugBank Compound for POLE About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Cladribine	2-CdA (see all 5)	4291-63-8	target	inhibitor	19576186

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for POLE gene:

NM_006231.3

Unigene Cluster for POLE:

Polymerase (DNA directed), epsilon, catalytic subunit

Hs.524871 [show with all ESTs]

Unigene Representative Sequence: BC144561

Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):

ENST00000541627 ENST00000320574(uc001uks.1 uc009zyu.1) ENST00000537064(uc001ukr.1 uc010tbq.1)

ENST00000534922 ENST00000535270 ENST00000544692 ENST00000538196 ENST00000543516

ENST00000544870 ENST00000441786 ENST00000541213 ENST00000544414 ENST00000416953

ENST00000434528(uc001ukq.1) ENST00000542362 ENST00000540987 ENST00000539006

ENST00000536445

miRNA Products:		Block miRNA regulation of human, mouse, rat POLE using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate POLE
		SwitchGear 3'UTR luciferase reporter plasmid: POLE 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for POLE
		Predesigned siRNA for gene silencing in human, mouse, rat POLE

Clone Products:		OriGene clones in human, mouse for POLE (see all 6) OriGene ORF clones in mouse, rat for POLE OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: POLE (NM_006231)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLE
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLE

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for POLE
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat POLE
		QuantiTect SYBR Green Assays in human, mouse, rat POLE
		QuantiFast Probe-based Assays in human, mouse, rat POLE

Additional mRNA sequence:

AF128542.1 AF128544.1 AK025087.1 AK093003.1 AL080203.1 BC007599.1 BC011376.1 BC021559.1

BC087613.1 BC144561.1 L09561.1 S60080.1 U49356.1

18 DOTS entries:

DT.445040 DT.100755029 DT.101982981 DT.316471 DT.100755031 DT.92012151 DT.97769357 DT.102831799

DT.95144247 DT.97822386 DT.87015676 DT.121172767 DT.91905918 DT.92354048 DT.120704907 DT.121172816

DT.91828132 DT.95171522

Selected AceView cDNA sequences (see all 206):

BI909593 AA470641 AA714569 BF115176 BX647647 T98586 BQ224205 AF128542

NM_006231 AL704629 BF883728 L09561 BM478237 BM849703 AI624906 BM467737

F09552 AI825841 BQ049812 AL043786 BM692718 BM458272 BC021559 BX493014

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for POLE (see all 13) About this scheme

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:

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:																																					-

ExUns:	43	^	44a	·	44b	^	45a	·	45b	^	46a	·	46b	·	46c	^	47a	·	47b	^	48a	·	48b	^	49	^	50	^	51a	·	51b	·	51c
SP1:									-		-										-				-
SP2:									-		-										-				-
SP3:									-		-										-				-
SP4:
SP5:

ECgene alternative splicing isoforms for POLE

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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POLE expression in normal human tissues (normalized intensities) POLE embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GAGAAATGGG

About this image

POLE expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Brain (Nervous System) fully expand to see all 2 entries
Cerebral Cortex

Neural Tube (Nervous System)
Telencephalon

POLE Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

POLE Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.524871

Custom PCR Arrays for POLE

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for POLE
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat POLE
		QuantiTect SYBR Green Assays in human, mouse, rat POLE
		QuantiFast Probe-based Assays in human, mouse, rat POLE

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLE

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for POLE gene from Selected species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pole^{1 , 5}	polymerase (DNA directed), epsilon^{1, 5}	86.13(n)¹ 91.17(a)¹		5 (53.45 cM)⁵ 18973¹ NM_011132.2¹ NP_035262.2¹ 110286306⁵
chicken (Gallus gallus)	Aves	POLE¹	polymerase (DNA directed), epsilon, catalytic subunit	79.04(n) 84.17(a)		416997 XM_004934425.1 XP_004934482.1
lizard (Anolis carolinensis)	Reptilia	POLE⁶	polymerase (DNA directed), epsilon, catalytic subu...	81(a)	1 ↔ 1	GL343417.1(432562-459794)
African clawed frog (Xenopus laevis)	Amphibia	pole-A²	polymerase (DNA directed), epsilon	75.54(n)		AF202988.1
zebrafish (Danio rerio)	Actinopterygii	pole¹	polymerase (DNA directed), epsilon	73.72(n) 80.6(a)		553405 NM_001128523.1 NP_001121995.1
fruit fly (Drosophila melanogaster)	Insecta	DNApol-&egr;³ DNApol-epsilon¹	DNA dependent DNA replication epsilon DNA polymerase³ DNA polymerase epsilon¹	40(a)³ 60.35(n)¹ 57.55(a)¹		94E13³ 42758¹ NM_079738.3¹ NP_524462.2¹
worm (Caenorhabditis elegans)	Secernentea	F33H2.5^{1 , 3}	DNA polymerase family B (3 domains)³ F33H2.5¹	43(a)³ 51.63(n)¹ 47.43(a)¹		I(15013741-15021915)³ 173368¹ NM_061215.3¹ NP_493616.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	POL2(YNL262W)⁴ POL2¹	Catalytic subunit of DNA polymerase (II) epsilon, a more⁴ POL2¹	48.91(n)¹ 45.22(a)¹		14(148212-154880)⁴ 855459^{1, 4} NP_014137.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	TIL1¹	TIL1	50.54(n) 45.92(a)		837346 NM_100699.5 NP_172303.5
rice (Oryza sativa)	Liliopsida	Os02g0511900¹	Os02g0511900	50.76(n) 46.54(a)		4329458 NM_001053474.2 NP_001046939.2

ENSEMBL Gene Tree for POLE (if available)
TreeFam Gene Tree for POLE (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for POLE gene

2 SIMAP similar genes for POLE using alignment to 9 protein entries: DPOE1_HUMAN (see all proteins):

POLE1 DKFZp434F222

POLE for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_069344⁴		Colorectal cancer 12 (CRCS12)⁴	--	see VAR_069344	2	L V	mis⁴		0	--	--	--	--
rs191579524^1,2		--	133057860(+)	`GGCTGC/TGTAAA`	1	--	us2k¹		0	--	--	--	--
rs181710447^1,2		--	133057906(+)	`GCAGGA/GCAAAG`	1	--	us2k¹		0	--	--	--	--
rs188417235^1,2		--	133199879(+)	`AAATAC/TCCAGC`	1	--	int¹		0	--	--	--	--
rs147621338^1,2		--	133199976(+)	`ACTCAA/GATGCC`	1	--	int¹		0	--	--	--	--
rs5745097^1,2	C,F	--	133199982(-)	`GCTGCG/AGGCAT`	1	--	int¹		7		NS NA WA	438
rs142239458^1,2		--	133199992(+)	`CTAGCA/CTCACA`	1	--	int¹		0	--	--	--	--
rs5745096^1,2	C,F	--	133200016(-)	`GGGCGC/TCAGTC`	1	--	int¹		2		NS CSA	176
rs112611346^1,2	C,F	--	133200018(+)	`CTGGCG/ACCCAC`	1	--	int¹		1		WA	2
rs5745095^1,2	C,F	--	133200032(-)	`CGCCCG/AGTGCA`	1	--	int¹		3		NS NA EA	414

HapMap Linkage Disequilibrium report for POLE (133200348 - 133263951 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for POLE (see all 13): About this table

Variant ID	Type	Subtype	PubMed ID
esv2747032	CNV	Deletion	23290073
esv1667239	CNV	Deletion	17803354
esv2747031	CNV	Deletion	23290073
esv2422284	CNV	Deletion	17116639
esv2665414	CNV	Deletion	23128226
nsv512304	CNV	Loss	21212237
nsv899826	CNV	Loss	21882294
dgv1534n71	CNV	Loss	21882294
nsv820101	CNV	Loss	19587683
dgv1543n71	CNV	Loss	21882294

Human Gene Mutation Database (HGMD): POLE

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing POLE

DNA2.0 Custom Variant and Variant Library Synthesis for POLE

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 174762
OMIM disorders: 615083 615139
UniProtKB/Swiss-Prot: DPOE1_HUMAN, Q07864

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. 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. Note=The disease is caused by mutations affecting the gene

represented in this entry

Selected diseases for POLE (see all 34): About MalaCards

fils syndrome colorectal cancer 12 skin tag tinea corporis

alpers syndrome chronic progressive external ophthalmoplegia herpes zoster colorectal cancer

color blindness ophthalmoplegia human immunodeficiency virus infectious disease short stature

acquired immunodeficiency syndrome xeroderma pigmentosum blindness narcolepsy

graft versus host disease vaccinia encephalitis herpes simplex

9 diseases from the University of Copenhagen DISEASES database for POLE:

Hepatitis B Herpes simplex Hepatitis Xeroderma pigmentosum

Cancer Acquired immunodeficiency syndrome Retinitis Vaccinia

Herpes zoster

POLE for disorders About GeneDecksing

Congresses - knowledge worth sharing:
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
Genetic Association Database (GAD): POLE
Human Genome Epidemiology (HuGE) Navigator: POLE (24 documents)

Export disorders for POLE gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for POLE gene, integrated from 10 sources (see all 84):
(articles sorted by number of sources associating them with POLE)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase epsilon. (PubMed id 8486689)^{1, 2, 9} Kesti T.... Syvaeoja J.E. (J. Biol. Chem. 1993)
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. (PubMed id 23263490)^{1, 2} Palles C.... Tomlinson I. (Nat. Genet. 2013)
Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome). (PubMed id 23230001)^{1, 2} Pachlopnik Schmid J....de Saint Basile G. (J. Exp. Med. 2012)
Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)^{1, 4} Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)
Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)^{1, 4} Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations. (PubMed id 20226869)^{1, 4} Thyagarajan B....Arora M. (Biol. Blood Marrow Transplant. 2010)
An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)^{1, 4} Shimada M....Tokunaga K. (Hum. Genet. 2010)
Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PubMed id 20574454)^{1, 4} Arora M....Thyagarajan B. (Leukemia 2010)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (Mol. Med. 2010)
Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)^{1, 4} Michiels S....Benhamou S. (Carcinogenesis 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5426	HGNC: 9177	AceView: POLE	Ensembl:ENSG00000177084	euGenes: HUgn5426
ECgene: POLE	Kegg: 5426	H-InvDB: POLE

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for POLE	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for POLE	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/pole/

Intellectual Property for POLE gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for POLE gene:
Search GeneIP for patents involving POLE

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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Polymerase (DNA Directed), Epsilon, Catalytic Subunit

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POLE Gene

Polymerase (DNA Directed), Epsilon, Catalytic Subunit

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