POLE2 (DNA polymerase epsilon 2, accessory subunit)

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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 5427
• Gene name: DNA polymerase epsilon 2, accessory subunit
• Gene symbol: POLE2
• Synonyms (NCBI Gene): DPE2
• Chromosome: 14
• Chromosome location: 14q21.3
• Summary: DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to co

miRNA Show/Hide all (9)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016554	hsa-miR-193b-3p	Microarray	20304954
MIRT1247430	hsa-miR-2054	CLIP-seq
MIRT1247431	hsa-miR-3074-3p	CLIP-seq
MIRT1247432	hsa-miR-361-5p	CLIP-seq
MIRT1247433	hsa-miR-3976	CLIP-seq
MIRT1247434	hsa-miR-4662a-3p	CLIP-seq
MIRT1247435	hsa-miR-4775	CLIP-seq
MIRT1247436	hsa-miR-590-3p	CLIP-seq
MIRT1247437	hsa-miR-889	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFIC	Unknown	11433027
SP1	Unknown	11433027

Gene ontology (GO) Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	TAS	9405441
GO:0005515	Function	Protein binding	IPI	10801849, 25416956, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006259	Process	DNA metabolic process	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	TAS	9405441
GO:0006261	Process	DNA-templated DNA replication	IBA
GO:0006261	Process	DNA-templated DNA replication	IDA	33051204
GO:0006261	Process	DNA-templated DNA replication	IEA
GO:0006281	Process	DNA repair	TAS	9405441
GO:0008622	Component	Epsilon DNA polymerase complex	IBA
GO:0008622	Component	Epsilon DNA polymerase complex	IDA	10801849, 22465957
GO:0008622	Component	Epsilon DNA polymerase complex	IEA
GO:0008622	Component	Epsilon DNA polymerase complex	IPI	10801849
GO:0016604	Component	Nuclear body	IDA
GO:0031981	Component	Nuclear lumen	IEA
GO:0042276	Process	Error-prone translesion synthesis	IBA

Other IDs

• MIM: 602670
• HGNC: 9178
• e!Ensembl: ENSG00000100479

Protein

• UniProt ID: P56282
• Protein name: DNA polymerase epsilon subunit 2 (DNA polymerase II subunit 2) (DNA polymerase epsilon subunit B)
• Protein function: Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity).
• PDB: 2V6Z , 5VBN , 7PFO , 7PLO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04042	DNA_pol_E_B	287 → 489	DNA polymerase alpha/epsilon subunit B	Family
  PF12213	Dpoe2NT	2 → 74	DNA polymerases epsilon N terminal	Domain

• Sequence:

  MAPERLRSRALSAFKLRGLLLRGEAIKYLTEALQSISELELEDKLEKIINAVEKQPLSSN
  MIERSVVEAAVQECSQSVDETIEHVFNIIGAFDIPRFVYNSERKKFLPLLMTNHPAPNLF
  GTPRDKAEMFRERYTILHQRTHRHELFTPPVIGSHPDESGSKFQLKTIETLLGSTTKIGD
  AIVLGMITQLKEGKFFLEDPTGTVQLDLSKAQFHSGLYTEACFVLAEGWFEDQVFHVNAF
  GFPPTEPSSTTRAYYGNINFFGGPSNTSVKTSAKLKQLEEENKDAMFVFLSDVWLDQVEV
  LEKLRIMFAGYSPAPPTCFILCGNFSSAPYGKNQVQALKDSLKTLADIICEYPDIHQSSR
  FVFVPGPEDPGFGSILPRPPLAESITNEFRQRVPFSVFTTNPCRIQYCTQEITVFREDLV
  NKMCRNCVRFPSSNLAIPNHFVKTILSQGHLTPLPLYVCPVYWAYDYALRVYPVPDLLVI
  ADKYDPFTTTNTECLCINPGSFPRSGFSFKVFYPSNKTVEDSKLQGF

• Sequence length: 527

Pathways

KEGG Pathway	Reactome Pathway
DNA replication	Recognition of DNA damage by PCNA-containing replication complex
Base excision repair	PCNA-Dependent Long Patch Base Excision Repair
Nucleotide excision repair	Termination of translesion DNA synthesis
	HDR through Homologous Recombination (HRR)
	Gap-filling DNA repair synthesis and ligation in GG-NER
	Dual Incision in GG-NER
	Dual incision in TC-NER
	Gap-filling DNA repair synthesis and ligation in TC-NER
	DNA replication initiation
	Activation of the pre-replicative complex

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLE2-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (8)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30132567		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30763339, 37628631	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	38070189	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32241274	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27329137, 32161100	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35039475	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38070189	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25921176	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

POLE 13 shared pathwaysDNA replication, Base excision repair, Nucleotide excision repair, Dual Incision in GG-NER, Dual incision in TC-NER, Gap-filling DNA repair synthesis and ligation in TC-NER, HDR through Homologous Recombination (HRR), Activation of the pre-replicative complex, Recognition of DNA damage by PCNA-containing replication complex, PCNA-Dependent Long Patch Base Excision Repair, Termination of translesion DNA synthesis, Gap-filling DNA repair synthesis and ligation in GG-NER +1 more Related via 13 shared pathways including DNA replication, Base excision repair. POLE4 13 shared pathwaysDNA replication, Base excision repair, Nucleotide excision repair, Dual Incision in GG-NER, Dual incision in TC-NER, Gap-filling DNA repair synthesis and ligation in TC-NER, HDR through Homologous Recombination (HRR), Activation of the pre-replicative complex, Recognition of DNA damage by PCNA-containing replication complex, PCNA-Dependent Long Patch Base Excision Repair, Termination of translesion DNA synthesis, Gap-filling DNA repair synthesis and ligation in GG-NER +1 more Related via 13 shared pathways including DNA replication, Base excision repair. POLE3 13 shared pathwaysDNA replication, Base excision repair, Nucleotide excision repair, Dual Incision in GG-NER, Dual incision in TC-NER, Gap-filling DNA repair synthesis and ligation in TC-NER, HDR through Homologous Recombination (HRR), Activation of the pre-replicative complex, Recognition of DNA damage by PCNA-containing replication complex, PCNA-Dependent Long Patch Base Excision Repair, Termination of translesion DNA synthesis, Gap-filling DNA repair synthesis and ligation in GG-NER +1 more Related via 13 shared pathways including DNA replication, Base excision repair. RFC1 11 shared pathwaysDNA replication, Base excision repair, Nucleotide excision repair, Dual Incision in GG-NER, Dual incision in TC-NER, Gap-filling DNA repair synthesis and ligation in TC-NER, HDR through Homologous Recombination (HRR), Recognition of DNA damage by PCNA-containing replication complex, PCNA-Dependent Long Patch Base Excision Repair, Termination of translesion DNA synthesis, Gap-filling DNA repair synthesis and ligation in GG-NER Related via 11 shared pathways including DNA replication, Base excision repair. POLD3 11 shared pathwaysDNA replication, Base excision repair, Nucleotide excision repair, Dual Incision in GG-NER, Dual incision in TC-NER, Gap-filling DNA repair synthesis and ligation in TC-NER, HDR through Homologous Recombination (HRR), Recognition of DNA damage by PCNA-containing replication complex, PCNA-Dependent Long Patch Base Excision Repair, Termination of translesion DNA synthesis, Gap-filling DNA repair synthesis and ligation in GG-NER Related via 11 shared pathways including DNA replication, Base excision repair.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
POLE	0	[]	13	["DNA replication","Base excision repair","Nucleotide excision repair","Dual Incision in GG-NER","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Homologous Recombination (HRR)","Activation of the pre-replicative complex","Recognition of DNA damage by PCNA-containing replication complex","PCNA-Dependent Long Patch Base Excision Repair","Termination of translesion DNA synthesis","Gap-filling DNA repair synthesis and ligation in GG-NER"]	0	[]
POLE4	0	[]	13	["DNA replication","Base excision repair","Nucleotide excision repair","Dual Incision in GG-NER","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Homologous Recombination (HRR)","Activation of the pre-replicative complex","Recognition of DNA damage by PCNA-containing replication complex","PCNA-Dependent Long Patch Base Excision Repair","Termination of translesion DNA synthesis","Gap-filling DNA repair synthesis and ligation in GG-NER"]	0	[]
POLE3	0	[]	13	["DNA replication","Base excision repair","Nucleotide excision repair","Dual Incision in GG-NER","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Homologous Recombination (HRR)","Activation of the pre-replicative complex","Recognition of DNA damage by PCNA-containing replication complex","PCNA-Dependent Long Patch Base Excision Repair","Termination of translesion DNA synthesis","Gap-filling DNA repair synthesis and ligation in GG-NER"]	0	[]
RFC1	0	[]	11	["DNA replication","Base excision repair","Nucleotide excision repair","Dual Incision in GG-NER","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Homologous Recombination (HRR)","Recognition of DNA damage by PCNA-containing replication complex","PCNA-Dependent Long Patch Base Excision Repair","Termination of translesion DNA synthesis","Gap-filling DNA repair synthesis and ligation in GG-NER"]	0	[]
POLD3	0	[]	11	["DNA replication","Base excision repair","Nucleotide excision repair","Dual Incision in GG-NER","Dual incision in TC-NER","Gap-filling DNA repair synthesis and ligation in TC-NER","HDR through Homologous Recombination (HRR)","Recognition of DNA damage by PCNA-containing replication complex","PCNA-Dependent Long Patch Base Excision Repair","Termination of translesion DNA synthesis","Gap-filling DNA repair synthesis and ligation in GG-NER"]	0	[]

Diseases Linked via Similar Genes

Colorectal neoplasms Linked via 2 of 5 related genesPOLE, POLD3 Colorectal cancer Linked via 2 of 5 related genesPOLE, POLD3 Colorectal cancer susceptibility Linked via 1 of 5 related genesPOLE Constitutional mismatch repair deficiency Linked via 1 of 5 related genesPOLE Cystic fibrosis Linked via 1 of 5 related genesPOLE

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Colorectal neoplasms	2	["POLE","POLD3"]
Colorectal cancer	2	["POLE","POLD3"]
Colorectal cancer susceptibility	1	["POLE"]
Constitutional mismatch repair deficiency	1	["POLE"]
Cystic fibrosis	1	["POLE"]