POLE4 (DNA polymerase epsilon 4, accessory subunit)

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

Gene

• Entrez ID: 56655
• Gene name: DNA polymerase epsilon 4, accessory subunit
• Gene symbol: POLE4
• Synonyms (NCBI Gene): YHHQ1, p12
• Chromosome: 2
• Chromosome location: 2p12
• Summary: POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[su

miRNA Show/Hide all (117)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001520	hsa-miR-155-5p	pSILAC	18668040
MIRT001520	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT025793	hsa-miR-7-5p	Microarray	19073608
MIRT726910	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT726909	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT726907	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT726908	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT1247641	hsa-miR-298	CLIP-seq
MIRT1247642	hsa-miR-3663-5p	CLIP-seq
MIRT1247643	hsa-miR-4659a-3p	CLIP-seq
MIRT1247644	hsa-miR-4659b-3p	CLIP-seq
MIRT1247645	hsa-miR-4778-5p	CLIP-seq
MIRT1247646	hsa-miR-4786-3p	CLIP-seq
MIRT1247647	hsa-miR-491-3p	CLIP-seq
MIRT1247648	hsa-miR-671-5p	CLIP-seq
MIRT1247649	hsa-miR-873	CLIP-seq
MIRT2073084	hsa-miR-1253	CLIP-seq
MIRT2073085	hsa-miR-1324	CLIP-seq
MIRT2073086	hsa-miR-15a	CLIP-seq
MIRT2073087	hsa-miR-15b	CLIP-seq
MIRT2073088	hsa-miR-16	CLIP-seq
MIRT2073089	hsa-miR-1914	CLIP-seq
MIRT2073090	hsa-miR-195	CLIP-seq
MIRT2073091	hsa-miR-2467-3p	CLIP-seq
MIRT1247641	hsa-miR-298	CLIP-seq
MIRT2073092	hsa-miR-3190	CLIP-seq
MIRT2073093	hsa-miR-3200-3p	CLIP-seq
MIRT2073094	hsa-miR-320a	CLIP-seq
MIRT2073095	hsa-miR-320b	CLIP-seq
MIRT2073096	hsa-miR-320c	CLIP-seq
MIRT2073097	hsa-miR-320d	CLIP-seq
MIRT2073098	hsa-miR-324-5p	CLIP-seq
MIRT2073099	hsa-miR-330-3p	CLIP-seq
MIRT2073100	hsa-miR-3545-3p	CLIP-seq
MIRT1247642	hsa-miR-3663-5p	CLIP-seq
MIRT2073101	hsa-miR-3678-3p	CLIP-seq
MIRT2073102	hsa-miR-3681	CLIP-seq
MIRT2073103	hsa-miR-3919	CLIP-seq
MIRT2073104	hsa-miR-3944-5p	CLIP-seq
MIRT2073105	hsa-miR-424	CLIP-seq
MIRT2073106	hsa-miR-4429	CLIP-seq
MIRT2073107	hsa-miR-4645-5p	CLIP-seq
MIRT2073108	hsa-miR-4649-3p	CLIP-seq
MIRT1247643	hsa-miR-4659a-3p	CLIP-seq
MIRT1247644	hsa-miR-4659b-3p	CLIP-seq
MIRT2073109	hsa-miR-4673	CLIP-seq
MIRT1247645	hsa-miR-4778-5p	CLIP-seq
MIRT1247646	hsa-miR-4786-3p	CLIP-seq
MIRT1247647	hsa-miR-491-3p	CLIP-seq
MIRT2073110	hsa-miR-497	CLIP-seq
MIRT2073111	hsa-miR-646	CLIP-seq
MIRT1247648	hsa-miR-671-5p	CLIP-seq
MIRT2073112	hsa-miR-7	CLIP-seq
MIRT2073113	hsa-miR-767-3p	CLIP-seq
MIRT1247649	hsa-miR-873	CLIP-seq
MIRT2073085	hsa-miR-1324	CLIP-seq
MIRT2073086	hsa-miR-15a	CLIP-seq
MIRT2073087	hsa-miR-15b	CLIP-seq
MIRT2073088	hsa-miR-16	CLIP-seq
MIRT2300241	hsa-miR-190	CLIP-seq
MIRT2300242	hsa-miR-190b	CLIP-seq
MIRT2073089	hsa-miR-1914	CLIP-seq
MIRT2073090	hsa-miR-195	CLIP-seq
MIRT2073091	hsa-miR-2467-3p	CLIP-seq
MIRT1247641	hsa-miR-298	CLIP-seq
MIRT2073094	hsa-miR-320a	CLIP-seq
MIRT2073095	hsa-miR-320b	CLIP-seq
MIRT2073096	hsa-miR-320c	CLIP-seq
MIRT2073097	hsa-miR-320d	CLIP-seq
MIRT2073098	hsa-miR-324-5p	CLIP-seq
MIRT2073099	hsa-miR-330-3p	CLIP-seq
MIRT2073100	hsa-miR-3545-3p	CLIP-seq
MIRT2073101	hsa-miR-3678-3p	CLIP-seq
MIRT2300243	hsa-miR-3688-3p	CLIP-seq
MIRT2073104	hsa-miR-3944-5p	CLIP-seq
MIRT2073105	hsa-miR-424	CLIP-seq
MIRT2073106	hsa-miR-4429	CLIP-seq
MIRT2300244	hsa-miR-4432	CLIP-seq
MIRT2073107	hsa-miR-4645-5p	CLIP-seq
MIRT2073108	hsa-miR-4649-3p	CLIP-seq
MIRT1247643	hsa-miR-4659a-3p	CLIP-seq
MIRT1247644	hsa-miR-4659b-3p	CLIP-seq
MIRT2073109	hsa-miR-4673	CLIP-seq
MIRT1247646	hsa-miR-4786-3p	CLIP-seq
MIRT1247647	hsa-miR-491-3p	CLIP-seq
MIRT2073110	hsa-miR-497	CLIP-seq
MIRT2300245	hsa-miR-548u	CLIP-seq
MIRT2073111	hsa-miR-646	CLIP-seq
MIRT1247648	hsa-miR-671-5p	CLIP-seq
MIRT2073112	hsa-miR-7	CLIP-seq
MIRT2073113	hsa-miR-767-3p	CLIP-seq
MIRT1247649	hsa-miR-873	CLIP-seq
MIRT2073084	hsa-miR-1253	CLIP-seq
MIRT2073091	hsa-miR-2467-3p	CLIP-seq
MIRT2073092	hsa-miR-3190	CLIP-seq
MIRT2073093	hsa-miR-3200-3p	CLIP-seq
MIRT2073101	hsa-miR-3678-3p	CLIP-seq
MIRT2073102	hsa-miR-3681	CLIP-seq
MIRT2596991	hsa-miR-3714	CLIP-seq
MIRT2073103	hsa-miR-3919	CLIP-seq
MIRT2596992	hsa-miR-4493	CLIP-seq
MIRT2596993	hsa-miR-4773	CLIP-seq
MIRT2596994	hsa-miR-574-5p	CLIP-seq
MIRT2596995	hsa-miR-610	CLIP-seq
MIRT2073112	hsa-miR-7	CLIP-seq
MIRT2073084	hsa-miR-1253	CLIP-seq
MIRT2073091	hsa-miR-2467-3p	CLIP-seq
MIRT2073092	hsa-miR-3190	CLIP-seq
MIRT2073093	hsa-miR-3200-3p	CLIP-seq
MIRT2073101	hsa-miR-3678-3p	CLIP-seq
MIRT2073102	hsa-miR-3681	CLIP-seq
MIRT2596991	hsa-miR-3714	CLIP-seq
MIRT2073103	hsa-miR-3919	CLIP-seq
MIRT2596992	hsa-miR-4493	CLIP-seq
MIRT2596993	hsa-miR-4773	CLIP-seq
MIRT2596995	hsa-miR-610	CLIP-seq
MIRT2073112	hsa-miR-7	CLIP-seq

Gene ontology (GO) Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	TAS	10801849
GO:0005515	Function	Protein binding	IPI	10801849, 22190034, 25416956, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10801849
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006261	Process	DNA-templated DNA replication	IBA
GO:0006261	Process	DNA-templated DNA replication	IDA	33051204
GO:0008622	Component	Epsilon DNA polymerase complex	IBA
GO:0008622	Component	Epsilon DNA polymerase complex	IDA	10801849
GO:0008622	Component	Epsilon DNA polymerase complex	IPI	10801849
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0071897	Process	DNA biosynthetic process	IEA
GO:0140672	Component	ATAC complex	IDA	18838386

Other IDs

• MIM: 607269
• HGNC: 18755
• e!Ensembl: ENSG00000115350

Protein

• UniProt ID: Q9NR33
• Protein name: DNA polymerase epsilon subunit 4 (DNA polymerase II subunit 4) (DNA polymerase epsilon subunit p12)
• Protein function: Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00808	CBFD_NFYB_HMF	39 → 103	Histone-like transcription factor (CBF/NF-Y) and archaeal histone	Domain

• Sequence:

  MAAAAAAGSGTPREEEGPAGEAAASQPQAPTSVPGARLSRLPLARVKALVKADPDVTLAG
  QEAIFILARAAELFVETIAKDAYCCAQQGKRKTLQRRDLDNAIEAVDEFAFLEGTLD

• Sequence length: 117

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
SKIN DISEASE	—	GWAS catalog	30557370	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	33592630	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (32)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	20647569, 24284316		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	12507899	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23727582	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20565749		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	BEFREE	29214672		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	7721800		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28205096		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28205096		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12645656, 23358926		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29532970		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24284316, 25356837		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	7662954		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	9075484		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	12010812		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20565749		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	7962193		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	34008015	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	1486569		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	9551086	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15193436, 23727582, 29754823, 30470508		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	30332322		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	36233195	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12550767, 15193436, 15325100		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	22819531		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23727582	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	27553711	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	10561690		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	17175380		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37950047	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	30597258		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	22491401, 26218904, 28730075, 30664207		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	17217620	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. POLE2 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	[]
POLE2	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"]