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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POLE4
DNA polymerase epsilon 4, accessory subunit
Chromosome 2 · 2p12
NCBI Gene: 56655Ensembl: ENSG00000115350.13HGNC: HGNC:18755UniProt: Q9NR33
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmprotein bindingATAC complexDNA-templated DNA replicationneurodegenerative diseaseseptic shockovarian neoplasmvenous thromboembolism
✦AI Summary

POLE4 is an accessory subunit of DNA polymerase epsilon (Polε), the major leading strand polymerase in eukaryotes 1. POLE4 functions within the Polε complex to regulate multiple aspects of DNA metabolism: it facilitates leading strand synthesis through control of PCNA processivity and DNA grip mechanisms 2, acts as a histone H3-H4 chaperone to maintain chr2 integrity during replication 3, and participates in asymmetric H3K9me3 distribution to silence LINE retrotransposons in S phase 4. POLE4 loss destabilizes the entire Polε complex, causing replication stress and p53 activation 1. Clinically, POLE4 deficiency sensitizes cancer cells to PARP inhibitors through accumulation of replication gaps and impaired post-replicative repair, independent of homologous recombination status 56. This sensitivity operates parallel to BRCA1-mediated pathways and can overcome acquired PARPi resistance, positioning POLE4 as a therapeutic target 5. POLE4 also requires iron-sulfur cluster-dependent cofactors for optimal Polε function 2, and its expression levels correlate with survival outcomes in melanoma 7. The protein's role extends to facilitating DNA repair in radiation-injured tissues 8.

Sources cited
1
POLE4 is an accessory subunit of Polε; its deficiency destabilizes the complex, causes replication stress, p53 activation, and tumorigenesis
PMID: 29754823
2
POLE4 regulates Polε processivity through PCNA loading and DNA gripping mechanisms; requires iron-sulfur cluster factors
PMID: 41339636
3
POLE3-POLE4 subcomplex functions as histone H3-H4 chaperone maintaining chromatin integrity during replication
PMID: 30217558
4
POLE4 interacts with HUSH complex and Polε to promote asymmetric H3K9me3 distribution and suppress LINE expression
PMID: 37938774
5
POLE4 loss sensitizes cells to PARP inhibitors through replication gap accumulation and impaired post-replicative repair
PMID: 38828775
6
POLE3-POLE4 loss triggers replicative gap accumulation upon PARPi treatment, bypassing resistance mechanisms
PMID: 38753485
7
POLE4 is identified as crucial for survival in SIN3B-knockout melanoma cells
PMID: 40393534
8
POLE4 is upregulated by mitochondria-enriched nanovesicles in radiation-induced skin injury treatment
PMID: 41142427
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.39Weak
septic shockOpen Targets
0.27Weak
ovarian neoplasmOpen Targets
0.23Weak
venous thromboembolismOpen Targets
0.21Weak
infectionOpen Targets
0.07Suggestive
cervical carcinomaOpen Targets
0.05Suggestive
lymphomaOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
Hoyeraal-Hreidarsson syndromeOpen Targets
0.03Suggestive
esophageal ulcerOpen Targets
0.03Suggestive
Fanconi anemia complementation group COpen Targets
0.03Suggestive
Camurati-Engelmann diseaseOpen Targets
0.03Suggestive
ataxia telangiectasiaOpen Targets
0.03Suggestive
Ataxia-telangiectasiaOpen Targets
0.03Suggestive
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiencyOpen Targets
0.03Suggestive
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiencyOpen Targets
0.03Suggestive
MIRAGE syndromeOpen Targets
0.03Suggestive
SepsisOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
tropical spastic paraparesisOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POLA1Protein interaction100%POLD1Protein interaction100%POLEProtein interaction100%POLE2Protein interaction100%PRIM1Protein interaction100%PRIM2Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
96%
Lung
90%
Ovary
85%
Heart
56%
Brain
50%
Gene Interaction Network
Click a node to explore
POLE4POLA1POLD1POLEPOLE2PRIM1PRIM2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NR33
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.36 [0.80–1.91]
RankingsWhere POLE4 stands among ~20K protein-coding genes
  • #12,206of 20,598
    Most Researched29
  • #17,307of 17,882
    Most Constrained (LOEUF)1.91
Genes detectedPOLE4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Asymmetric distribution of parental H3K9me3 in S phase silences L1 elements.
PMID: 37938774
Nature · 2023
1.00
2
The loss of DNA polymerase epsilon accessory subunits POLE3-POLE4 leads to BRCA1-independent PARP inhibitor sensitivity.
PMID: 38828775
Nucleic Acids Res · 2024
0.90
3
Loss of POLE3-POLE4 unleashes replicative gap accumulation upon treatment with PARP inhibitors.
PMID: 38753485
Cell Rep · 2024
0.80
4
The genetic and biochemical basis of human leading strand synthesis.
PMID: 41339636
Nat Commun · 2025
0.70
5
Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis.
PMID: 29754823
Mol Cell · 2018
0.60