POLE4: DNA Polymerase Epsilon Subunit 4
A key accessory subunit of the leading strand DNA polymerase epsilon complex, involved in genome replication and repair.
Gene Information Card
| Symbol | POLE4 |
|---|---|
| Full Name | DNA Polymerase Epsilon 4, Accessory Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 2p12 |
| NCBI Gene ID | 56655 ncbi.nlm.nih.gov/gene/56655 |
| Ensembl ID | ENSG00000115310 |
| UniProt ID | Q9NR33 |
| OMIM ID | 607261 |
| HGNC ID | 17993 |
| Aliases | p12, YHHQ1 |
Description
POLE4 encodes the p12 accessory subunit of DNA polymerase epsilon (Pol ε), a multi-subunit enzyme responsible for leading-strand DNA synthesis during replication. The p12 subunit is essential for the stability and processivity of the Pol ε complex and participates in DNA repair pathways, including nucleotide excision repair and translesion synthesis. POLE4 is widely expressed and its dysregulation has been implicated in genomic instability and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered POLE4 expression may contribute to replication stress and genomic instability. | COSMIC; PMID: 23535649 |
| Breast Cancer | POLE4 overexpression observed in some subtypes; potential role in tumor proliferation. | COSMIC; PMID: 28481328 |
| Lung Cancer | Somatic mutations in POLE4 identified; functional impact under investigation. | COSMIC; PMID: 26619011 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain | 6.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | High expression in embryonic kidney cells |
| HeLa | 11.5 | Moderate expression in cervical cancer cells |
| A549 | 9.2 | Moderate expression in lung carcinoma cells |
| MCF7 | 7.8 | Low-moderate expression in breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; likely loss-of-function |
| c.287C>T (p.Pro96Leu) | Missense | <0.1% | Unknown functional effect; rare in population |
| c.424_425insA (p.Thr142Asnfs*2) | Frameshift | <0.1% | Predicted loss-of-function via premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in POLE4 are predicted to cause loss of function, impairing Pol ε complex stability and DNA replication fidelity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for POLE4.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for POLE4.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication | • DNA repair |
| • DNA-directed DNA polymerase activity | • nucleus |
| • protein binding |
Pathways
• DNA replication (Reactome: R-HSA-69306)
• Leading strand synthesis (Reactome: R-HSA-174411)
• Nucleotide excision repair (Reactome: R-HSA-5696398)
Protein Summary
POLE4 (p12) is a 142-amino-acid accessory subunit of DNA polymerase epsilon. It binds to the catalytic POLE1 subunit and enhances processivity. The protein contains a conserved domain involved in protein-protein interactions within the replisome. POLE4 is localized to the nucleus and is essential for normal S-phase progression. Loss of POLE4 leads to reduced Pol ε activity and increased sensitivity to DNA damage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLE4 Knockout HEK293 Cell Line | EDJ-KQ14830 | Human | 56655 | Details Get a Quote |
| POLE4 Knockout HCT 116 Cell Line | EDJ-KQ44005 | Human | 56655 | Details Get a Quote |
| POLE4 Knockout A-549 Cell Line | EDJ-KQ45271 | Human | 56655 | Details Get a Quote |
| POLE4 Knockout HeLa Cell Line | EDJ-KQ45273 | Human | 56655 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
