POLE2 Gene Summary [Human]
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 colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]
Details
| Type | Retained Intron |
| Official Symbol | POLE2 |
| Official Name | DNA polymerase epsilon 2, accessory subunit [Source:HGNC Symbol;Acc:HGNC:9178] |
| Ensembl ID | ENSG00000100479 |
| Bio databases IDs | |
| Aliases | DNA polymerase epsilon 2, accessory subunit, DNA polymerase epsilon subunit B |
| Synonyms | DNA polymerase epsilon 2, accessory subunit, DNA Polymerase epsilon Subunit2, DNA POLYMERASE epsilon subunit B, DNA polymerase ε 2, accessory subunit, DNA Polymerase ε Subunit2, DNA POLYMERASE ε subunit B, DPE2, polymerase (DNA directed), epsilon 2 (p59 subunit), polymerase (DNA directed), ε 2 (p59 subunit) |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human POLE2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DNA polymerases epsilon N terminal
- DNA-directed DNA polymerase
- DNA polymerase alpha/epsilon subunit B
- enzyme
- metallophosphatase superfamily, metallophosphatase domain
- protein binding
Pathways
Biological processes and signaling networks where the POLE2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- favorable-risk acute myeloid leukemia
- refractory B-cell non-Hodgkin lymphoma
- acute myeloid leukemia
- de novo unfavorable cytogenetic risk acute myeloid leukemia
- refractory or relapsed acute myeloid leukemia
- highly active relapsing multiple sclerosis
- myeloid leukemia
- hairy cell leukemia
- cutaneous mastocytosis
role in cell
- expression in
- apoptosis
- migration
- cell viability
- epithelial-mesenchymal transition
- colony formation by
- CCT245737 sensitivity
- ubiquitination in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- intracellular membrane-bounded organelle
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POLE2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- DNA replication
- DNA-dependent DNA replication
- error-prone translesion synthesis
Cellular Component
Where in the cell the gene product is active
- nuclear body
- intracellular membrane-bounded organelle
- epsilon DNA polymerase complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- DNA-directed DNA polymerase activity
- protein binding