Skip to content
GenoLensGenoLens

POLE2

Chr 14q21.3

DNA polymerase epsilon 2, accessory subunit

Aliases:
DPE2
MANE:
ENST00000216367.10

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • acute lymphoblastic leukemia

    0.60
  • non-small cell lung carcinoma

    0.60
  • B-cell chronic lymphocytic leukemia

    0.59
  • acute myeloid leukemia

    0.59
  • exocrine pancreatic carcinoma

    0.58
  • ovarian carcinoma

    0.56
  • neoplasm

    0.55
  • breast cancer

    0.53
  • breast carcinoma

    0.53
  • myelodysplastic syndrome

    0.52

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DNA polymerase epsilon subunit 2

Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity)

Curated MONDO disease pages that list POLE2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.