DNA polymerase epsilon, catalytic subunit
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownColorectal cancer pertinent cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCongenital adrenal hypoplasia
BIALLELIC, autosomal or pseudoautosomalCOVID-19 research
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalGI tract tumours
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+2 more panels — install the extension to see the full list inline on any page.
colorectal cancer, susceptibility to, 12
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
Facial dysmorphism - immunodeficiency - livedo - short stature
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
non-small cell lung carcinoma
B-cell chronic lymphocytic leukemia
acute myeloid leukemia
exocrine pancreatic carcinoma
acute lymphoblastic leukemia
colorectal cancer
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
DNA polymerase epsilon catalytic subunit A
Catalytic component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication origins and moves along DNA with the replication fork (By similarity). Has 3'-5' proofreading exonuclease activity that corrects errors arising during DNA replication (By similarity). Involved in DNA synthesis during DNA repair (PubMed:20227374, PubMed:27573199). Along with DNA polymerase POLD1 and DNA polymerase POLK, has a role in excision repair (NER) synthesis following UV irradiation (PubMed:20227374)
Curated MONDO disease pages that list POLE among their top associated genes.
POLE · Q07864
Mean pLDDT
79.8/ 100
Confident
2,286 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
