Aliases for POLE2 Gene
External Ids for POLE2 Gene
Previous GeneCards Identifiers for POLE2 Gene
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]
GeneCards Summary for POLE2 Gene
POLE2 (DNA Polymerase Epsilon 2, Accessory Subunit) is a Protein Coding gene. Diseases associated with POLE2 include Combined Immunodeficiency and Holoprosencephaly 2. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include DNA-directed DNA polymerase activity.
UniProtKB/Swiss-Prot Summary for POLE2 Gene
Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity).