POLE2 wt Allele

Preferred Label : POLE2 wt Allele;

NCIt synonyms : Polymerase (DNA) Epsilon 2, Accessory Subunit Gene; Polymerase (DNA Directed), Epsilon 2, Accessory Subunit Gene; Polymerase, DNA, Epsilon-2 Gene; DNA Polymerase Epsilon 2, Accessory Subunit wt Allele; DPE2; Polymerase (DNA Directed), Epsilon 2 (p59 Subunit) Gene;

NCIt definition : Human POLE2 wild-type allele is located in the vicinity of 14q21.3 and is approximately 45 kb in length. This allele, which encodes DNA polymerase epsilon subunit 2 protein, plays a role in DNA-dependent replication.;

NCIt note : Mutations in the POLE2 gene may be associated with colorectal cancer. (Nature Communications. 2016; 7: doi:10.1038/ncomms11883.);

NCI Metathesaurus CUI : CL520376;

GenBank Accession Number : AF025840;

Details

Origin ID

C132124;

UMLS CUI

C4321353;

Automatic exact mappings (from CISMeF team)
- Polymerase, dna, epsilon-2 [OMIM gene]
- enkephalinamide-Leu, Ala(2)-aminoethyl dimer- [MeSH Supplementary Concept]
OMIM relation
- Polymerase, dna, epsilon-2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q21.3 [NCIt concept]
gene_is_element_in_pathway
- Base Excision Repair Pathway [NCIt concept]
- DNA Replication Pathway [NCIt concept]
- Nucleotide Excision Repair Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
- Pyrimidine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- DNA Replication [NCIt concept]
- G1/S Transition Checkpoint [NCIt concept]
- Polymerization [NCIt concept]
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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