POLE DNA polymerase epsilon, catalytic subunit

Gene ID: 5426, updated on 7-Apr-2024
Gene type: protein coding
Also known as: FILS; POLE1; CRCS12; IMAGEI

Summary

This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Colorectal cancer, susceptibility to, 12 MedGen: C3554460OMIM: 615083GeneReviews: Not available	See labs
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome MedGen: C3554576OMIM: 615139GeneReviews: Not available	See labs
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency MedGen: C5193036OMIM: 618336GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2019-12-16) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2019-12-16) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 12q24.33

Sequence:: Chromosome: 12; NC_000012.12 (132623762..132687342, complement)

Total number of exons:: 52

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for POLE variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.