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Gene

POLE

DNA polymerase epsilon, catalytic subunit

Summary

Cytogenetic location
12q24.33
Coordinates
Chromosome 12: 132,623,762–132,687,342 (GRCh38)
Exons
49 exons across 63.6 kb
Protein
2,286 amino acids
Inheritance
Autosomal dominant
Also known as
POLE1
MANE Select transcript
ENST00000320574.10NM_006231.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Colorectal Cancer & Polyposis

    • Colorectal Cancer, Susceptibility To, 12Autosomal dominant

      Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.

      • 3 GenCC submitters rate it definitive or strong
    • Polymerase Proofreading-Related Adenomatous PolyposisAutosomal dominant
      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong
    • Familial adenomatous polyposis (classic or attenuated)Autosomal dominant

      Hundreds to thousands of colorectal adenomas with a near-certain risk of colorectal cancer without treatment; includes APC-related FAP and MUTYH-, NTHL1- and MSH3-related polyposis.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How POLE is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where POLE sits. POLE and 16 genes near it on chromosome 12, from 132,155,552 to 133,155,551.Chromosome 1212q24.33p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33132.2 Mb132.4 Mb132.6 Mb132.8 Mb133 MbGALNT9: 132,195,855–132,329,616, reverse strandGALNT9FBRSL1: 132,489,551–132,585,188, forward strandFBRSL1LRCOL1: 132,603,096–132,610,583, reverse strandLRCOL1P2RX2: 132,618,771–132,622,388, forward strandP2RX2POLE: 132,623,762–132,687,342, reverse strandPOLEPXMP2: 132,687,571–132,708,576, forward strandPXMP2PGAM5: 132,710,782–132,722,734, forward strandPGAM5ANKLE2: 132,725,500–132,762,094, reverse strandANKLE2GOLGA3: 132,768,902–132,829,143, reverse strandGOLGA3CHFR: 132,822,187–132,956,304, reverse strandCHFRZNF605: 132,918,306–132,956,330, reverse strandZNF605ZNF26: 132,986,185–133,032,952, forward strandZNF26ZNF84: 133,037,262–133,063,304, forward strandZNF84ZNF140: 133,080,388–133,107,981, forward strandZNF140ZNF891: 133,104,779–133,130,485, reverse strandZNF891ZNF10: 133,130,349–133,159,465, forward strandZNF10: 133,130,984–133,202,369, forward strandDiagram of POLE: 49 exons on the reverse strand of chromosome 12Exon 47: 2 known disease-causing sitesExon 46: 1 known disease-causing siteExon 44: 1 known disease-causing siteExon 43: 2 known disease-causing sitesExon 41: 1 known disease-causing siteExon 39: 1 known disease-causing siteExon 38: 1 known disease-causing siteExon 34: 2 known disease-causing sitesExon 30: 1 known disease-causing siteExon 28: 1 known disease-causing siteExon 27: 1 known disease-causing siteExon 24: 2 known disease-causing sitesExon 19: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 49: 132,623,762–132,624,810, 1,049 basesExon 48: 132,624,905–132,624,994, 90 basesExon 47: 132,625,645–132,625,770, 126 basesExon 46: 132,626,117–132,626,317, 201 basesExon 45: 132,632,315–132,632,508, 194 basesExon 44: 132,632,664–132,632,795, 132 basesExon 43: 132,634,186–132,634,378, 193 basesExon 42: 132,635,892–132,636,024, 133 basesExon 41: 132,638,014–132,638,139, 126 basesExon 40: 132,639,125–132,639,298, 174 basesExon 39: 132,641,647–132,641,851, 205 basesExon 38: 132,642,177–132,642,397, 221 basesExon 37: 132,642,506–132,642,729, 224 basesExon 36: 132,642,820–132,642,996, 177 basesExon 35: 132,643,224–132,643,330, 107 basesExon 34: 132,643,407–132,643,560, 154 basesExon 33: 132,643,837–132,643,977, 141 basesExon 32: 132,648,929–132,649,072, 144 basesExon 31: 132,649,306–132,649,515, 210 basesExon 30: 132,649,677–132,649,889, 213 basesExon 29: 132,657,136–132,657,258, 123 basesExon 28: 132,657,349–132,657,429, 81 basesExon 27: 132,657,868–132,657,970, 103 basesExon 26: 132,659,295–132,659,509, 215 basesExon 25: 132,660,969–132,661,164, 196 basesExon 24: 132,661,527–132,661,684, 158 basesExon 23: 132,664,004–132,664,148, 145 basesExon 22: 132,664,370–132,664,462, 93 basesExon 21: 132,665,302–132,665,450, 149 basesExon 20: 132,667,503–132,667,648, 146 basesExon 19: 132,668,356–132,668,502, 147 basesExon 18: 132,668,635–132,668,737, 103 basesExon 17: 132,668,811–132,668,939, 129 basesExon 16: 132,672,215–132,672,322, 108 basesExon 15: 132,672,627–132,672,839, 213 basesExon 14: 132,673,164–132,673,277, 114 basesExon 13: 132,673,575–132,673,707, 133 basesExon 12: 132,675,398–132,675,517, 120 basesExon 11: 132,675,735–132,675,820, 86 basesExon 10: 132,676,094–132,676,204, 111 basesExon 9: 132,676,546–132,676,653, 108 basesExon 8: 132,677,363–132,677,443, 81 basesExon 7: 132,677,578–132,677,719, 142 basesExon 6: 132,679,497–132,679,651, 155 basesExon 5: 132,679,954–132,680,046, 93 basesExon 4: 132,680,178–132,680,222, 45 basesExon 3: 132,680,607–132,680,687, 81 basesExon 2: 132,681,138–132,681,279, 142 basesExon 1: 132,687,254–132,687,342, 89 bases494540353025201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 7.8 kb of the gene's 63.6 kb; 6,861 of those bases code for the protein.

How a genome test reads POLE

40

positions in POLE where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 63.6 kb of POLE, introns included, not only the 7.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). POLE gene: DNA polymerase epsilon, catalytic subunit. Retrieved 16 October 2026, from https://dantelabs.com/genes/pole

Vancouver

Dante Labs. POLE gene: DNA polymerase epsilon, catalytic subunit [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pole

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