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Gene

POLD1

DNA polymerase delta 1, catalytic subunit

Summary

Cytogenetic location
19q13.33
Coordinates
Chromosome 19: 50,384,347–50,418,014 (GRCh38)
Exons
27 exons across 33.7 kb
Protein
1,107 amino acids
Inheritance
Autosomal dominant
Also known as
CDC2
Previous symbols
POLD
MANE Select transcript
ENST00000440232.7NM_002691.4
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 reports relevant to this gene

  • Colorectal Cancer & Polyposis

    • Colorectal Cancer, Susceptibility To, 10Autosomal dominant

      Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
    • Polymerase Proofreading-Related Adenomatous PolyposisAutosomal dominant
      • ClinGen rates the link definitive
      • 4 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
      • 4 GenCC submitters rate it definitive or strong

Broader groupings

  • Other Inborn Errors of Immunity

    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

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 POLD1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where POLD1 sits. POLD1 and 32 genes near it on chromosome 19, from 49,901,181 to 50,901,180.Chromosome 1919q13.33p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4350 Mb50.2 Mb50.4 Mb50.6 Mb50.8 MbIL4I1: 49,889,654–49,929,926, reverse strandNUP62: 49,906,825–49,929,926, reverse strand: 49,909,501–49,958,391, reverse strandATF5: 49,923,910–49,933,935, forward strandATF5SIGLEC11: 49,948,910–49,961,172, reverse strandSIGLEC11SIGLEC16: 49,969,600–49,975,819, forward strandSIGLEC16VRK3: 49,974,537–50,025,946, reverse strandVRK3ZNF473: 50,025,714–50,053,414, forward strandZNF473IZUMO2: 50,152,537–50,163,281, reverse strandIZUMO2MYH14: 50,188,181–50,310,545, forward strandMYH14KCNC3: 50,311,937–50,333,515, reverse strandKCNC3NR1H2: 50,329,639–50,383,404, forward strandNR1H2NAPSA: 50,358,472–50,369,342, reverse strandNAPSAPOLD1: 50,384,347–50,418,014, forward strandPOLD1: 50,415,799–50,428,409, forward strandSPIB: 50,418,931–50,431,314, forward strandSPIBMYBPC2: 50,432,772–50,466,328, forward strandMYBPC2GARIN5A: 50,466,785–50,476,866, reverse strandGARIN5AEMC10: 50,476,400–50,510,789, forward strandEMC10JOSD2: 50,505,995–50,511,376, reverse strandJOSD2ASPDH: 50,511,568–50,514,696, reverse strandASPDHLRRC4B: 50,516,892–50,568,435, reverse strandLRRC4BSYT3: 50,621,307–50,640,040, reverse strandSYT3C19orf81: 50,648,792–50,659,310, forward strandC19orf81SHANK1: 50,659,255–50,719,802, reverse strandSHANK1CLEC11A: 50,723,283–50,725,719, forward strandCLEC11AGPR32: 50,770,464–50,771,732, forward strandGPR32SMIM47: 50,776,141–50,793,142, reverse strandSMIM47ACP4: 50,790,415–50,795,219, forward strandACP4KLK1: 50,819,146–50,823,787, reverse strandKLK1KLK15: 50,825,289–50,837,213, reverse strandKLK15KLK3: 50,854,915–50,860,767, forward strandKLK3KLK2: 50,861,568–50,880,567, forward strandKLK2Diagram of POLD1: 27 exons on the forward strand of chromosome 19Exon 12: 3 known disease-causing sitesExon 13: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 26: 2 known disease-causing sitesExon 27: 1 known disease-causing siteExon 1: 50,384,347–50,384,390, 44 basesExon 2: 50,398,851–50,399,053, 203 basesExon 3: 50,399,371–50,399,484, 114 basesExon 4: 50,401,778–50,401,924, 147 basesExon 5: 50,401,999–50,402,124, 126 basesExon 6: 50,402,205–50,402,373, 169 basesExon 7: 50,402,454–50,402,535, 82 basesExon 8: 50,402,612–50,402,741, 130 basesExon 9: 50,403,053–50,403,219, 167 basesExon 10: 50,403,493–50,403,597, 105 basesExon 11: 50,406,182–50,406,322, 141 basesExon 12: 50,406,407–50,406,517, 111 basesExon 13: 50,406,983–50,407,174, 192 basesExon 14: 50,407,327–50,407,415, 89 basesExon 15: 50,408,785–50,408,901, 117 basesExon 16: 50,409,122–50,409,235, 114 basesExon 17: 50,409,519–50,409,666, 148 basesExon 18: 50,413,426–50,413,521, 96 basesExon 19: 50,413,742–50,413,879, 138 basesExon 20: 50,414,815–50,414,990, 176 basesExon 21: 50,415,438–50,415,590, 153 basesExon 22: 50,415,724–50,415,826, 103 basesExon 23: 50,416,396–50,416,528, 133 basesExon 24: 50,416,610–50,416,723, 114 basesExon 25: 50,417,045–50,417,097, 53 basesExon 26: 50,417,172–50,417,269, 98 basesExon 27: 50,417,842–50,418,014, 173 bases1510152025275′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 3.4 kb of the gene's 33.7 kb; 3,324 of those bases code for the protein.

How a genome test reads POLD1

8

positions in POLD1 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 33.7 kb of POLD1, introns included, not only the 3.4 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.). POLD1 gene: DNA polymerase delta 1, catalytic subunit. Retrieved 16 October 2026, from https://dantelabs.com/genes/pold1

Vancouver

Dante Labs. POLD1 gene: DNA polymerase delta 1, catalytic subunit [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pold1

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