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Gene

POLH

DNA polymerase eta

Summary

Cytogenetic location
6p21.1
Coordinates
Chromosome 6: 43,576,185–43,620,523 (GRCh38)
Exons
11 exons across 44.3 kb
Protein
713 amino acids
Inheritance
Autosomal recessive
Also known as
XPV, RAD30A, XP-V
MANE Select transcript
ENST00000372236.9NM_006502.3
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

  • DNA Repair Disease

    • Autosomal recessive

      A disease that has its basis in the disruption of DNA repair.

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

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How POLH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where POLH sits. POLH and 22 genes near it on chromosome 6, from 43,098,354 to 44,098,353.Chromosome 66p21.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2743.2 Mb43.4 Mb43.6 Mb43.8 Mb44 MbPTK7: 43,076,256–43,161,719, forward strandPTK7SRF: 43,170,910–43,181,506, forward strandSRFCUL9: 43,182,166–43,224,587, forward strandCUL9DNPH1: 43,225,629–43,229,490, reverse strandDNPH1TTBK1: 43,243,481–43,288,258, forward strandTTBK1SLC22A7: 43,295,694–43,305,543, forward strandSLC22A7CRIP3: 43,299,710–43,308,878, reverse strandCRIP3ZNF318: 43,307,134–43,369,687, reverse strandZNF318ABCC10: 43,427,366–43,451,783, forward strandABCC10DLK2: 43,450,351–43,456,632, reverse strandDLK2TJAP1: 43,477,523–43,506,562, forward strandLRRC73: 43,506,062–43,510,388, reverse strandLRRC73POLR1C: 43,509,702–43,562,419, forward strandPOLR1CYIPF3: 43,511,200–43,516,985, reverse strandYIPF3XPO5: 43,522,334–43,576,091, reverse strandXPO5POLH: 43,576,185–43,620,523, forward strandPOLHGTPBP2: 43,605,316–43,629,291, reverse strandGTPBP2MAD2L1BP: 43,629,494–43,640,960, forward strandMAD2L1BPRSPH9: 43,644,229–43,674,358, forward strandRSPH9MRPS18A: 43,669,978–43,687,954, reverse strandMRPS18AVEGFA: 43,770,184–43,786,487, forward strandVEGFALINC03040: 44,000,580–44,007,830, forward strandLINC03040MRPL14: 44,078,275–44,134,339, reverse strandMRPL14Diagram of POLH: 11 exons on the forward strand of chromosome 6Exon 2: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 5: 5 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 1: 43,576,185–43,576,440, 256 basesExon 2: 43,582,316–43,582,456, 141 basesExon 3: 43,583,007–43,583,141, 135 basesExon 4: 43,587,272–43,587,489, 218 basesExon 5: 43,597,696–43,597,865, 170 basesExon 6: 43,600,988–43,601,091, 104 basesExon 7: 43,603,892–43,604,011, 120 basesExon 8: 43,604,615–43,604,738, 124 basesExon 9: 43,605,254–43,605,319, 66 basesExon 10: 43,610,554–43,610,723, 170 basesExon 11: 43,613,660–43,620,523, 6,864 bases1246810115′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 8.4 kb of the gene's 44.3 kb; 2,142 of those bases code for the protein.

How a genome test reads POLH

21

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

1 of them (4.8%) falls in a region short reads find hard.

  • Segmental duplications (1 site)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 44.3 kb of POLH, introns included, not only the 8.4 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.). POLH gene: DNA polymerase eta. Retrieved 17 October 2026, from https://dantelabs.com/genes/polh

Vancouver

Dante Labs. POLH gene: DNA polymerase eta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/polh

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