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Gene

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

Summary

Cytogenetic location
16p13.12
Coordinates
Chromosome 16: 13,920,154–13,952,348 (GRCh38)
Exons
11 exons across 32.2 kb
Protein
916 amino acids
Inheritance
Autosomal recessive
Also known as
RAD1, FANCQ
Previous symbols
XPF
MANE Select transcript
ENST00000311895.8NM_005236.3
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 reports 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

  • Fanconi Anemia

    • Autosomal recessive

      Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Hematopoietic stem cell transplantation using FA-specific reduced-intensity conditioning; androgens (oxymetholone) as bridge therapy; cancer surveillance for head/neck and gynecological malignancies; gene therapy in clinical trials

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 ERCC4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where ERCC4 sits. ERCC4 and 2 genes near it on chromosome 16, from 13,436,251 to 14,436,250.Chromosome 1616p13.12p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.313.6 Mb13.8 Mb14 Mb14.2 Mb14.4 MbERCC4: 13,920,154–13,952,348, forward strandERCC4MRTFB: 14,071,058–14,266,778, forward strandMRTFBPARN: 14,435,699–14,632,728, reverse strandPARNDiagram of ERCC4: 11 exons on the forward strand of chromosome 16Exon 1: 6 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 7: 1 known disease-causing siteExon 8: 11 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 11: 9 known disease-causing sitesExon 1: 13,920,154–13,920,372, 219 basesExon 2: 13,922,031–13,922,211, 181 basesExon 3: 13,926,561–13,926,756, 196 basesExon 4: 13,928,028–13,928,235, 208 basesExon 5: 13,930,710–13,930,890, 181 basesExon 6: 13,932,157–13,932,285, 129 basesExon 7: 13,934,192–13,934,302, 111 basesExon 8: 13,935,146–13,935,743, 598 basesExon 9: 13,937,766–13,937,858, 93 basesExon 10: 13,944,723–13,944,835, 113 basesExon 11: 13,947,614–13,952,348, 4,735 bases12345678910115′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 6.8 kb of the gene's 32.2 kb; 2,751 of those bases code for the protein.

How a genome test reads ERCC4

55

positions in ERCC4 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 32.2 kb of ERCC4, introns included, not only the 6.8 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.). ERCC4 gene: ERCC excision repair 4, endonuclease catalytic subunit. Retrieved 17 October 2026, from https://dantelabs.com/genes/ercc4

Vancouver

Dante Labs. ERCC4 gene: ERCC excision repair 4, endonuclease catalytic subunit [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ercc4

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