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Gene

ERCC5

ERCC excision repair 5, endonuclease

Summary

Cytogenetic location
13q33.1
Coordinates
Chromosome 13: 102,846,032–102,875,995 (GRCh38)
Exons
15 exons across 30 kb
Protein
1,186 amino acids
Inheritance
Autosomal recessive
Previous symbols
ERCM2, XPGC
MANE Select transcript
ENST00000652225.2NM_000123.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

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
      • 6 GenCC submitters rate it definitive or strong

  • Microphthalmia, Anophthalmia & Coloboma

    • Syndromic Microphthalmia

      Microphthalmia occurring with features outside the eye, caused by changes in genes such as SOX2, OTX2, BCOR, STRA6 and BMP4.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      A genetic diagnosis guides checks for associated features, such as pituitary hormone problems with SOX2 or OTX2, and informs recurrence risk.

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 ERCC5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 13, with a bracket where ERCC5 sits. ERCC5 and 10 genes near it on chromosome 13, from 102,361,014 to 103,361,013.Chromosome 1313q33.1p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34102.4 Mb102.6 Mb102.8 Mb103 Mb103.2 MbFGF14: 101,710,804–102,402,457, reverse strandFGF14TPP2: 102,596,936–102,679,958, forward strandTPP2METTL21C: 102,684,835–102,695,044, reverse strandMETTL21CLRTM3: 102,729,367–102,759,072, reverse strandLRTM3TEX30: 102,765,816–102,775,375, reverse strandTEX30POGLUT2: 102,784,281–102,800,318, reverse strandPOGLUT2BIVM: 102,799,101–102,841,748, forward strandBIVMBIVM-ERCC5: 102,799,110–102,875,994, forward strandBIVM-ERCC5ERCC5: 102,846,032–102,875,995, forward strandERCC5METTL21EP: 102,880,040–102,896,033, forward strandMETTL21EPSLC10A2: 103,043,998–103,066,417, reverse strandSLC10A2Diagram of ERCC5: 15 exons on the forward strand of chromosome 13Exon 2: 3 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 8: 11 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 11: 9 known disease-causing sitesExon 12: 1 known disease-causing siteExon 13: 7 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 15: 1 known disease-causing siteExon 1: 102,846,032–102,846,354, 323 basesExon 2: 102,852,118–102,852,293, 176 basesExon 3: 102,853,757–102,853,872, 116 basesExon 4: 102,854,288–102,854,374, 87 basesExon 5: 102,856,052–102,856,112, 61 basesExon 6: 102,858,275–102,858,418, 144 basesExon 7: 102,861,507–102,861,714, 208 basesExon 8: 102,862,030–102,863,103, 1,074 basesExon 9: 102,865,667–102,865,911, 245 basesExon 10: 102,866,262–102,866,381, 120 basesExon 11: 102,866,632–102,866,845, 214 basesExon 12: 102,868,113–102,868,257, 145 basesExon 13: 102,872,198–102,872,398, 201 basesExon 14: 102,873,259–102,873,343, 85 basesExon 15: 102,875,307–102,875,995, 689 bases12468101214155′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 3.9 kb of the gene's 30 kb; 3,561 of those bases code for the protein.

How a genome test reads ERCC5

48

positions in ERCC5 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 30 kb of ERCC5, introns included, not only the 3.9 kb of exons.

Genes linked to the same conditions

Traits linked to ERCC5

The Human Phenotype Ontology lists these as features of the rare conditions ERCC5 can cause. Each trait's page lists the other genes linked to it.

External links

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.). ERCC5 gene: ERCC excision repair 5, endonuclease. Retrieved 17 October 2026, from https://dantelabs.com/genes/ercc5

Vancouver

Dante Labs. ERCC5 gene: ERCC excision repair 5, endonuclease [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ercc5

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