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Gene

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

Summary

Cytogenetic location
19q13.32
Coordinates
Chromosome 19: 45,349,837–45,370,573 (GRCh38)
Exons
23 exons across 20.7 kb
Protein
760 amino acids
Inheritance
Autosomal recessive
Also known as
MAG, EM9, MGC102762, MGC126218, MGC126219
Previous symbols
XPD
MANE Select transcript
ENST00000391945.10NM_000400.4
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

  • DNA Repair Disease

    • Autosomal recessive

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

      • ClinGen rates the link definitive
      • 7 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.

      • 1 GenCC submitter rates 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 ERCC2 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 ERCC2 sits. ERCC2 and 41 genes near it on chromosome 19, from 44,860,205 to 45,860,204.Chromosome 1919q13.32p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4345 Mb45.2 Mb45.4 Mb45.6 Mb45.8 MbNECTIN2: 44,846,175–44,890,134, forward strandNECTIN2TOMM40: 44,890,569–44,903,695, forward strandAPOE: 44,903,787–44,909,396, forward strandAPOC1: 44,913,133–44,920,054, forward strandAPOC1APOC2: 44,936,126–44,949,585, forward strandAPOC2APOC4: 44,942,234–44,945,496, forward strandAPOC4APOC4-APOC2: 44,942,238–44,949,565, forward strandAPOC4-APOC2CLPTM1: 44,954,585–44,993,342, forward strandCLPTM1RELB: 45,001,431–45,038,194, forward strandRELBCLASRP: 45,039,042–45,070,956, forward strandCLASRPZNF296: 45,071,500–45,076,485, reverse strandZNF296GEMIN7: 45,075,575–45,091,518, forward strandGEMIN7MARK4: 45,079,288–45,305,284, forward strandMARK4PPP1R37: 45,091,396–45,148,077, forward strandNKPD1: 45,149,744–45,160,982, reverse strandNKPD1BLOC1S3: 45,152,811–45,216,933, forward strandBLOC1S3TRAPPC6A: 45,162,928–45,178,268, reverse strandTRAPPC6AEXOC3L2: 45,210,600–45,245,429, reverse strandEXOC3L2CKM: 45,306,411–45,323,372, reverse strandCKMKLC3: 45,333,434–45,351,537, forward strandKLC3ERCC2: 45,349,837–45,370,573, reverse strandERCC2PPP1R13L: 45,379,634–45,406,367, reverse strandPPP1R13LPOLR1G: 45,406,644–45,410,737, forward strandPOLR1GERCC1: 45,407,333–45,479,055, reverse strandERCC1FOSB: 45,467,989–45,475,179, forward strandFOSBRTN2: 45,485,292–45,497,055, reverse strandRTN2PPM1N: 45,488,777–45,503,129, forward strandPPM1NVASP: 45,506,579–45,527,839, forward strandVASPOPA3: 45,527,767–45,602,212, reverse strandOPA3GPR4: 45,588,565–45,602,556, reverse strandGPR4EML2: 45,606,994–45,645,617, reverse strandEML2GIPR: 45,668,207–45,683,722, forward strandGIPRSNRPD2: 45,677,907–45,692,569, reverse strandSNRPD2QPCTL: 45,692,403–45,703,989, forward strandQPCTLFBXO46: 45,710,624–45,730,931, reverse strandFBXO46MEIOSIN: 45,733,439–45,764,541, forward strandMEIOSINSIX5: 45,764,767–45,769,252, reverse strandSIX5DMPK: 45,769,709–45,782,794, reverse strandDMPK: 45,779,437–45,785,973, reverse strandDMWD: 45,782,944–45,792,949, reverse strandRSPH6A: 45,795,713–45,815,308, reverse strandSYMPK: 45,815,410–45,866,862, reverse strandSYMPKDiagram of ERCC2: 23 exons on the reverse strand of chromosome 19Exon 22: 18 known disease-causing sitesExon 21: 17 known disease-causing sitesExon 20: 8 known disease-causing sitesExon 19: 6 known disease-causing sitesExon 18: 5 known disease-causing sitesExon 17: 8 known disease-causing sitesExon 16: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 14: 3 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 11: 7 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 7: 5 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 23: 45,349,837–45,351,721, 1,885 basesExon 22: 45,352,209–45,352,352, 144 basesExon 21: 45,352,506–45,352,649, 144 basesExon 20: 45,352,746–45,352,816, 71 basesExon 19: 45,353,083–45,353,155, 73 basesExon 18: 45,353,242–45,353,334, 93 basesExon 17: 45,354,730–45,354,851, 122 basesExon 16: 45,355,665–45,355,728, 64 basesExon 15: 45,357,270–45,357,371, 102 basesExon 14: 45,357,474–45,357,543, 70 basesExon 13: 45,357,630–45,357,699, 70 basesExon 12: 45,361,524–45,361,642, 119 basesExon 11: 45,363,743–45,363,911, 169 basesExon 10: 45,363,986–45,364,119, 134 basesExon 9: 45,364,235–45,364,331, 97 basesExon 8: 45,364,424–45,364,547, 124 basesExon 7: 45,364,838–45,364,954, 117 basesExon 6: 45,365,042–45,365,158, 117 basesExon 5: 45,368,630–45,368,743, 114 basesExon 4: 45,368,930–45,368,992, 63 basesExon 3: 45,369,070–45,369,147, 78 basesExon 2: 45,370,133–45,370,232, 100 basesExon 1: 45,370,536–45,370,573, 38 bases2322201816141210864215′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 4.1 kb of the gene's 20.7 kb; 2,283 of those bases code for the protein.

How a genome test reads ERCC2

151

positions in ERCC2 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 20.7 kb of ERCC2, introns included, not only the 4.1 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.). ERCC2 gene: ERCC excision repair 2, TFIIH core complex helicase subunit. Retrieved 16 October 2026, from https://dantelabs.com/genes/ercc2

Vancouver

Dante Labs. ERCC2 gene: ERCC excision repair 2, TFIIH core complex helicase subunit [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ercc2

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