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Gene

ERCC3

ERCC excision repair 3, TFIIH core complex helicase subunit

Summary

Cytogenetic location
2q14.3
Coordinates
Chromosome 2: 127,257,290–127,294,144 (GRCh38)
Exons
15 exons across 36.9 kb
Protein
782 amino acids
Inheritance
Autosomal recessive
Also known as
XPB, BTF2, RAD25, Ssl2
MANE Select transcript
ENST00000285398.7NM_000122.2
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 ERCC3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where ERCC3 sits. ERCC3 and 11 genes near it on chromosome 2, from 126,775,717 to 127,775,716.Chromosome 22q14.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3126.8 Mb127 Mb127.2 Mb127.4 Mb127.6 MbTEX51: 126,898,864–126,902,097, forward strandTEX51BIN1: 127,048,017–127,107,556, reverse strandBIN1CYP27C1: 127,183,832–127,220,385, reverse strandCYP27C1ERCC3: 127,257,290–127,294,144, reverse strandERCC3MAP3K2: 127,298,668–127,388,465, reverse strandMAP3K2PROC: 127,415,933–127,429,762, forward strandPROCIWS1: 127,436,207–127,526,886, reverse strandIWS1MYO7B: 127,535,683–127,637,729, forward strandMYO7BLIMS2: 127,638,381–127,681,786, reverse strandLIMS2GPR17: 127,645,864–127,656,181, forward strandGPR17WDR33: 127,701,027–127,811,195, reverse strandWDR33SFT2D3: 127,701,497–127,705,242, forward strandSFT2D3Diagram of ERCC3: 15 exons on the reverse strand of chromosome 2Exon 14: 1 known disease-causing siteExon 12: 4 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 3: 4 known disease-causing sitesExon 15: 127,257,290–127,257,727, 438 basesExon 14: 127,259,296–127,259,448, 153 basesExon 13: 127,261,228–127,261,346, 119 basesExon 12: 127,271,336–127,271,453, 118 basesExon 11: 127,272,865–127,272,961, 97 basesExon 10: 127,279,173–127,279,375, 203 basesExon 9: 127,280,447–127,280,631, 185 basesExon 8: 127,286,703–127,287,017, 315 basesExon 7: 127,288,660–127,288,864, 205 basesExon 6: 127,289,337–127,289,501, 165 basesExon 5: 127,289,689–127,289,824, 136 basesExon 4: 127,290,224–127,290,273, 50 basesExon 3: 127,292,610–127,292,846, 237 basesExon 2: 127,293,513–127,293,718, 206 basesExon 1: 127,294,054–127,294,144, 91 bases1510515′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 2.7 kb of the gene's 36.9 kb; 2,349 of those bases code for the protein.

How a genome test reads ERCC3

30

positions in ERCC3 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 36.9 kb of ERCC3, introns included, not only the 2.7 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.). ERCC3 gene: ERCC excision repair 3, TFIIH core complex helicase subunit. Retrieved 17 October 2026, from https://dantelabs.com/genes/ercc3

Vancouver

Dante Labs. ERCC3 gene: ERCC excision repair 3, TFIIH core complex helicase subunit [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ercc3

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