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Gene

ERCC6L2

ERCC excision repair 6 like 2

Summary

Cytogenetic location
9q22.32
Coordinates
Chromosome 9: 95,875,691–96,018,447 (GRCh38)
Exons
19 exons across 142.8 kb
Protein
1,550 amino acids
Also known as
FLJ37706, RAD26L, HEBO
Previous symbols
C9orf102
MANE Select transcript
ENST00000653738.2NM_020207.7
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

  • Rare Inherited Bone Marrow Failure Syndromes

    • Bone Marrow Failure Syndrome

      A group of rare conditions linked to genes such as DNAJC21, MYSM1 and SRP72, and to combined ADH5 and ALDH2 deficiency (AMED syndrome), causing low blood counts, sometimes with developmental or other features.

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

      A diagnosis informs the choice of related stem cell donors and transplant preparation, and supports monitoring for myelodysplastic syndrome and leukaemia.

How ERCC6L2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where ERCC6L2 sits. ERCC6L2 and 5 genes near it on chromosome 9, from 95,447,069 to 96,447,068.Chromosome 99q22.32p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.395.6 Mb95.8 Mb96 Mb96.2 Mb96.4 MbPTCH1: 95,442,980–95,517,057, reverse strandPTCH1ERCC6L2: 95,875,691–96,018,447, forward strandERCC6L2HSD17B3: 96,235,306–96,302,219, reverse strandHSD17B3: 96,235,331–96,352,058, reverse strandSLC35D2: 96,312,092–96,383,845, reverse strandSLC35D2ZNF367: 96,385,838–96,418,470, reverse strandZNF367Diagram of ERCC6L2: 19 exons on the forward strand of chromosome 9Exon 1: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 15: 2 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 18: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 1: 95,875,691–95,876,084, 394 basesExon 2: 95,880,869–95,881,293, 425 basesExon 3: 95,897,849–95,897,971, 123 basesExon 4: 95,907,078–95,907,271, 194 basesExon 5: 95,915,668–95,915,829, 162 basesExon 6: 95,916,227–95,916,434, 208 basesExon 7: 95,921,175–95,921,315, 141 basesExon 8: 95,922,305–95,922,418, 114 basesExon 9: 95,923,260–95,923,379, 120 basesExon 10: 95,928,079–95,928,150, 72 basesExon 11: 95,928,719–95,928,864, 146 basesExon 12: 95,941,454–95,941,549, 96 basesExon 13: 95,955,914–95,956,013, 100 basesExon 14: 95,966,562–95,966,714, 153 basesExon 15: 95,970,576–95,970,656, 81 basesExon 16: 95,971,933–95,973,088, 1,156 basesExon 17: 95,978,061–95,978,215, 155 basesExon 18: 96,004,520–96,004,701, 182 basesExon 19: 96,012,225–96,018,447, 6,223 bases124681012141618195′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 10.2 kb of the gene's 142.8 kb; 4,653 of those bases code for the protein.

How a genome test reads ERCC6L2

14

positions in ERCC6L2 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 142.8 kb of ERCC6L2, introns included, not only the 10.2 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.). ERCC6L2 gene: ERCC excision repair 6 like 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/ercc6l2

Vancouver

Dante Labs. ERCC6L2 gene: ERCC excision repair 6 like 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ercc6l2

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