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Gene

DDB2

damage specific DNA binding protein 2

Summary

Cytogenetic location
11p11.2
Coordinates
Chromosome 11: 47,214,974–47,239,217 (GRCh38)
Exons
10 exons across 24.2 kb
Protein
427 amino acids
Inheritance
Autosomal recessive
Also known as
DDBB, UV-DDB2, FLJ34321, XPE
MANE Select transcript
ENST00000256996.9NM_000107.3
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 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 DDB2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where DDB2 sits. DDB2 and 23 genes near it on chromosome 11, from 46,727,096 to 47,727,095.Chromosome 1111p11.2p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2546.8 Mb47 Mb47.2 Mb47.4 Mb47.6 MbF2: 46,719,079–46,768,566, forward strandF2CKAP5: 46,742,768–46,846,308, reverse strandCKAP5LRP4: 46,856,717–46,918,642, reverse strandLRP4CSTPP1: 46,936,689–47,165,535, forward strandCSTPP1ARFGAP2: 47,135,667–47,177,474, reverse strandARFGAP2PACSIN3: 47,177,511–47,187,487, reverse strandPACSIN3DDB2: 47,214,974–47,239,217, forward strandDDB2ACP2: 47,237,598–47,249,288, reverse strandACP2NR1H3: 47,248,300–47,269,131, forward strandNR1H3MADD: 47,269,161–47,330,038, forward strandMADDMYBPC3: 47,331,406–47,352,702, reverse strandMYBPC3SPI1: 47,354,860–47,409,369, reverse strandSPI1SLC39A13: 47,407,132–47,416,587, forward strandSLC39A13PSMC3: 47,418,765–47,426,488, reverse strandPSMC3RAPSN: 47,436,816–47,449,192, reverse strandRAPSNCELF1: 47,465,933–47,565,569, reverse strandCELF1NDUFS3: 47,565,336–47,584,565, forward strandNDUFS3PTPMT1: 47,565,430–47,573,461, forward strandPTPMT1KBTBD4: 47,572,196–47,578,982, reverse strandKBTBD4FAM180B: 47,586,207–47,589,195, forward strandC1QTNF4: 47,589,666–47,595,642, reverse strandMTCH2: 47,604,339–47,642,698, reverse strandAGBL2: 47,659,591–47,715,389, reverse strandAGBL2FNBP4: 47,716,494–47,767,460, reverse strandFNBP4Diagram of DDB2: 10 exons on the forward strand of chromosome 11Exon 1: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 1: 47,214,974–47,215,263, 290 basesExon 2: 47,216,336–47,216,472, 137 basesExon 3: 47,216,858–47,217,049, 192 basesExon 4: 47,232,814–47,232,959, 146 basesExon 5: 47,234,573–47,234,672, 100 basesExon 6: 47,234,757–47,234,934, 178 basesExon 7: 47,235,270–47,235,412, 143 basesExon 8: 47,237,837–47,238,001, 165 basesExon 9: 47,238,138–47,238,183, 46 basesExon 10: 47,238,800–47,239,217, 418 bases12468105′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 1.8 kb of the gene's 24.2 kb; 1,284 of those bases code for the protein.

How a genome test reads DDB2

9

positions in DDB2 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 24.2 kb of DDB2, introns included, not only the 1.8 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.). DDB2 gene: damage specific DNA binding protein 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/ddb2

Vancouver

Dante Labs. DDB2 gene: damage specific DNA binding protein 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ddb2

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