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Gene

NBN

nibrin

Summary

Cytogenetic location
8q21.3
Coordinates
Chromosome 8: 89,933,331–89,984,667 (GRCh38)
Exons
16 exons across 51.3 kb
Protein
754 amino acids
Inheritance
Autosomal recessive
Also known as
ATV, AT-V2, AT-V1
Previous symbols
NBS, NBS1
MANE Select transcript
ENST00000265433.8NM_002485.5
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
      • 6 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 NBN is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where NBN sits. NBN and 4 genes near it on chromosome 8, from 89,458,999 to 90,458,998.Chromosome 88q21.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.389.6 Mb89.8 Mb90 Mb90.2 Mb90.4 MbRIPK2: 89,757,733–89,791,847, forward strandRIPK2OSGIN2: 89,901,849–89,927,888, forward strandOSGIN2NBN: 89,933,331–89,984,667, reverse strandNBNDECR1: 90,001,330–90,072,414, forward strandDECR1CALB1: 90,058,608–90,095,475, reverse strandCALB1Diagram of NBN: 16 exons on the reverse strand of chromosome 8Exon 16: 2 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 14: 33 known disease-causing sitesExon 13: 20 known disease-causing sitesExon 12: 13 known disease-causing sitesExon 11: 63 known disease-causing sitesExon 10: 40 known disease-causing sitesExon 9: 17 known disease-causing sitesExon 8: 11 known disease-causing sitesExon 7: 35 known disease-causing sitesExon 6: 13 known disease-causing sitesExon 5: 16 known disease-causing sitesExon 4: 21 known disease-causing sitesExon 3: 31 known disease-causing sitesExon 2: 25 known disease-causing sitesExon 1: 10 known disease-causing sitesExon 16: 89,933,331–89,935,612, 2,282 basesExon 15: 89,937,026–89,937,075, 50 basesExon 14: 89,943,253–89,943,366, 114 basesExon 13: 89,946,140–89,946,295, 156 basesExon 12: 89,947,824–89,947,892, 69 basesExon 11: 89,953,244–89,953,691, 448 basesExon 10: 89,955,283–89,955,555, 273 basesExon 9: 89,958,725–89,958,854, 130 basesExon 8: 89,964,410–89,964,507, 98 basesExon 7: 89,970,364–89,970,557, 194 basesExon 6: 89,971,173–89,971,290, 118 basesExon 5: 89,978,220–89,978,323, 104 basesExon 4: 89,980,734–89,980,893, 160 basesExon 3: 89,981,375–89,981,523, 149 basesExon 2: 89,982,722–89,982,855, 134 basesExon 1: 89,984,525–89,984,667, 143 bases16141210864215′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 4.6 kb of the gene's 51.3 kb; 2,265 of those bases code for the protein.

How a genome test reads NBN

415

positions in NBN 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 51.3 kb of NBN, introns included, not only the 4.6 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.). NBN gene: nibrin. Retrieved 16 October 2026, from https://dantelabs.com/genes/nbn

Vancouver

Dante Labs. NBN gene: nibrin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/nbn

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