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Gene

NBAS

NBAS subunit of NRZ tethering complex

Summary

Cytogenetic location
2p24.3
Coordinates
Chromosome 2: 15,166,916–15,561,334 (GRCh38)
Exons
52 exons across 394.4 kb
Protein
2,371 amino acids
Also known as
NAG
MANE Select transcript
ENST00000281513.10NM_015909.4
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

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • 1 GenCC submitter rates it definitive or strong

How NBAS 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 NBAS sits. NBAS and 2 genes near it on chromosome 2, from 14,772,497 to 15,955,753.Chromosome 22p24.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.314.8 Mb15 Mb15.2 Mb15.4 Mb15.6 Mb15.8 MbNBAS: 15,166,916–15,561,334, reverse strandNBASDDX1: 15,591,178–15,634,346, forward strandDDX1MYCN: 15,938,396–15,947,022, forward strandMYCNDiagram of NBAS: 52 exons on the reverse strand of chromosome 2Exon 52: 1 known disease-causing siteExon 51: 2 known disease-causing sitesExon 49: 1 known disease-causing siteExon 48: 1 known disease-causing siteExon 46: 2 known disease-causing sitesExon 45: 1 known disease-causing siteExon 44: 3 known disease-causing sitesExon 43: 3 known disease-causing sitesExon 42: 2 known disease-causing sitesExon 41: 1 known disease-causing siteExon 40: 1 known disease-causing siteExon 36: 5 known disease-causing sitesExon 34: 1 known disease-causing siteExon 33: 2 known disease-causing sitesExon 32: 1 known disease-causing siteExon 30: 3 known disease-causing sitesExon 29: 1 known disease-causing siteExon 28: 2 known disease-causing sitesExon 27: 1 known disease-causing siteExon 26: 2 known disease-causing sitesExon 25: 4 known disease-causing sitesExon 24: 5 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 19: 1 known disease-causing siteExon 18: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 15: 3 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 9: 3 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 6: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 1: 3 known disease-causing sitesExon 52: 15,166,916–15,167,323, 408 basesExon 51: 15,178,988–15,179,116, 129 basesExon 50: 15,186,742–15,186,880, 139 basesExon 49: 15,190,264–15,190,403, 140 basesExon 48: 15,218,773–15,218,968, 196 basesExon 47: 15,232,422–15,232,511, 90 basesExon 46: 15,234,545–15,234,747, 203 basesExon 45: 15,238,468–15,238,686, 219 basesExon 44: 15,275,484–15,275,818, 335 basesExon 43: 15,276,851–15,277,101, 251 basesExon 42: 15,287,073–15,287,183, 111 basesExon 41: 15,292,537–15,292,766, 230 basesExon 40: 15,308,216–15,308,353, 138 basesExon 39: 15,309,171–15,309,247, 77 basesExon 38: 15,327,750–15,327,870, 121 basesExon 37: 15,328,199–15,328,312, 114 basesExon 36: 15,330,598–15,330,765, 168 basesExon 35: 15,351,992–15,352,081, 90 basesExon 34: 15,353,553–15,353,710, 158 basesExon 33: 15,356,303–15,356,416, 114 basesExon 32: 15,366,580–15,366,693, 114 basesExon 31: 15,374,608–15,374,720, 113 basesExon 30: 15,379,602–15,379,831, 230 basesExon 29: 15,383,215–15,383,317, 103 basesExon 28: 15,394,227–15,394,349, 123 basesExon 27: 15,396,413–15,396,475, 63 basesExon 26: 15,402,168–15,402,301, 134 basesExon 25: 15,415,546–15,415,719, 174 basesExon 24: 15,417,527–15,417,712, 186 basesExon 23: 15,424,315–15,424,468, 154 basesExon 22: 15,427,711–15,427,794, 84 basesExon 21: 15,461,201–15,461,337, 137 basesExon 20: 15,461,687–15,461,791, 105 basesExon 19: 15,467,329–15,467,407, 79 basesExon 18: 15,467,664–15,467,804, 141 basesExon 17: 15,468,382–15,468,533, 152 basesExon 16: 15,473,222–15,473,347, 126 basesExon 15: 15,474,067–15,474,324, 258 basesExon 14: 15,475,687–15,475,880, 194 basesExon 13: 15,478,226–15,478,289, 64 basesExon 12: 15,488,894–15,489,022, 129 basesExon 11: 15,504,145–15,504,213, 69 basesExon 10: 15,511,212–15,511,350, 139 basesExon 9: 15,534,543–15,534,641, 99 basesExon 8: 15,536,418–15,536,551, 134 basesExon 7: 15,539,223–15,539,356, 134 basesExon 6: 15,551,493–15,551,536, 44 basesExon 5: 15,553,426–15,553,473, 48 basesExon 4: 15,554,061–15,554,138, 78 basesExon 3: 15,556,783–15,556,819, 37 basesExon 2: 15,558,580–15,558,634, 55 basesExon 1: 15,561,188–15,561,334, 147 bases52504540353025201510515′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 7.3 kb of the gene's 394.4 kb; 7,116 of those bases code for the protein.

How a genome test reads NBAS

82

positions in NBAS 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 394.4 kb of NBAS, introns included, not only the 7.3 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.). NBAS gene: NBAS subunit of NRZ tethering complex. Retrieved 16 October 2026, from https://dantelabs.com/genes/nbas

Vancouver

Dante Labs. NBAS gene: NBAS subunit of NRZ tethering complex [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/nbas

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