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Gene

BUB1B

BUB1 mitotic checkpoint serine/threonine kinase B

Summary

Cytogenetic location
15q15.1
Coordinates
Chromosome 15: 40,161,069–40,221,123 (GRCh38)
Exons
23 exons across 60.1 kb
Protein
1,050 amino acids
Also known as
BUBR1, MAD3L, Bub1A, SSK1
MANE Select transcript
ENST00000287598.11NM_001211.6
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Mosaic Variegated Aneuploidy Syndrome

    • Autosomal recessive

      Mosaic gains and losses of whole chromosomes with growth restriction, microcephaly and an increased risk of rhabdomyosarcoma, Wilms tumour and leukaemia.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      Actionability

      Childhood cancer surveillance for affected children; carriers have no expected health effects.

How BUB1B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where BUB1B sits. BUB1B and 20 genes near it on chromosome 15, from 39,691,096 to 40,691,095.Chromosome 1515q15.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.339.8 Mb40 Mb40.2 Mb40.4 Mb40.6 MbFSIP1: 39,588,357–39,782,858, reverse strandFSIP1GPR176: 39,799,003–39,920,976, reverse strandGPR176EIF2AK4: 39,934,062–40,036,656, forward strandEIF2AK4SRP14: 40,032,985–40,039,186, reverse strandSRP14BMF: 40,087,889–40,108,928, reverse strandBMFBUB1B: 40,161,069–40,221,123, forward strandBUB1BPAK6: 40,217,428–40,277,489, forward strandPAK6BUB1B-PAK6: 40,218,500–40,264,890, forward strandBUB1B-PAK6PLCB2: 40,278,176–40,307,965, reverse strandPLCB2ANKRD63: 40,278,372–40,283,064, reverse strandANKRD63INAFM2: 40,323,692–40,326,715, forward strandINAFM2CCDC9B: 40,331,452–40,340,954, reverse strandCCDC9BPHGR1: 40,351,025–40,357,622, forward strandPHGR1DISP2: 40,358,219–40,378,621, forward strandDISP2KNSTRN: 40,382,721–40,395,659, forward strandKNSTRNIVD: 40,405,485–40,435,956, forward strandIVDBAHD1: 40,436,611–40,468,242, forward strandBAHD1CHST14: 40,470,984–40,473,158, forward strandCHST14CCDC32: 40,519,519–40,565,054, reverse strandCCDC32RPUSD2: 40,569,289–40,575,171, forward strandRPUSD2KNL1: 40,594,002–40,664,342, forward strandKNL1Diagram of BUB1B: 23 exons on the forward strand of chromosome 15Exon 2: 2 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 18: 7 known disease-causing sitesExon 19: 3 known disease-causing sitesExon 20: 1 known disease-causing siteExon 21: 2 known disease-causing sitesExon 22: 3 known disease-causing sitesExon 1: 40,161,069–40,161,255, 187 basesExon 2: 40,165,053–40,165,196, 144 basesExon 3: 40,170,062–40,170,121, 60 basesExon 4: 40,170,537–40,170,681, 145 basesExon 5: 40,176,477–40,176,673, 197 basesExon 6: 40,183,714–40,183,883, 170 basesExon 7: 40,185,165–40,185,379, 215 basesExon 8: 40,185,551–40,185,642, 92 basesExon 9: 40,196,545–40,196,774, 230 basesExon 10: 40,199,615–40,199,727, 113 basesExon 11: 40,200,244–40,200,359, 116 basesExon 12: 40,200,931–40,200,980, 50 basesExon 13: 40,202,405–40,202,465, 61 basesExon 14: 40,202,589–40,202,694, 106 basesExon 15: 40,206,184–40,206,458, 275 basesExon 16: 40,208,637–40,208,770, 134 basesExon 17: 40,209,635–40,209,775, 141 basesExon 18: 40,210,110–40,210,210, 101 basesExon 19: 40,212,499–40,212,648, 150 basesExon 20: 40,213,332–40,213,474, 143 basesExon 21: 40,217,496–40,217,667, 172 basesExon 22: 40,218,456–40,218,562, 107 basesExon 23: 40,220,564–40,221,123, 560 bases15101520235′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 3.7 kb of the gene's 60.1 kb; 3,153 of those bases code for the protein.

Sequencing BUB1B

75

positions in BUB1B 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 60.1 kb of BUB1B, introns included, not only the 3.7 kb of exons.

Genes linked to the same conditions

Traits linked to BUB1B

The Human Phenotype Ontology lists these as features of the rare conditions BUB1B can cause. Each trait's page lists the other genes linked to it.

External links

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 2026-10-17: 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 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). BUB1B gene: BUB1 mitotic checkpoint serine/threonine kinase B. Retrieved 17 October 2026, from https://dantelabs.com/genes/bub1b

Vancouver

Dante Labs. BUB1B gene: BUB1 mitotic checkpoint serine/threonine kinase B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/bub1b

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