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Gene

BBS9

Bardet-Biedl syndrome 9

Summary

Cytogenetic location
7p14.3
Coordinates
Chromosome 7: 33,129,564–33,606,069 (GRCh38)
Exons
23 exons across 476.5 kb
Protein
887 amino acids
Inheritance
Autosomal recessive
Also known as
B1, PTHB1
MANE Select transcript
ENST00000242067.11NM_198428.3
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

  • Bardet-Biedl and Alström Syndromes

    • Bardet-Biedl syndromeAutosomal recessive

      A recessive ciliopathy caused by variants in more than 20 genes (most often BBS1 and BBS10) that causes retinal dystrophy, obesity, extra fingers or toes, kidney anomalies and learning difficulties.

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

      Diagnosis allows eye, kidney and diabetes surveillance, and setmelanotide is an approved treatment for obesity in Bardet-Biedl syndrome.

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 BBS9 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where BBS9 sits. BBS9 and 5 genes near it on chromosome 7, from 32,653,058 to 34,082,575.Chromosome 77p14.3p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.332.8 Mb33 Mb33.2 Mb33.4 Mb33.6 Mb33.8 Mb34 MbKBTBD2: 32,861,369–32,894,131, reverse strandKBTBD2FKBP9: 32,957,404–33,006,931, forward strandFKBP9NT5C3A: 33,014,078–33,062,837, reverse strandNT5C3ARP9: 33,094,797–33,109,601, reverse strandRP9BBS9: 33,129,564–33,606,069, forward strandBBS9BMPER: 33,904,308–34,156,427, forward strandBMPERDiagram of BBS9: 23 exons on the forward strand of chromosome 7Exon 2: 2 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 7: 1 known disease-causing siteExon 8: 10 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 10: 11 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 13: 4 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 15: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 18: 7 known disease-causing sitesExon 19: 10 known disease-causing sitesExon 20: 4 known disease-causing sitesExon 21: 7 known disease-causing sitesExon 22: 3 known disease-causing sitesExon 1: 33,129,564–33,130,041, 478 basesExon 2: 33,146,242–33,146,364, 123 basesExon 3: 33,152,701–33,152,851, 151 basesExon 4: 33,155,638–33,155,702, 65 basesExon 5: 33,177,478–33,177,591, 114 basesExon 6: 33,257,236–33,257,410, 175 basesExon 7: 33,264,290–33,264,374, 85 basesExon 8: 33,273,012–33,273,195, 184 basesExon 9: 33,273,827–33,273,956, 130 basesExon 10: 33,336,441–33,336,622, 182 basesExon 11: 33,340,897–33,340,973, 77 basesExon 12: 33,344,581–33,344,634, 54 basesExon 13: 33,349,068–33,349,170, 103 basesExon 14: 33,351,219–33,351,323, 105 basesExon 15: 33,352,859–33,352,873, 15 basesExon 16: 33,357,855–33,357,995, 141 basesExon 17: 33,367,767–33,367,862, 96 basesExon 18: 33,383,666–33,383,838, 173 basesExon 19: 33,387,992–33,388,144, 153 basesExon 20: 33,505,463–33,505,645, 183 basesExon 21: 33,533,954–33,534,176, 223 basesExon 22: 33,604,865–33,604,975, 111 basesExon 23: 33,605,195–33,606,069, 875 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 4 kb of the gene's 476.5 kb; 2,664 of those bases code for the protein.

How a genome test reads BBS9

124

positions in BBS9 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 476.5 kb of BBS9, introns included, not only the 4 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.). BBS9 gene: Bardet-Biedl syndrome 9. Retrieved 16 October 2026, from https://dantelabs.com/genes/bbs9

Vancouver

Dante Labs. BBS9 gene: Bardet-Biedl syndrome 9 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/bbs9

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