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Gene

BBS2

Bardet-Biedl syndrome 2

Summary

Cytogenetic location
16q13
Coordinates
Chromosome 16: 56,484,385–56,520,024 (GRCh38)
Exons
17 exons across 35.6 kb
Protein
721 amino acids
Inheritance
Autosomal recessive
Previous symbols
BBS
MANE Select transcript
ENST00000245157.11NM_031885.5
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 reports 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.

      • 6 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.

Broader groupings

  • Retinitis Pigmentosa

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 2 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 BBS2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where BBS2 sits. BBS2 and 21 genes near it on chromosome 16, from 56,002,205 to 57,002,204.Chromosome 1616q13p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.356.2 Mb56.4 Mb56.6 Mb56.8 Mb57 MbGNAO1: 56,189,660–56,357,444, forward strandGNAO1AMFR: 56,361,449–56,425,598, reverse strandAMFRNUDT21: 56,428,473–56,452,199, reverse strandNUDT21: 56,430,556–56,501,497, reverse strandOGFOD1: 56,451,508–56,479,122, forward strandOGFOD1BBS2: 56,484,385–56,520,024, reverse strandBBS2MT4: 56,565,073–56,569,108, forward strandMT4MT3: 56,589,074–56,591,093, forward strandMT3MT2A: 56,608,130–56,609,503, forward strandMT2AMT1E: 56,625,475–56,627,112, forward strandMT1EMT1M: 56,632,485–56,633,986, forward strandMT1MMT1A: 56,638,202–56,640,087, forward strandMT1AMT1B: 56,651,885–56,653,204, forward strandMT1F: 56,657,640–56,660,698, forward strandMT1G: 56,666,730–56,668,072, reverse strandMT1H: 56,669,660–56,671,135, forward strandMT1HMT1X: 56,682,058–56,686,110, forward strandMT1XNUP93: 56,730,095–56,850,286, forward strandNUP93SLC12A3: 56,865,203–56,915,850, forward strandSLC12A3HERPUD1: 56,930,815–56,946,491, forward strandHERPUD1CETP: 56,961,922–56,983,845, forward strandCETPNLRC5: 56,989,485–57,084,238, forward strandNLRC5Diagram of BBS2: 17 exons on the reverse strand of chromosome 16Exon 17: 3 known disease-causing sitesExon 16: 11 known disease-causing sitesExon 15: 12 known disease-causing sitesExon 14: 18 known disease-causing sitesExon 13: 9 known disease-causing sitesExon 12: 13 known disease-causing sitesExon 11: 16 known disease-causing sitesExon 10: 15 known disease-causing sitesExon 9: 13 known disease-causing sitesExon 8: 10 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 6: 12 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 3: 15 known disease-causing sitesExon 2: 29 known disease-causing sitesExon 1: 11 known disease-causing sitesExon 17: 56,484,385–56,484,867, 483 basesExon 16: 56,485,590–56,485,738, 149 basesExon 15: 56,496,967–56,497,079, 113 basesExon 14: 56,497,743–56,497,880, 138 basesExon 13: 56,498,437–56,498,568, 132 basesExon 12: 56,499,778–56,499,907, 130 basesExon 11: 56,500,854–56,501,025, 172 basesExon 10: 56,501,353–56,501,497, 145 basesExon 9: 56,502,317–56,502,456, 140 basesExon 8: 56,502,673–56,502,808, 136 basesExon 7: 56,505,950–56,506,036, 87 basesExon 6: 56,506,120–56,506,224, 105 basesExon 5: 56,509,957–56,510,034, 78 basesExon 4: 56,510,859–56,510,921, 63 basesExon 3: 56,511,159–56,511,284, 126 basesExon 2: 56,514,453–56,514,680, 228 basesExon 1: 56,519,746–56,520,024, 279 bases1716141210864215′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 2.7 kb of the gene's 35.6 kb; 2,166 of those bases code for the protein.

How a genome test reads BBS2

250

positions in BBS2 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 35.6 kb of BBS2, introns included, not only the 2.7 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.). BBS2 gene: Bardet-Biedl syndrome 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/bbs2

Vancouver

Dante Labs. BBS2 gene: Bardet-Biedl syndrome 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/bbs2

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