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Gene

BBS5

Bardet-Biedl syndrome 5

Summary

Cytogenetic location
2q31.1
Coordinates
Chromosome 2: 169,479,494–169,506,655 (GRCh38)
Exons
12 exons across 27.2 kb
Protein
341 amino acids
Inheritance
Autosomal recessive
Also known as
DKFZp762I194
MANE Select transcript
ENST00000295240.8NM_152384.3
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.

      • 7 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 BBS5 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 BBS5 sits. BBS5 and 13 genes near it on chromosome 2, from 168,993,075 to 169,993,074.Chromosome 22q31.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3169 Mb169.2 Mb169.4 Mb169.6 Mb169.8 MbABCB11: 168,915,498–169,031,332, reverse strandABCB11DHRS9: 169,064,789–169,096,168, forward strandDHRS9LRP2: 169,127,109–169,362,780, reverse strandLRP2: 169,479,480–169,525,922, forward strandBBS5: 169,479,494–169,506,655, forward strandBBS5KLHL41: 169,509,684–169,526,262, forward strandKLHL41FASTKD1: 169,527,878–169,573,919, reverse strandFASTKD1PPIG: 169,584,337–169,642,124, forward strandPPIGCFAP210: 169,645,425–169,694,426, reverse strandCFAP210PHOSPHO2: 169,694,435–169,704,808, forward strandPHOSPHO2KLHL23: 169,694,435–169,792,697, forward strandKLHL23SSB: 169,791,933–169,812,091, forward strandSSBMETTL5: 169,810,081–169,824,931, reverse strandMETTL5UBR3: 169,827,396–170,084,461, forward strandUBR3Diagram of BBS5: 12 exons on the forward strand of chromosome 2Exon 1: 5 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 6: 8 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 1: 169,479,494–169,479,612, 119 basesExon 2: 169,482,251–169,482,333, 83 basesExon 3: 169,487,069–169,487,134, 66 basesExon 4: 169,487,806–169,487,855, 50 basesExon 5: 169,487,987–169,488,114, 128 basesExon 6: 169,492,874–169,493,009, 136 basesExon 7: 169,493,741–169,493,836, 96 basesExon 8: 169,497,627–169,497,689, 63 basesExon 9: 169,499,486–169,499,620, 135 basesExon 10: 169,503,095–169,503,178, 84 basesExon 11: 169,504,303–169,504,326, 24 basesExon 12: 169,504,481–169,506,655, 2,175 bases1246810125′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 3.2 kb of the gene's 27.2 kb; 1,026 of those bases code for the protein.

How a genome test reads BBS5

62

positions in BBS5 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 27.2 kb of BBS5, introns included, not only the 3.2 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.). BBS5 gene: Bardet-Biedl syndrome 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/bbs5

Vancouver

Dante Labs. BBS5 gene: Bardet-Biedl syndrome 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/bbs5

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