Skip to content
Use your HSA or FSA funds

Gene

BBS7

Bardet-Biedl syndrome 7

Summary

Cytogenetic location
4q27
Coordinates
Chromosome 4: 121,824,329–121,870,474 (GRCh38)
Exons
19 exons across 46.1 kb
Protein
715 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ10715, BBS2L1
MANE Select transcript
ENST00000264499.9NM_176824.3
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 BBS7 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 4, with a bracket where BBS7 sits. BBS7 and 7 genes near it on chromosome 4, from 121,347,402 to 122,347,401.Chromosome 44q27p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2121.4 Mb121.6 Mb121.8 Mb122 Mb122.2 MbQRFPR: 121,327,318–121,381,065, reverse strandQRFPRANXA5: 121,644,102–121,697,330, reverse strandANXA5SMIM43: 121,758,533–121,766,260, reverse strandSMIM43EXOSC9: 121,801,318–121,817,023, forward strandEXOSC9CCNA2: 121,815,710–121,823,936, reverse strandCCNA2BBS7: 121,824,329–121,870,474, reverse strandBBS7TRPC3: 121,874,481–121,952,082, reverse strandTRPC3BLTP1: 122,152,327–122,364,167, forward strandBLTP1Diagram of BBS7: 19 exons on the reverse strand of chromosome 4Exon 18: 6 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 15: 9 known disease-causing sitesExon 14: 10 known disease-causing sitesExon 13: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 11: 8 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 8: 8 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 5: 11 known disease-causing sitesExon 4: 7 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 19: 121,824,329–121,825,993, 1,665 basesExon 18: 121,828,146–121,828,269, 124 basesExon 17: 121,828,402–121,828,505, 104 basesExon 16: 121,828,619–121,828,728, 110 basesExon 15: 121,833,231–121,833,395, 165 basesExon 14: 121,835,144–121,835,283, 140 basesExon 13: 121,839,631–121,839,696, 66 basesExon 12: 121,843,927–121,844,001, 75 basesExon 11: 121,845,504–121,845,696, 193 basesExon 10: 121,847,404–121,847,506, 103 basesExon 9: 121,848,844–121,848,928, 85 basesExon 8: 121,852,956–121,853,086, 131 basesExon 7: 121,854,704–121,854,820, 117 basesExon 6: 121,855,489–121,855,561, 73 basesExon 5: 121,858,992–121,859,178, 187 basesExon 4: 121,861,504–121,861,679, 176 basesExon 3: 121,863,217–121,863,279, 63 basesExon 2: 121,867,981–121,868,046, 66 basesExon 1: 121,870,278–121,870,474, 197 bases191510515′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 3.8 kb of the gene's 46.1 kb; 2,148 of those bases code for the protein.

How a genome test reads BBS7

127

positions in BBS7 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 46.1 kb of BBS7, introns included, not only the 3.8 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.). BBS7 gene: Bardet-Biedl syndrome 7. Retrieved 17 October 2026, from https://dantelabs.com/genes/bbs7

Vancouver

Dante Labs. BBS7 gene: Bardet-Biedl syndrome 7 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/bbs7

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test