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Gene

BBS12

Bardet-Biedl syndrome 12

Summary

Cytogenetic location
4q27
Coordinates
Chromosome 4: 122,732,704–122,744,939 (GRCh38)
Exons
2 exons across 12.2 kb
Protein
710 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ35630, FLJ41559
Previous symbols
C4orf24
MANE Select transcript
ENST00000314218.8NM_152618.3
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 BBS12 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where BBS12 sits. BBS12 and 7 genes near it on chromosome 4, from 122,238,822 to 123,238,821.Chromosome 44q27p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2122.4 Mb122.6 Mb122.8 Mb123 Mb123.2 MbBLTP1: 122,152,327–122,364,167, forward strandBLTP1ADAD1: 122,378,966–122,429,814, forward strandADAD1IL2: 122,451,470–122,456,725, reverse strandIL2IL21: 122,610,108–122,621,066, reverse strandIL21BBS12: 122,732,704–122,744,939, forward strandBBS12FGF2: 122,826,680–122,898,236, forward strandFGF2NUDT6: 122,886,565–122,922,968, reverse strandNUDT6AFG2A: 122,923,070–123,319,433, forward strandAFG2ADiagram of BBS12: 2 exons on the forward strand of chromosome 4Exon 1: 1 known disease-causing siteExon 2: 180 known disease-causing sitesExon 1: 122,732,704–122,732,884, 181 basesExon 2: 122,741,883–122,744,939, 3,057 bases125′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 12.2 kb; 2,133 of those bases code for the protein.

How a genome test reads BBS12

181

positions in BBS12 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 12.2 kb of BBS12, 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.). BBS12 gene: Bardet-Biedl syndrome 12. Retrieved 17 October 2026, from https://dantelabs.com/genes/bbs12

Vancouver

Dante Labs. BBS12 gene: Bardet-Biedl syndrome 12 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/bbs12

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