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Gene

ABCG5

ATP binding cassette subfamily G member 5

Summary

Cytogenetic location
2p21
Coordinates
Chromosome 2: 43,812,472–43,838,839 (GRCh38)
Exons
13 exons across 26.4 kb
Protein
651 amino acids
Inheritance
Autosomal recessive
Also known as
STSL
MANE Select transcript
ENST00000405322.8NM_022436.3
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

  • Hyperlipidemia

    • SitosterolemiaAutosomal recessive

      Caused by variants in ABCG5 or ABCG8, which lead to build-up of plant sterols and can cause very high cholesterol in children, fatty skin deposits (xanthomas) and early heart disease, mimicking familial hypercholesterolemia.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows a diet low in plant sterols and treatment with ezetimibe, which is specifically effective; statins work less well.

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 ABCG5 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 ABCG5 sits. ABCG5 and 10 genes near it on chromosome 2, from 43,325,656 to 44,325,655.Chromosome 22p21p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.343.4 Mb43.6 Mb43.8 Mb44 Mb44.2 MbTHADA: 43,230,126–43,596,070, reverse strandTHADAPLEKHH2: 43,637,249–43,767,987, forward strandPLEKHH2C1GALT1C1L: 43,675,151–43,676,429, reverse strandC1GALT1C1LDYNC2LI1: 43,774,011–43,828,352, forward strandDYNC2LI1ABCG5: 43,812,472–43,838,839, reverse strandABCG5ABCG8: 43,831,942–43,882,988, forward strandABCG8LRPPRC: 43,886,224–43,996,226, reverse strandLRPPRCPPM1B: 44,167,969–44,244,384, forward strandPPM1B: 44,168,851–44,320,310, forward strandSLC3A1: 44,275,458–44,322,674, forward strandSLC3A1PREPL: 44,316,185–44,361,862, reverse strandPREPLDiagram of ABCG5: 13 exons on the reverse strand of chromosome 2Exon 13: 2 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 10: 6 known disease-causing sitesExon 9: 7 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 4 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 4 known disease-causing sitesExon 13: 43,812,472–43,813,309, 838 basesExon 12: 43,814,477–43,814,589, 113 basesExon 11: 43,819,915–43,820,100, 186 basesExon 10: 43,822,797–43,822,935, 139 basesExon 9: 43,823,913–43,824,118, 206 basesExon 8: 43,824,219–43,824,432, 214 basesExon 7: 43,824,889–43,825,018, 130 basesExon 6: 43,826,382–43,826,521, 140 basesExon 5: 43,827,983–43,828,115, 133 basesExon 4: 43,831,769–43,831,867, 99 basesExon 3: 43,831,947–43,832,083, 137 basesExon 2: 43,837,834–43,837,955, 122 basesExon 1: 43,838,537–43,838,839, 303 bases131210864215′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 2.8 kb of the gene's 26.4 kb; 1,956 of those bases code for the protein.

How a genome test reads ABCG5

59

positions in ABCG5 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 26.4 kb of ABCG5, introns included, not only the 2.8 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.). ABCG5 gene: ATP binding cassette subfamily G member 5. Retrieved 16 October 2026, from https://dantelabs.com/genes/abcg5

Vancouver

Dante Labs. ABCG5 gene: ATP binding cassette subfamily G member 5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/abcg5

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