Skip to content
Use your HSA or FSA funds

Gene

ABCG8

ATP binding cassette subfamily G member 8

Summary

Cytogenetic location
2p21
Coordinates
Chromosome 2: 43,838,971–43,882,988 (GRCh38)
Exons
13 exons across 44 kb
Protein
673 amino acids
Inheritance
Autosomal recessive
Also known as
GBD4
MANE Select transcript
ENST00000272286.4NM_022437.3
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 ABCG8 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 ABCG8 sits. ABCG8 and 10 genes near it on chromosome 2, from 43,360,980 to 44,360,979.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: 43,806,213–43,838,865, reverse strandABCG5ABCG8: 43,838,971–43,882,988, 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 ABCG8: 13 exons on the forward strand of chromosome 2Exon 2: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 4: 4 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 12: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 1: 43,838,971–43,839,116, 146 basesExon 2: 43,844,507–43,844,608, 102 basesExon 3: 43,846,155–43,846,311, 157 basesExon 4: 43,851,584–43,851,822, 239 basesExon 5: 43,852,354–43,852,486, 133 basesExon 6: 43,852,599–43,852,868, 270 basesExon 7: 43,871,976–43,872,138, 163 basesExon 8: 43,872,223–43,872,306, 84 basesExon 9: 43,873,787–43,873,986, 200 basesExon 10: 43,874,407–43,874,483, 77 basesExon 11: 43,875,146–43,875,413, 268 basesExon 12: 43,877,561–43,877,688, 128 basesExon 13: 43,877,776–43,882,988, 5,213 bases124681012135′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 7.2 kb of the gene's 44 kb; 2,022 of those bases code for the protein.

How a genome test reads ABCG8

26

positions in ABCG8 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 44 kb of ABCG8, introns included, not only the 7.2 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.). ABCG8 gene: ATP binding cassette subfamily G member 8. Retrieved 16 October 2026, from https://dantelabs.com/genes/abcg8

Vancouver

Dante Labs. ABCG8 gene: ATP binding cassette subfamily G member 8 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/abcg8

One test. A lifetime of answers.

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

Get my Genome Test