Skip to content
Use your HSA or FSA funds

Gene

ABCB4

ATP binding cassette subfamily B member 4

Summary

Cytogenetic location
7q21.12
Coordinates
Chromosome 7: 87,401,696–87,475,680 (GRCh38)
Exons
28 exons across 74 kb
Protein
1,279 amino acids
Inheritance
Autosomal recessive
Also known as
MDR2, PFIC-3, GBD1
Previous symbols
PGY3, MDR3
MANE Select transcript
ENST00000649586.2NM_000443.4
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 reports relevant to this gene

  • Familial Intrahepatic Cholestasis

    • Autosomal recessive

      An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

  • Low phospholipid-associated cholelithiasis

    • Gallbladder Disease 1

      A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.

      • 3 GenCC submitters rate it definitive or strong
    • Cholelithiasis

      The presence of crystallized deposits forming in the gallbladder or biliary tree, primarily composed of cholesterol, bilirubin, and bile.

      • 3 GenCC submitters rate it definitive or strong

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 ABCB4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where ABCB4 sits. ABCB4 and 9 genes near it on chromosome 7, from 86,938,688 to 87,938,687.Chromosome 77q21.12p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.387 Mb87.2 Mb87.4 Mb87.6 Mb87.8 MbELAPOR2: 86,874,916–87,059,710, reverse strandELAPOR2DMTF1: 87,152,340–87,202,747, forward strandDMTF1TMEM243: 87,191,688–87,220,597, reverse strandTMEM243CROT: 87,317,127–87,399,800, forward strandCROTABCB4: 87,401,696–87,475,680, reverse strandABCB4ABCB1: 87,501,989–87,713,379, reverse strandABCB1RUNDC3B: 87,627,548–87,832,298, forward strandRUNDC3BSLC25A40: 87,833,561–87,876,404, reverse strandSLC25A40DBF4: 87,876,216–87,909,553, forward strandDBF4ADAM22: 87,934,136–88,202,889, forward strandADAM22Diagram of ABCB4: 28 exons on the reverse strand of chromosome 7Exon 28: 5 known disease-causing sitesExon 27: 7 known disease-causing sitesExon 26: 6 known disease-causing sitesExon 25: 11 known disease-causing sitesExon 24: 6 known disease-causing sitesExon 23: 10 known disease-causing sitesExon 22: 1 known disease-causing siteExon 21: 8 known disease-causing sitesExon 20: 1 known disease-causing siteExon 19: 3 known disease-causing sitesExon 18: 6 known disease-causing sitesExon 17: 8 known disease-causing sitesExon 16: 8 known disease-causing sitesExon 15: 7 known disease-causing sitesExon 14: 14 known disease-causing sitesExon 13: 12 known disease-causing sitesExon 12: 5 known disease-causing sitesExon 11: 8 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 9: 10 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 6: 10 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 4 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 28: 87,401,696–87,402,302, 607 basesExon 27: 87,403,135–87,403,281, 147 basesExon 26: 87,406,288–87,406,494, 207 basesExon 25: 87,408,037–87,408,234, 198 basesExon 24: 87,409,236–87,409,392, 157 basesExon 23: 87,411,893–87,412,033, 141 basesExon 22: 87,413,617–87,413,717, 101 basesExon 21: 87,417,312–87,417,515, 204 basesExon 20: 87,418,537–87,418,620, 84 basesExon 19: 87,419,998–87,420,075, 78 basesExon 18: 87,422,121–87,422,225, 105 basesExon 17: 87,423,906–87,424,052, 147 basesExon 16: 87,426,750–87,426,920, 171 basesExon 15: 87,431,404–87,431,565, 162 basesExon 14: 87,439,667–87,439,837, 171 basesExon 13: 87,440,199–87,440,402, 204 basesExon 12: 87,443,319–87,443,444, 126 basesExon 11: 87,443,663–87,443,773, 111 basesExon 10: 87,444,862–87,444,975, 114 basesExon 9: 87,447,034–87,447,205, 172 basesExon 8: 87,449,968–87,450,092, 125 basesExon 7: 87,451,623–87,451,794, 172 basesExon 6: 87,452,944–87,453,135, 192 basesExon 5: 87,454,535–87,454,592, 58 basesExon 4: 87,462,758–87,462,908, 151 basesExon 3: 87,472,621–87,472,675, 55 basesExon 2: 87,475,386–87,475,471, 86 basesExon 1: 87,475,634–87,475,680, 47 bases2825201510515′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 4.3 kb of the gene's 74 kb; 3,840 of those bases code for the protein.

How a genome test reads ABCB4

215

positions in ABCB4 where ClinVar classes a change as pathogenic or likely pathogenic

6 of them (2.8%) fall in regions short reads find hard.

  • Low mappability (6 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 74 kb of ABCB4, introns included, not only the 4.3 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.). ABCB4 gene: ATP binding cassette subfamily B member 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/abcb4

Vancouver

Dante Labs. ABCB4 gene: ATP binding cassette subfamily B member 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/abcb4

One test. A lifetime of answers.

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

Get my Genome Test