ABCB4

Gene

ATP binding cassette subfamily B member 4

HGNCHGNC:45 EnsemblENSG00000005471 NCBI Gene5244

Locus: gene with protein productLocation: 7q21.12

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asPGY3 · MDR3 · MDR2 · PFIC-3 · GBD1

View full nomenclature history (6)

Previous symbolsPGY3, MDR3

Alias symbolsMDR2, PFIC-3, GBD1

Previous namesATP-binding cassette, sub-family B (MDR/TAP), member 4

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Cholelithiasis

Cholestasis, Intrahepatic

Progressive familial intrahepatic cholestasis

Gallstones

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

ATP binding cassette subfamily BATPase phospholipid transporting

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2024-09-16.

Open TargetsGene–disease associations from the Open Targets Platform.