ABCB4 Gene

HGNC Family	ATP binding cassette transporters (ABC)
Name	ATP-binding cassette, sub-family B (MDR/TAP), member 4
Description	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ABCB4, which encodes the canalicular phospholipid translocator MDR3 in humans (the murine ortholog being Mdr2), is essential for the secretion of phosphatidylcholine into bile. This excreted phospholipid is critical for the formation of mixed micelles that solubilize cholesterol and protect the biliary epithelium from the detergent effects of bile acids."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Genetic alterations in ABCB4 have been linked to a wide spectrum of cholestatic liver disorders. Mutations and polymorphisms in this gene predispose to drug-induced cholestasis"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", symptomatic cholelithiasis in young adults"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ", and progressive familial intrahepatic cholestasis type III (PFIC3)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}, {"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Moreover, ABCB4 gene defects have been associated with intrahepatic cholestasis of pregnancy (ICP)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "and with adult cholestasis presenting with portal fibrosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In animal models, loss of Mdr2/ABCB4 leads to the production of bile with markedly reduced phospholipid content. This phospholipid deficiency contributes to bile that is supersaturated with cholesterol, promoting cholesterol crystallization and gallstone formation, as well as injuring the bile ducts and predisposing to fibrosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}, {"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, studies have shown that ABCB4 expression is tightly regulated by nuclear receptors such as the farnesoid X receptor (FXR), which coordinates bile acid and phospholipid homeostasis. This regulation underscores the pivotal role of ABCB4 in maintaining hepatobiliary integrity and its significance as a genetic risk factor that spans a continuum of liver diseases—from PFIC3, ICP, and drug-induced cholestasis to low phospholipid-associated cholelithiasis and adult biliary fibrosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}, {"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these insights highlight ABCB4’s critical function in biliary phospholipid transport and its central role in preventing bile acid–mediated injury. Defects in ABCB4 compromise bile composition and trigger a cascade of hepatobiliary disorders, offering potential targets for novel therapeutic interventions in cholestatic liver diseases."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "5"}, {"type": "fg_f", "ref": "9"}, {"type": "fg_f", "ref": "6"}, {"type": "fg_f", "ref": "13"}, {"type": "fg_f", "ref": "3"}, {"type": "fg_f", "ref": "11"}, {"type": "fg_f", "ref": "4"}, {"type": "fg_f", "ref": "14"}, {"type": "fg_f", "ref": "7"}, {"type": "fg_f", "ref": "12"}, {"type": "fg_f", "ref": "10"}, {"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Daniel F Gudbjartsson, Hannes Helgason, Sigurjon A Gudjonsson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Large-scale whole-genome sequencing of the Icelandic population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.3247"}], "href": "https://doi.org/10.1038/ng.3247"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25807286"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25807286"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Peter Fickert, Martin Wagner, Hanns-Ulrich Marschall, et al. "}, {"type": "b", "children": [{"type": "t", "text": "24-norUrsodeoxycholic acid is superior to ursodeoxycholic acid in the treatment of sclerosing cholangitis in Mdr2 (Abcb4) knockout mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gastroenterology (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1053/j.gastro.2005.10.018"}], "href": "https://doi.org/10.1053/j.gastro.2005.10.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16472600"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16472600"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Li Huang, Annie Zhao, Jane-L Lew, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Farnesoid X receptor activates transcription of the phospholipid pump MDR3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M308321200"}], "href": "https://doi.org/10.1074/jbc.M308321200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14527955"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14527955"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Tineke Kok, Vincent W Bloks, Henk Wolters, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Peroxisome proliferator-activated receptor alpha (PPARalpha)-mediated regulation of multidrug resistance 2 (Mdr2) expression and function in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20020981"}], "href": "https://doi.org/10.1042/BJ20020981"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12381268"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12381268"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Carmen Lang, Yvonne Meier, Bruno Stieger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pharmacogenet Genomics (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/01.fpc.0000230418.28091.76"}], "href": "https://doi.org/10.1097/01.fpc.0000230418.28091.76"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17264802"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17264802"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Olivier Rosmorduc, Brigitte Hermelin, Pierre-Yves Boelle, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ABCB4 gene mutation-associated cholelithiasis in adults."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gastroenterology (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0016-5085(03)00898-9"}], "href": "https://doi.org/10.1016/s0016-5085(03"}, {"type": "t", "text": "00898-9) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12891548"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12891548"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Frank Lammert, David Q-H Wang, Sonja Hillebrandt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Spontaneous cholecysto- and hepatolithiasis in Mdr2-/- mice: a model for low phospholipid-associated cholelithiasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hepatology (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/hep.20022"}], "href": "https://doi.org/10.1002/hep.20022"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14752830"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14752830"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "E Jacquemin "}, {"type": "b", "children": [{"type": "t", "text": "Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Semin Liver Dis (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1055/s-2001-19033"}], "href": "https://doi.org/10.1055/s-2001-19033"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11745043"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11745043"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Christiane Pauli-Magnus, Thomas Lang, Yvonne Meier, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pharmacogenetics (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/00008571-200402000-00003"}], "href": "https://doi.org/10.1097/00008571-200402000-00003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15077010"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15077010"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Verena Keitel, Christoph Vogt, Dieter Häussinger, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms10713"}], "href": "https://doi.org/10.1038/ncomms10713"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26888176"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26888176"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Hideyuki Kojima, Anne T Nies, Jörg König, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Changes in the expression and localization of hepatocellular transporters and radixin in primary biliary cirrhosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hepatol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0168-8278(03)00410-0"}], "href": "https://doi.org/10.1016/s0168-8278(03"}, {"type": "t", "text": "00410-0) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14568249"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14568249"}]}]}]}
Synonyms	GBD1, MDR2, PFIC-3, ICP3, PGY3, MDR2/3, ABC21, MDR3
Proteins	MDR3_HUMAN
NCBI Gene ID	5244
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ABCB4 has 7,463 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 122 datasets.

Click the + buttons to view associations for ABCB4 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ABCB4 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ABCB4 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ABCB4 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ABCB4 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ABCB4 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ABCB4 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving ABCB4 protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ABCB4 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ABCB4 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ABCB4 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ABCB4 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ABCB4 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ABCB4 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ABCB4 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ABCB4 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ABCB4 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ABCB4 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ABCB4 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with ABCB4 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ABCB4 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing ABCB4 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ABCB4 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ABCB4 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ABCB4 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing ABCB4 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ABCB4 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ABCB4 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ABCB4 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ABCB4 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ABCB4 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ABCB4 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ABCB4 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ABCB4 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ABCB4 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ABCB4 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ABCB4 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ABCB4 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ABCB4 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ABCB4 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ABCB4 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for ABCB4 protein from the curated DrugBank Drug Targets dataset.