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 ... See more...

Aliases for ABCB4 Gene

Aliases for ABCB4 Gene

  • ATP Binding Cassette Subfamily B Member 4 2 3 5
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 4 2 3
  • ATP-Binding Cassette Sub-Family B Member 4 3 4
  • Phosphatidylcholine Translocator ABCB4 3 4
  • Multidrug Resistance Protein 3 3 4
  • P-Glycoprotein 3 3 4
  • PFIC-3 2 3
  • GBD1 2 3
  • MDR2 2 3
  • MDR3 3 4
  • PGY3 3 4
  • P-Glycoprotein-3/Multiple Drug Resistance-3 3
  • Multiple Drug Resistance 3 3
  • EC 3.6.3.44 50
  • EC 7.6.2.1 4
  • EC 3.6.3 50
  • MDR2/3 3
  • ABC21 3
  • ABCB4 5
  • ICP3 3

External Ids for ABCB4 Gene

Previous HGNC Symbols for ABCB4 Gene

  • PGY3
  • MDR3

Previous GeneCards Identifiers for ABCB4 Gene

  • GC07M085566
  • GC07M086629
  • GC07M086643
  • GC07M086676
  • GC07M086869
  • GC07M087031
  • GC07M081642

Summaries for ABCB4 Gene

Entrez Gene Summary for ABCB4 Gene

  • 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]

GeneCards Summary for ABCB4 Gene

ABCB4 (ATP Binding Cassette Subfamily B Member 4) is a Protein Coding gene. Diseases associated with ABCB4 include Cholestasis, Progressive Familial Intrahepatic, 3 and Gallbladder Disease 1. Among its related pathways are Farnesoid X Receptor Pathway and Metabolism. Gene Ontology (GO) annotations related to this gene include ATPase activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCB1.

UniProtKB/Swiss-Prot Summary for ABCB4 Gene

  • Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts (PubMed:7957936, PubMed:8898203, PubMed:9366571, PubMed:17523162, PubMed:23468132, PubMed:24806754, PubMed:24723470, PubMed:24594635, PubMed:21820390). Plays a role in the recruitment of phosphatidylcholine (PC), phosphatidylethanolamine (PE) and sphingomyelin (SM) molecules to nonraft membranes and to further enrichment of SM and cholesterol in raft membranes in hepatocytes (PubMed:23468132). Required for proper phospholipid bile formation (By similarity). Indirectly involved in cholesterol efflux activity from hepatocytes into the canalicular lumen in the presence of bile salts in an ATP-dependent manner (PubMed:24045840). Promotes biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed:9366571, PubMed:28012258). In cooperation with ATP8B1, functions to protect hepatocytes from the deleterious detergent activity of bile salts (PubMed:21820390). Does not confer multidrug resistance (By similarity).

Gene Wiki entry for ABCB4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCB4 Gene

Genomics for ABCB4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABCB4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J087473 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 268.9 +5.3 5264 2.5 SP1 ZNF207 BCL11A TARDBP TRIM22 FEZF1 ZNF341 KLF9 RXRA SMAD4 ABCB4 lnc-CROT-1 lnc-RUNDC3B-1 CROT
GH07J087480 Enhancer 0.2 Ensembl 261.6 +0.2 234 0.8 ABCB4 lnc-CROT-1 lnc-RUNDC3B-1 CROT
GH07J087479 Enhancer 0.2 Ensembl 250.7 +0.9 934 0.2 ABCB4 lnc-CROT-1 lnc-RUNDC3B-1 CROT
GH07J087464 Enhancer 0.9 ENCODE 18 +15.1 15104 0.8 ZNF600 FOXA1 HOMEZ ZBTB7B ZNF217 KMT2B THAP11 ELF1 FOXA2 KDM6A ABCB4 lnc-CROT-1 lnc-RUNDC3B-1 CROT
GH07J087446 Enhancer 0.7 Ensembl 19 +34.3 34337 0.2 BCL11A TRIM22 IRF4 EBF1 SMARCA5 BHLHE40 SPI1 BATF ELF1 ZNF24 lnc-RUNDC3B-1 ABCB4 TP53TG1 lnc-CROT-1 CROT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCB4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCB4

Top Transcription factor binding sites by QIAGEN in the ABCB4 gene promoter:
  • AML1a
  • E47
  • MEF-2A
  • POU2F1
  • POU2F1a
  • RSRFC4
  • STAT3
  • Tal-1beta

Genomic Locations for ABCB4 Gene

Latest Assembly
chr7:87,398,988-87,480,435
(GRCh38/hg38)
Size:
81,448 bases
Orientation:
Minus strand

Previous Assembly
chr7:87,031,012-87,104,996
(GRCh37/hg19 by Entrez Gene)
Size:
73,985 bases
Orientation:
Minus strand

chr7:87,031,013-87,109,751
(GRCh37/hg19 by Ensembl)
Size:
78,739 bases
Orientation:
Minus strand

Genomic View for ABCB4 Gene

Genes around ABCB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCB4 Gene

Proteins for ABCB4 Gene

  • Protein details for ABCB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21439-MDR3_HUMAN
    Recommended name:
    Phosphatidylcholine translocator ABCB4
    Protein Accession:
    P21439
    Secondary Accessions:
    • A0A2V7
    • A4D1D3
    • A4D1D4
    • A4D1D5
    • D6W5P3
    • D6W5P4
    • Q14813

    Protein attributes for ABCB4 Gene

    Size:
    1286 amino acids
    Molecular mass:
    141523 Da
    Quaternary structure:
    • May interact with RACK1 (PubMed:19674157). Interacts with HAX1 (By similarity).
    SequenceCaution:
    • Sequence=CAA84542.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ABCB4 Gene

    Alternative splice isoforms for ABCB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCB4 Gene

Selected DME Specific Peptides for ABCB4 Gene

P21439:
  • GWKLTLV
  • YGWQLTLLL
  • VQEALDKAR
  • GTHQQLL
  • ILKGLNLKV
  • DVHFSYPSRAN
  • LVGSSGCGKSTVVQLLERFY
  • MTRYAYYYSG
  • EVKKGQTL
  • QLSGGQKQR
  • LGIVSQEP
  • QRIAIARA
  • LTLFRYSDWQDKLFM
  • ALDKAREGRT
  • QLSGGQKQRIAIARALVR
  • GVIVEQG
  • IAHRLSTVR
  • GQTVALVG
  • RNADVIAGF
  • LFDCSIAENI
  • AIRTVIAFGGQ
  • EWPYFVVG
  • VIAHRLST
  • RTVVSLT
  • TFFLQGFTFGKAGEILT
  • LFERQPLIDSYS
  • KILLLDE
  • KIRQKFFHAI
  • GKIATEAIEN
  • KGQTLAL
  • KNSTGALSTRLATD
  • LVRNPKIL
  • SGCGKSTTVQL
  • AFLLIYASYALAFWYG
  • LNVQWLRA
  • ELNTRLTDD
  • LDEATSALDTESE
  • LIGAFSVGQA
  • VIAHRLSTIQNAD
  • LLLDEATSALD
  • AYIQVSFW
  • QEIGWFD
  • SSFAPDYAKA
  • VSQEPVLF
  • KAVKEANAY
  • AHRLSTI
  • AYAKAGAVAEE
  • ANLGTGII
  • FNEVVFNYPTR

Post-translational modifications for ABCB4 Gene

  • Phosphorylated (PubMed:24723470). Phosphorylation on Thr-34 is required for PC efflux activity. Phosphorylation occurs on serine and threonine residues in a protein kinase A- or C-dependent manner (PubMed:24723470). May be phosphorylated on Thr-44 and Ser-49 (PubMed:24723470).
  • Glycosylated (PubMed:17523162, PubMed:24723470, PubMed:21820390).
  • Glycosylation at Asn91 and Asn97
  • Modification sites at PhosphoSitePlus

Domains & Families for ABCB4 Gene

Gene Families for ABCB4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for ABCB4 Gene

GenScript: Design optimal peptide antigens:
  • Variant ATP-binding cassette sub-family B member 4 (A7J1Q3_HUMAN)
  • Truncated ATP-binding cassette sub-family B member 4 (A7J1Q4_HUMAN)
  • Variant ATP-binding cassette sub-family B member 4 (A7J1Q5_HUMAN)
  • Variant ATP-binding cassette sub-family B member 4 (A7J1Q6_HUMAN)
  • Variant ATP-binding cassette sub-family B member 4 (A7J1Q7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P21439

UniProtKB/Swiss-Prot:

MDR3_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
genes like me logo Genes that share domains with ABCB4: view

Function for ABCB4 Gene

Molecular function for ABCB4 Gene

UniProtKB/Swiss-Prot Function:
Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts (PubMed:7957936, PubMed:8898203, PubMed:9366571, PubMed:17523162, PubMed:23468132, PubMed:24806754, PubMed:24723470, PubMed:24594635, PubMed:21820390). Plays a role in the recruitment of phosphatidylcholine (PC), phosphatidylethanolamine (PE) and sphingomyelin (SM) molecules to nonraft membranes and to further enrichment of SM and cholesterol in raft membranes in hepatocytes (PubMed:23468132). Required for proper phospholipid bile formation (By similarity). Indirectly involved in cholesterol efflux activity from hepatocytes into the canalicular lumen in the presence of bile salts in an ATP-dependent manner (PubMed:24045840). Promotes biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed:9366571, PubMed:28012258). In cooperation with ATP8B1, functions to protect hepatocytes from the deleterious detergent activity of bile salts (PubMed:21820390). Does not confer multidrug resistance (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).; EC=7.6.2.1; Evidence={ECO:0000250|UniProtKB:P21440};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphocholine(in) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:38583, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57643, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:P21440};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:36439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:64612, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:8898203};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a sphingomyelin(in) + ATP + H2O = a sphingomyelin(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:38903, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17636, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:8898203};.
UniProtKB/Swiss-Prot Induction:
Up-regulated by PPARA (PubMed:24122873). Up-regulated by compounds that cause peroxisome proliferation, such as fenofibrate (at protein level). Up-regulated by bezafibrate (PubMed:15258199). Up-regulated by compounds that cause peroxisome proliferation, such as fenofibrate, bezafibrate and gemfibrozil (PubMed:24122873).
UniProtKB/Swiss-Prot EnzymeRegulation:
Translocation activity is inhibited by the ATPase inhibitor vanadate and the calcium channel blocker verapamil (PubMed:17523162, PubMed:23468132). Translocation activity is enhanced by the addition of the bile salt taurocholate (PubMed:17523162, PubMed:23468132).
GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 4,involved in phosphatidylcholine translocation into the bile

Enzyme Numbers (IUBMB) for ABCB4 Gene

Phenotypes From GWAS Catalog for ABCB4 Gene

Gene Ontology (GO) - Molecular Function for ABCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 19674157
GO:0005524 ATP binding IEA --
GO:0005548 phospholipid transporter activity TAS --
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with ABCB4: view
genes like me logo Genes that share phenotypes with ABCB4: view

Human Phenotype Ontology for ABCB4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCB4 Gene

MGI Knock Outs for ABCB4:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB4

Clone products for research

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for ABCB4 Gene

Localization for ABCB4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCB4 Gene

Cell membrane. Multi-pass membrane protein. Apical cell membrane. Multi-pass membrane protein. Membrane raft. Cytoplasm. Cytoplasmic vesicle, clathrin-coated vesicle. Note=Localized at the apical canalicular membrane of the epithelial cells lining the lumen of the bile canaliculi and biliary ductules (By similarity). Transported from the Golgi to the apical bile canalicular membrane in a RACK1-dependent manner (PubMed:19674157). Redistributed into pseudocanaliculi formed between cells in a bezafibrate- or PPARA-dependent manner (PubMed:15258199). Localized preferentially in lipid nonraft domains of canalicular plasma membranes (PubMed:23468132). {ECO:0000250 UniProtKB:P21440, ECO:0000269 PubMed:15258199, ECO:0000269 PubMed:19674157, ECO:0000269 PubMed:23468132}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCB4 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 4
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Actin filaments (2)
  • Focal adhesion sites (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 24045840
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7912658
genes like me logo Genes that share ontologies with ABCB4: view

Pathways & Interactions for ABCB4 Gene

genes like me logo Genes that share pathways with ABCB4: view

Pathways by source for ABCB4 Gene

SIGNOR curated interactions for ABCB4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ABCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 7912658
GO:0006869 lipid transport IEA --
GO:0019216 regulation of lipid metabolic process TAS --
GO:0032376 positive regulation of cholesterol transport IMP 24045840
GO:0032782 bile acid secretion ISS --
genes like me logo Genes that share ontologies with ABCB4: view

Drugs & Compounds for ABCB4 Gene

(28) Drugs for ABCB4 Gene - From: DrugBank, PharmGKB, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Etravirine Approved Pharma Transporter, inhibitor 83
Silodosin Approved Pharma Transporter, substrate α1-adrenoceptor antagonist 25
Terbinafine Approved, Investigational, Vet_approved Pharma Transporter, substrate 40
imatinib Approved Pharma Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
Colchicine Approved Pharma Tubulin Inhibitor 180

(16) Additional Compounds for ABCB4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CE(22:0)
  • 1-Tetradecanoyl-2-octadecanoyl-sn-glycero-3-phosphocholine
  • GPCho(14:0/18:0)
  • Phosphatidylcholine(14:0/18:0)
  • 1-Myristoyl-2-stearoylphosphatidylcholine
  • 1m-2S-PC
61510-09-6
PC(18:1(9Z)e/2:0)
  • (2-Acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
PC(20:2(11Z,14Z)/18:1(11Z))
  • Phosphatidylcholine(20:2/18:1)
  • GPCho(20:2/18:1)
  • Phosphatidylcholine(38:3)
  • PC(38:3)
  • Lecithin
PC(22:4(7Z,10Z,13Z,16Z)/18:1(11Z))
  • PC(22:4/18:1)
  • Phosphatidylcholine(22:4/18:1)
  • Phosphatidylcholine(40:5)
  • 1-Adrenoyl-2-vaccenoyl-sn-glycero-3-phosphocholine
  • GPCho(40:5)
2461-62-3
Phosphatidylcholines Group A
  • (R-(Z,Z))-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • 1,2-Di-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine
  • 1,2-Dioleoyl-L-alpha-lecithin
  • 1-(9Z)-Octadecenoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphocholine
  • 1-C18:1(Omega-9)-2-C18:1(omega-9)-phosphatidylcholine
4235-95-4, 18194-24-6, 944466-40-4, 92345-33-0, 253127-60-5, 53595-24-7, 59403-51-9, 26853-31-6, 17708-90-6, 203393-39-9, 203393-41-3, 35418-58-7, 85046-19-1, 56421-10-4, 27098-24-4, 2701-19-1, 85082-02-6, 17041-44-0, 35418-59-8, 1191905-21-1, 85082-03-7, 182820-31-1, 324054-21-9

(3) ApexBio Compounds for ABCB4 Gene

Compound Action Cas Number
Elacridar BCRP inhibitor 143664-11-3
LY335979 (Zosuquidar 3HCL) Pgp (P-glycoprotein) inhibitor 167465-36-3
Tariquidar P-glycoprotein inhibitor,potent and non-competitive 206873-63-4
genes like me logo Genes that share compounds with ABCB4: view

Drug products for research

Transcripts for ABCB4 Gene

mRNA/cDNA for ABCB4 Gene

3 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB4

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for ABCB4 Gene

No ASD Table

Relevant External Links for ABCB4 Gene

GeneLoc Exon Structure for
ABCB4

Expression for ABCB4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABCB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCB4 Gene

This gene is overexpressed in Liver (x33.6).

Protein differential expression in normal tissues from HIPED for ABCB4 Gene

This gene is overexpressed in Liver (66.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCB4 Gene



Protein tissue co-expression partners for ABCB4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCB4

SOURCE GeneReport for Unigene cluster for ABCB4 Gene:

Hs.654403

Evidence on tissue expression from TISSUES for ABCB4 Gene

  • Liver(4.7)
  • Gall bladder(2.6)
  • Blood(2.4)
  • Intestine(2.4)
  • Kidney(2.2)
  • Spleen(2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCB4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • diaphragm
  • esophagus
  • lung
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with ABCB4: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for ABCB4 Gene

Orthologs for ABCB4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCB4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABCB4 29 30
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABCB4 29 30
  • 89.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABCB4 29 30
  • 88.5 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ABCB4 30
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Abcb4 29 16 30
  • 87.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abcb4 29
  • 86.73 (n)
Chicken
(Gallus gallus)
Aves ABCB1LA 29
  • 73 (n)
-- 30
  • 66 (a)
ManyToMany
ABCB1LB 30
  • 65 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 69 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii abcb4 30
  • 63 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Mdr65 29 30 31
  • 51.34 (n)
ManyToMany
Mdr50 30 31
  • 42 (a)
ManyToMany
Mdr49 30 31
  • 41 (a)
ManyToMany
CG10226 30 31
  • 38 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea pgp-2 30 31
  • 45 (a)
OneToMany
pgp-1 31
  • 43 (a)
pgp-4 31
  • 40 (a)
pgp-12 31
  • 38 (a)
pgp-14 31
  • 38 (a)
pgp-15 31
  • 36 (a)
pgp-5 31
  • 35 (a)
pgp-6 31
  • 35 (a)
pgp-7 31
  • 35 (a)
pgp-11 31
  • 33 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE6 30
  • 25 (a)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os01g0534700 29
  • 52.06 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.8 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 52 (a)
ManyToMany
-- 30
  • 47 (a)
ManyToMany
CSA.4293 30
  • 46 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1721 29
Species where no ortholog for ABCB4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ABCB4 Gene

ENSEMBL:
Gene Tree for ABCB4 (if available)
TreeFam:
Gene Tree for ABCB4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCB4: view image
Alliance of Genome Resources:
Additional Orthologs for ABCB4

Paralogs for ABCB4 Gene

(39) SIMAP similar genes for ABCB4 Gene using alignment to 34 proteins:

  • MDR3_HUMAN
  • A7J1Q3_HUMAN
  • A7J1Q4_HUMAN
  • A7J1Q5_HUMAN
  • A7J1Q6_HUMAN
  • A7J1Q7_HUMAN
  • A7J1Q8_HUMAN
  • A7J1Q9_HUMAN
  • A7J1R0_HUMAN
  • A7J1R1_HUMAN
  • A7J1R2_HUMAN
  • A7J1R3_HUMAN
  • A7J1R4_HUMAN
  • A7J1R5_HUMAN
  • A7J1R6_HUMAN
  • A7J1R7_HUMAN
  • A7J1R8_HUMAN
  • A7J1R9_HUMAN
  • A7J1S0_HUMAN
  • A7J1S1_HUMAN
  • A7J1S2_HUMAN
  • A7J1S3_HUMAN
  • A7J1S4_HUMAN
  • A7J1S5_HUMAN
  • A7K6Y6_HUMAN
  • A8HT68_HUMAN
  • A8HT72_HUMAN
  • E5LR39_HUMAN
  • E7EQI1_HUMAN
  • H7C0M2_HUMAN
  • Q4G0Q4_HUMAN
  • Q6PJ81_HUMAN
  • Q75MQ5_HUMAN
  • V5N6U4_HUMAN

Pseudogenes.org Pseudogenes for ABCB4 Gene

genes like me logo Genes that share paralogs with ABCB4: view

Variants for ABCB4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCB4 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1028758 Uncertain Significance: Progressive familial intrahepatic cholestasis 3 87,443,759(-) G/A
NM_000443.4(ABCB4):c.1134C>T (p.Asp378=)
SYNONYMOUS
812921 Pathogenic: Cholestasis, intrahepatic, of pregnancy 3 87,413,271(-) CACTGCAAAGAAAGGT
NM_000443.4(ABCB4):c.2683-883_2783+345del
SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR
871118 Uncertain Significance: not provided 87,420,052(-) G/A
NM_000443.4(ABCB4):c.2340C>T (p.Gly780=)
SYNONYMOUS
871119 Likely Pathogenic: not provided 87,443,392(-) A/T
NM_000443.4(ABCB4):c.1283T>A (p.Val428Asp)
MISSENSE
908141 Uncertain Significance: Progressive familial intrahepatic cholestasis 3; Cholestasis, intrahepatic, of pregnancy 3 87,452,969(-) T/C
NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ABCB4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ABCB4 Gene

Variant ID Type Subtype PubMed ID
nsv428177 CNV loss 18775914
nsv464622 CNV gain 19166990
nsv464623 CNV gain 19166990
nsv523246 CNV loss 19592680
nsv607725 CNV gain 21841781
nsv607726 CNV gain 21841781
nsv607727 CNV loss 21841781

Variation tolerance for ABCB4 Gene

Residual Variation Intolerance Score: 6.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.36; 94.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCB4 Gene

Human Gene Mutation Database (HGMD)
ABCB4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCB4
Leiden Open Variation Database (LOVD)
ABCB4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB4 Gene

Disorders for ABCB4 Gene

MalaCards: The human disease database

(48) MalaCards diseases for ABCB4 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search ABCB4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MDR3_HUMAN
  • Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO:0000269 PubMed:11313315, ECO:0000269 PubMed:12671900, ECO:0000269 PubMed:17726488, ECO:0000269 PubMed:21119540, ECO:0000269 PubMed:24045840, ECO:0000269 PubMed:24594635, ECO:0000269 PubMed:24806754, ECO:0000269 PubMed:28012258, ECO:0000269 PubMed:9419367}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]: A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine. {ECO:0000269 PubMed:10767346, ECO:0000269 PubMed:12746424, ECO:0000269 PubMed:15077010}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Gallbladder disease 1 (GBD1) [MIM:600803]: One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. {ECO:0000269 PubMed:11313316, ECO:0000269 PubMed:12891548, ECO:0000269 PubMed:22331132, ECO:0000269 PubMed:23533021, ECO:0000269 PubMed:24723470, ECO:0000269 PubMed:28012258, ECO:0000269 PubMed:28587926, ECO:0000269 Ref.2}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ABCB4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ABCB4: view

No data available for Genatlas for ABCB4 Gene

Publications for ABCB4 Gene

  1. Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. (PMID: 15077010) Pauli-Magnus C … Kullak-Ublick GA (Pharmacogenetics 2004) 3 4 22 40 72
  2. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. (PMID: 11313316) Rosmorduc O … Poupon R (Gastroenterology 2001) 2 3 4 22 72
  3. A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT. (PMID: 19261551) Tavian D … Coviello DA (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2009) 3 4 22 40
  4. ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy. (PMID: 19584064) Bacq Y … Andres CR (Journal of medical genetics 2009) 3 22 40 72
  5. Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. (PMID: 17264802) Lang C … Pauli-Magnus C (Pharmacogenetics and genomics 2007) 3 4 22 40

Products for ABCB4 Gene

Sources for ABCB4 Gene