Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ABCB4 Gene

Aliases for ABCB4 Gene

  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 4 2 3
  • MDR3 3 4 6
  • PGY3 3 4 6
  • ATP-Binding Cassette Sub-Family B Member 4 3 4
  • P-Glycoprotein 3 3 4
  • EC 3.6.3.44 4 63
  • ICP3 3 6
  • P Glycoprotein 3/Multiple Drug Resistance 3 3
  • P-Glycoprotein-3/Multiple Drug Resistance-3 3
  • Multidrug Resistance Protein 3 3
  • Multiple Drug Resistance 3 3
  • EC 3.6.3 63
  • MDR2/3 3
  • PFIC-3 3
  • ABC21 3
  • GBD1 3
  • MDR2 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, Sub-Family B (MDR/TAP), Member 4) is a Protein Coding gene. Diseases associated with ABCB4 include gallbladder disease 1 and cholestasis, progressive familial intrahepatic 3. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances and xenobiotic-transporting ATPase activity. An important paralog of this gene is ABCB11.

UniProtKB/Swiss-Prot for ABCB4 Gene

  • Mediates ATP-dependent export of organic anions and drugs from the cytoplasm. Hydrolyzes ATP with low efficiency. Not capable of conferring drug resistance. Mediates the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte

Gene Wiki entry for ABCB4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCB4 Gene

Genomics for ABCB4 Gene

Regulatory Elements for ABCB4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ABCB4 Gene

Start:
87,401,697 bp from pter
End:
87,480,435 bp from pter
Size:
78,739 bases
Orientation:
Minus strand

Genomic View for ABCB4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Multidrug resistance protein 3
    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:
    • Interacts with HAX1.
    SequenceCaution:
    • Sequence=CAA84542.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCB4 Gene

Proteomics data for ABCB4 Gene at MOPED

Post-translational modifications for ABCB4 Gene

  • Glycosylation at Asn91 and Asn97
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCB4 Gene

Domains for ABCB4 Gene

Gene Families for ABCB4 Gene

HGNC:
  • ABCB :ATP binding cassette transporters / subfamily B
IUPHAR :

Protein Domains for ABCB4 Gene

Graphical View of Domain Structure for InterPro Entry

P21439

UniProtKB/Swiss-Prot:

MDR3_HUMAN :
  • P21439
Domain:
  • Contains 2 ABC transmembrane type-1 domains.
  • Contains 2 ABC transporter domains.
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

GENATLAS Biochemistry: ATP binding cassette superfamily,subfamily B (MDR/TAP),member 4,involved in phosphatidylcholine translocation into the bile
UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O + xenobiotic(In) = ADP + phosphate + xenobiotic(Out)
UniProtKB/Swiss-Prot Function: Mediates ATP-dependent export of organic anions and drugs from the cytoplasm. Hydrolyzes ATP with low efficiency. Not capable of conferring drug resistance. Mediates the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte

Enzyme Numbers (IUBMB) for ABCB4 Gene

Gene Ontology (GO) - Molecular Function for ABCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0008559 xenobiotic-transporting ATPase activity IEA --
GO:0016301 kinase activity --
GO:0016887 ATPase activity --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA --
genes like me logo Genes that share ontologies with ABCB4: view
genes like me logo Genes that share phenotypes with ABCB4: view

Animal Models for ABCB4 Gene

MGI Knock Outs for ABCB4:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCB4

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCB4 Gene COMPARTMENTS Subcellular localization image for ABCB4 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 3
extracellular 2
nucleus 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ABCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7912658
GO:0016020 membrane TAS 7912658
GO:0016021 integral component of membrane IBA --
GO:0046581 intercellular canaliculus IEA --
genes like me logo Genes that share ontologies with ABCB4: view

Pathways for ABCB4 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ABCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006629 lipid metabolic process TAS 7912658
GO:0006810 transport TAS 8106172
GO:0006855 drug transmembrane transport IEA --
GO:0042493 response to drug TAS 7912658
genes like me logo Genes that share ontologies with ABCB4: view

Compounds for ABCB4 Gene

(1075) HMDB Compounds for ABCB4 Gene

Compound Synonyms Cas Number PubMed IDs
PC(14:0/14:0)
  • Phosphatidylcholine(14:0/14:0)
Not Available
PC(14:0/14:1(9Z))
  • Phosphatidylcholine(14:0/14:1)
Not Available
PC(14:0/15:0)
  • GPCho(14:0/15:0)
Not Available
PC(14:0/16:0)
  • GPCho(30:0)
Not Available
PC(14:0/16:1(9Z))
  • 1-myristoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine
Not Available

(2) Drugbank Compounds for ABCB4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Colchicine
  • Colchicin
64-86-8 transporter inducer
Silodosin
  • KAD 3213
160970-54-7 transporter substrate

(28) Novoseek inferred chemical compound relationships for ABCB4 Gene

Compound -log(P) Hits PubMed IDs
ursodeoxycholic acid 74.1 3
phospholipid 68.3 26
taurocholate 67.9 4
phosphatidylcholine 62.7 19
estradiol-17beta-glucuronide 61.9 1
genes like me logo Genes that share compounds with ABCB4: view

Transcripts for ABCB4 Gene

Unigene Clusters for ABCB4 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 4:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCB4

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ABCB4

Flow Cytometry Products

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

No ASD Table

Relevant External Links for ABCB4 Gene

GeneLoc Exon Structure for
ABCB4
ECgene alternative splicing isoforms for
ABCB4

Expression for ABCB4 Gene

mRNA expression in normal human tissues 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 (33.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ABCB4 Gene

SOURCE GeneReport for Unigene cluster for ABCB4 Gene Hs.654403

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

In Situ Assay Products

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 35
  • 99.61 (n)
  • 99.53 (a)
ABCB4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABCB4 35
  • 88.5 (n)
  • 88.36 (a)
ABCB4 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCB4 35
  • 89.44 (n)
  • 90.45 (a)
ABCB4 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb4 35
  • 87.34 (n)
  • 91.29 (a)
Abcb4 16
Abcb4 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCB4 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcb4 35
  • 86.73 (n)
  • 91.38 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 66 (a)
ManyToMany
ABCB1LA 35
  • 73 (n)
  • 73.21 (a)
ABCB1LB 36
  • 65 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 69 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii abcb4 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10226 36
  • 38 (a)
ManyToMany
Mdr49 36
  • 41 (a)
ManyToMany
Mdr50 36
  • 42 (a)
ManyToMany
Mdr65 35
  • 51.34 (n)
  • 45.49 (a)
Mdr65 36
  • 41 (a)
ManyToMany
Mdr50 37
  • 43 (a)
Mdr65 37
  • 43 (a)
CG10226 37
  • 64 (a)
Mdr49 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea pgp-2 36
  • 45 (a)
OneToMany
pgp-5 37
  • 35 (a)
pgp-11 37
  • 33 (a)
pgp-14 37
  • 38 (a)
pgp-2 37
  • 46 (a)
pgp-4 37
  • 40 (a)
pgp-7 37
  • 35 (a)
pgp-1 37
  • 43 (a)
pgp-6 37
  • 35 (a)
pgp-12 37
  • 38 (a)
pgp-15 37
  • 36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE6 36
  • 25 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.8 35
rice
(Oryza sativa)
Liliopsida Os01g0534700 35
  • 52.06 (n)
  • 43.83 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1721 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
ManyToMany
-- 36
  • 52 (a)
ManyToMany
CSA.4293 36
  • 46 (a)
ManyToMany
Species with no ortholog for ABCB4:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for ABCB4 Gene

Paralogs for ABCB4 Gene

Pseudogenes.org Pseudogenes for ABCB4 Gene

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

Variants for ABCB4 Gene

Sequence variations from dbSNP and Humsavar for ABCB4 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs31653 -- 87,403,297(+) ACCAA(A/G)TTATA intron-variant
rs31654 -- 87,405,448(+) ttgag(A/T)cggag intron-variant
rs31655 -- 87,406,476(+) CTTTG(C/T)TTCTT missense, reference
rs31656 -- 87,406,599(+) GTCAG(C/G)AGCTT intron-variant
rs31657 -- 87,409,546(+) AGTAA(A/C)AAGAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv888677 CNV Gain 21882294
nsv464622 CNV Gain 19166990
nsv428177 CNV Loss 18775914
nsv888678 CNV Loss 21882294
nsv464623 CNV Gain 19166990
dgv7382n71 CNV Loss 21882294
dgv7383n71 CNV Loss 21882294
nsv523246 CNV Loss 19592680
nsv888686 CNV Loss 21882294
nsv888689 CNV Loss 21882294
nsv888690 CNV Loss 21882294

Relevant External Links for ABCB4 Gene

HapMap Linkage Disequilibrium report
ABCB4
Human Gene Mutation Database (HGMD)
ABCB4
Locus Specific Mutation Databases (LSDB)
ABCB4

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

Disorders for ABCB4 Gene

(3) OMIM Diseases for ABCB4 Gene (171060)

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:9419367}. Note=The disease is caused by mutations 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 mutations 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for ABCB4 Gene

(32) Novoseek inferred disease relationships for ABCB4 Gene

Disease -log(P) Hits PubMed IDs
pfic3 97.5 24
cholestasis intrahepatic 93.7 46
pfic2 91.9 5
byler disease 86.9 4
cholestasis 85 28

Relevant External Links for ABCB4

Genetic Association Database (GAD)
ABCB4
Human Genome Epidemiology (HuGE) Navigator
ABCB4
genes like me logo Genes that share disorders with ABCB4: view

Publications for ABCB4 Gene

  1. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. (PMID: 11313316) Rosmorduc O. … Poupon R. (Gastroenterology 2001) 2 3 4 23
  2. 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 G.A. (Pharmacogenetics 2004) 3 4 23 48
  3. Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). (PMID: 16763017) Lang T. … Kerb R. (Drug Metab. Dispos. 2006) 3 4 23 48
  4. 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. (Pharmacogenet. Genomics 2007) 3 4 23 48
  5. Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations. (PMID: 16696816) Floreani A. … Mazzella G. (Aliment. Pharmacol. Ther. 2006) 3 23 48

Products for ABCB4 Gene

Sources for ABCB4 Gene

Back to Top

Content