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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
  • Multidrug Resistance Protein 3 3 4
  • P-Glycoprotein 3 3 4
  • EC 3.6.3.44 4 61
  • MDR3 3 4
  • PGY3 3 4
  • P-Glycoprotein-3/Multiple Drug Resistance-3 3
  • Phosphatidylcholine Translocator ABCB4 3
  • Multiple Drug Resistance 3 3
  • EC 3.6.3 61
  • MDR2/3 3
  • PFIC-3 3
  • ABC21 3
  • GBD1 3
  • ICP3 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 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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolism. 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 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 fu rther 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). May promote biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed:9366571). 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCB4 Gene

Genomics for ABCB4 Gene

Regulatory Elements for ABCB4 Gene

Enhancers for ABCB4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F087464 1.2 Ensembl ENCODE 17.9 +15.1 15104 0.8 ELF3 ARID4B DMAP1 ZNF48 ZSCAN9 DNMT3B RARA GLIS2 GATA4 SCRT2 ABCB4 GC07P087475 GC07P087409
GH07F087473 1 ENCODE 18.8 +5.4 5366 2.3 PKNOX1 FEZF1 ZNF48 CBX5 JUNB TBX21 PPARG CBX8 MXD3 NBN ABCB4 GC07P087475 GC07P087409
GH07F087873 1.1 ENCODE 6.6 -396.5 -396454 6.4 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 ZNF207 TMEM243 RUNDC3B SLC25A40 ABCB4 ADAM22
GH07F087498 0.4 ENCODE 11.6 -18.0 -17970 0.6 CBFB TCF7L2 ABCB4 RUNDC3B GC07M087467 HNRNPA1P9
GH07F088020 0.2 ENCODE 5.1 -540.7 -540656 0.5 ABCB4 GC07P088050 GC07M087968
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCB4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCB4 Gene

Chromosome:
7
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

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};

    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

  • Glycosylated (PubMed:17523162, PubMed:24723470, PubMed:21820390).
  • 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).
  • Glycosylation at Asn 91 and Asn 97
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ABCB4 Gene

Gene Families for ABCB4 Gene

Graphical View of Domain Structure for InterPro Entry

P21439

UniProtKB/Swiss-Prot:

MDR3_HUMAN :
  • Contains 2 ABC transmembrane type-1 domains.
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
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 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).
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 fu rther 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). May promote biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed:9366571). 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 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).

Enzyme Numbers (IUBMB) for ABCB4 Gene

Gene Ontology (GO) - Molecular Function for ABCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19674157
GO:0005524 ATP binding IEA --
GO:0005548 phospholipid transporter activity TAS --
GO:0008525 phosphatidylcholine transporter activity IMP 24045840
GO:0008559 xenobiotic-transporting 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:

Animal Model Products

Flow Cytometry Products

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
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ABCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 24045840
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS 7912658
GO:0016020 membrane IEA,TAS 7912658
GO:0016021 integral component of membrane IEA --
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

Gene Ontology (GO) - Biological Process for ABCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0001890 placenta development IEA --
GO:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent IBA --
GO:0002485 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent IBA --
GO:0002489 antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent IBA --
genes like me logo Genes that share ontologies with ABCB4: view

No data available for SIGNOR curated interactions for ABCB4 Gene

Drugs & Compounds for ABCB4 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist, Transporter, inducer Tubulin Inhibitor, Inhibitor of tubulin 111
Etravirine Approved Pharma Transporter, inhibitor 74
Silodosin Approved Pharma Antagonist, Transporter, substrate α1-adrenoceptor antagonist 22
Elacridar Investigational Pharma BCRP inhibitor 0
anthracyclines and related substances Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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)
Phosphatidylcholines Group A
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-Trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
68737-67-7
Phosphatidylcholines Group B
  • 1-(1-Enyl-palmitoyl)-2-stearidonoyl-sn-glycero-3-phosphocholine
  • GPCho(16:0/18:4)
  • GPCho(16:0/18:4n3)
  • GPCho(16:0/18:4w3)
  • GPCho(34:4)
88542-95-4

(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

Transcripts for ABCB4 Gene

Unigene Clusters for ABCB4 Gene

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

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 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, PaxDb, and MOPED for ABCB4 Gene



Protein tissue co-expression partners for ABCB4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCB4 Gene:

ABCB4

SOURCE GeneReport for Unigene cluster for ABCB4 Gene:

Hs.654403
genes like me logo Genes that share expression patterns with ABCB4: view

Primer 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 34 35
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia ABCB4 34 35
  • 89.44 (n)
cow
(Bos Taurus)
Mammalia ABCB4 34 35
  • 88.5 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCB4 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb4 34 16 35
  • 87.34 (n)
rat
(Rattus norvegicus)
Mammalia Abcb4 34
  • 86.73 (n)
chicken
(Gallus gallus)
Aves ABCB1LA 34
  • 73 (n)
-- 35
  • 66 (a)
ManyToMany
ABCB1LB 35
  • 65 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 69 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii abcb4 35
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10226 36 35
  • 64 (a)
Mdr65 36 34 35
  • 51.34 (n)
Mdr50 36 35
  • 43 (a)
Mdr49 36 35
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea pgp-2 36 35
  • 46 (a)
pgp-1 36
  • 43 (a)
pgp-4 36
  • 40 (a)
pgp-12 36
  • 38 (a)
pgp-14 36
  • 38 (a)
pgp-15 36
  • 36 (a)
pgp-5 36
  • 35 (a)
pgp-6 36
  • 35 (a)
pgp-7 36
  • 35 (a)
pgp-11 36
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE6 35
  • 25 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os01g0534700 34
  • 52.06 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.8 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
ManyToMany
-- 35
  • 47 (a)
ManyToMany
CSA.4293 35
  • 46 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1721 34
Species where no ortholog for ABCB4 was found in the sources mined by GeneCards:
  • 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
rs121918441 Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972], Pathogenic 87,439,761(-) ACGTG(A/C)CCTGG nc-transcript-variant, reference, missense
rs121918442 Gallbladder disease 1 (GBD1) [MIM:600803], Pathogenic 87,406,293(-) CGTTA(C/T)CCCAC nc-transcript-variant, reference, missense
rs121918443 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347], Pathogenic 87,443,686(-) TTTCT(C/T)ACCCT nc-transcript-variant, reference, missense
rs138773456 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] 87,423,973(+) ATACT(A/G)TTCCC nc-transcript-variant, reference, missense
rs141677867 Gallbladder disease 1 (GBD1) [MIM:600803], Uncertain significance 87,423,940(-) TCAGC(C/T)GGCAT nc-transcript-variant, reference, missense

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)

Relevant External Links for ABCB4 Gene

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

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

Disorders for ABCB4 Gene

MalaCards: The human disease database

(28) MalaCards diseases for ABCB4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cholestasis, progressive familial intrahepatic 3
  • cholestasis, progressive familial intrahepatic, 3
gallbladder disease 1
  • cholelithiasis
cholestasis, intrahepatic, of pregnancy, 3
  • cholestasis of pregnancy, intrahepatic 3
cholestasis, familial intrahepatic, of pregnancy 3
  • icp3
low gamma-gt familial intrahepatic cholestasis
  • cholestasis, progressive familial intrahepatic 3
- 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 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.
  • 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:9419367}. 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, ECO:0000269 PubMed:22331132, ECO:0000269 PubMed:23533021, ECO:0000269 PubMed:24723470, ECO:0000269 Ref.2}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ABCB4

Genetic Association Database (GAD)
ABCB4
Human Genome Epidemiology (HuGE) Navigator
ABCB4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCB4
genes like me logo Genes that share disorders with ABCB4: view

No data available for Genatlas for ABCB4 Gene

Publications for ABCB4 Gene

  1. A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT. (PMID: 19261551) Tavian D. … Coviello D.A. (Dig Liver Dis 2009) 3 4 22 46 64
  2. 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 22 46 64
  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 22 46 64
  4. 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 22 46 64
  5. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. (PMID: 11313316) Rosmorduc O. … Poupon R. (Gastroenterology 2001) 2 3 4 22 64

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