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ABCB4 Gene

protein-coding   GIFtS: 67
GCID: GC07M087031

ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 4


(Previous symbols: PGY3, MDR3)
  See ABCB4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 41 2     MDR22
MDR31 2 3 5     MDR2/32
PGY31 2 3 5     PFIC-32
ATP-Binding Cassette Sub-Family B Member 42 3     Multidrug Resistance Protein 32
P-Glycoprotein 32 3     Multiple Drug Resistance 32
EC 3.6.3.443 8     P Glycoprotein 3/Multiple Drug Resistance 32
ICP32 5     P-Glycoprotein-3/Multiple Drug Resistance-32
ABC212     EC 3.6.38
GBD12     

External Ids:    HGNC: 451   Entrez Gene: 52442   Ensembl: ENSG000000054717   OMIM: 1710605   UniProtKB: P214393   

Export aliases for ABCB4 gene to outside databases

Previous GC identifers: GC07M085566 GC07M086629 GC07M086643 GC07M086676 GC07M086869 GC07M081642


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 intrahepatic cholestasis of pregnancy, and cholestasis, progressive familial intrahepatic 3. GO annotations related to this gene include xenobiotic-transporting ATPase activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCB1.

UniProtKB/Swiss-Prot: MDR3_HUMAN, P21439
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

Gene Wiki entry for ABCB4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCB4 gene promoter:
         MEF-2A   AML1a   POU2F1   POU2F1a   STAT3   Tal-1beta   E47   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ABCB4 promoter sequence
   Search Chromatin IP Primers for ABCB4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCB4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q21.1   Ensembl cytogenetic band:  7q21.12   HGNC cytogenetic band: 7q21

ABCB4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCB4 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M087031:  view genomic region     (about GC identifiers)

Start:
87,031,013 bp from pter      End:
87,109,751 bp from pter
Size:
78,739 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 86,362,871-86,436,531     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MDR3_HUMAN, P21439 (See protein sequence)
Recommended Name: Multidrug resistance protein 3  
Size: 1286 amino acids; 141523 Da
Subunit: Interacts with HAX1 (By similarity)
Sequence caution: Sequence=CAA84542.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
Secondary accessions: A0A2V7 A4D1D3 A4D1D4 A4D1D5 D6W5P3 D6W5P4 Q14813
Alternative splicing: 3 isoforms:  P21439-1   P21439-2   P21439-3   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for ABCB4: NX_P21439

Explore proteomics data for ABCB4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn91, Asn97
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ABCB4 (P21439) (see all 49)
     GWKLTLV  RTVVSLT  KILLLDE  GTHQQLL 


    See ABCB4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000434.1  NP_061337.1  NP_061338.1  

    ENSEMBL proteins: 
     ENSP00000395716   ENSP00000352135   ENSP00000265723   ENSP00000392983   ENSP00000394511  
     ENSP00000351172   ENSP00000437465  
    Reactome Protein details: P21439

    ABCB4 Human Recombinant Protein Products:

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    Novus Biologicals ABCB4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABCB4

     
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    antibodies-online proteins for ABCB4 

     
    antibodies-online peptides for ABCB4

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    EMD Millipore Mono- and Polyclonal Antibodies for the study of ABCB4
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    antibodies-online antibodies for ABCB4 (30 products) 

    ABCB4 Assay Products:

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    antibodies-online kits for ABCB4 (7 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ABCB: ATP binding cassette transporters / subfamily B

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCB4
    ABCB subfamily

    Selected InterPro protein domains (see all 6):
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR011527 ABC1_TM_dom

    Graphical View of Domain Structure for InterPro Entry P21439

    ProtoNet protein and cluster: P21439

    UniProtKB/Swiss-Prot: MDR3_HUMAN, P21439
    Similarity: Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201)
    subfamily
    Similarity: Contains 2 ABC transmembrane type-1 domains
    Similarity: Contains 2 ABC transporter domains


    Find genes that share domains with ABCB4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MDR3_HUMAN, P21439
    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
    Catalytic activity: ATP + H(2)O + xenobiotic(In) = ADP + phosphate + xenobiotic(Out)

         Genatlas biochemistry entry for ABCB4:
    ATP binding cassette superfamily,subfamily B (MDR/TAP),member 4,involved in phosphatidylcholine translocation into
    the bile

         Enzyme Numbers (IUBMB): EC 3.6.3.441 2 EC 3.6.32

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding IEA--
    GO:0008559xenobiotic-transporting ATPase activity IEA--
    GO:0016301kinase activity ----
    GO:0016887ATPase activity ----
         
    Find genes that share ontologies with ABCB4           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ABCB4:
     Increased cell death in breast 

         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abcb4):
     cardiovascular system  digestive/alimentary  endocrine/exocrine gland  homeostasis/metabolism  immune system 
     liver/biliary system  reproductive system  skeleton  tumorigenesis 

    Find genes that share phenotypes with ABCB4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Abcb4tm1Bor for ABCB4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCB4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ABCB4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCB4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCB4

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

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for ABCB4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ABCB4 (NM_000443)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCB4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCB4

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MDR3_HUMAN, P21439: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    golgi apparatus3
    extracellular2
    nucleus2
    cytoskeleton1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IBA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS7912658
    GO:0016020membrane TAS7912658
    GO:0016021integral component of membrane IBA--

    Find genes that share ontologies with ABCB4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ABCB4 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3ABC-family proteins mediated transport
    ABC transporters0.69
    4Hepatic ABC Transporters
    Hepatic ABC Transporters0.41
    5Nuclear receptors in lipid metabolism and toxicity
    Nuclear receptors in lipid metabolism and toxicity


    Find genes that share SuperPaths with ABCB4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ABCB4
        Hepatic ABC Transporters

    1 BioSystems Pathway for ABCB4
        Nuclear receptors in lipid metabolism and toxicity

    1 Reactome Pathway for ABCB4
        PPARA activates gene expression


    2 Kegg Pathways  (Kegg details for ABCB4):
        ABC transporters
    Bile secretion

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ABCB4: 
              Drug Transporters in human mouse rat
              Cancer Drug Resistance in human mouse rat
              Hepatotoxicity in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Drug Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ABCB4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for ABCB4 (P214393 ENSP000002657234) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HAX1O001653, ENSP000003290024I2D: score=4 STRING: ENSP00000329002
    UBQLN1Q9UMX03I2D: score=5 
    RPS11P622803I2D: score=2 
    CHD9ENSP000003815224STRING: ENSP00000381522
    CREBBPENSP000002623674STRING: ENSP00000262367
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process TAS7912658
    GO:0006810transport TAS8106172
    GO:0042493response to drug TAS7912658
    GO:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with ABCB4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ABCB4 (MDR3)

    Selected HMDB Compounds for ABCB4 (see all 1075)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PC(14:0/14:0)Phosphatidylcholine(14:0/14:0) (see all 8)----
    PC(14:0/14:1(9Z))Phosphatidylcholine(14:0/14:1) (see all 14)----
    PC(14:0/15:0)GPCho(14:0/15:0) (see all 8)----
    PC(14:0/16:0)GPCho(30:0) (see all 8)----
    PC(14:0/16:1(9Z))1-myristoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine (see all 14)----
    PC(14:0/18:0)1-myristoyl-2-stearoyl-sn-glycero-3-phosphocholine (see all 8)----
    PC(14:0/18:1(11Z))Phosphatidylcholine(14:0/18:1w7) (see all 14)----
    PC(14:0/18:1(9Z))1-myristoyl-2-oleoyl-sn-glycero-3-phosphocholine (see all 14)----
    PC(14:0/18:2(9Z,12Z))Phosphatidylcholine(32:2) (see all 14)----
    PC(14:0/18:3(6Z,9Z,12Z))GPCho(14:0/18:3w6) (see all 15)----

    2 DrugBank Compounds for ABCB4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ColchicineColchicin (see all 3)64-86-8transporterinducer7890890
    SilodosinKAD 3213 (see all 2)160970-54-7transportersubstrate16518089

    Selected Novoseek inferred chemical compound relationships for ABCB4 gene (see all 28)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ursodeoxycholic acid 74.1 3 17786139 (1), 11745043 (1), 18188816 (1)
    phospholipid 68.3 33 9696021 (2), 14708891 (1), 9802889 (1), 17539998 (1) (see all 25)
    taurocholate 67.9 5 16637898 (2), 18327154 (1), 12388190 (1)
    phosphatidylcholine 62.7 28 15258199 (2), 15696852 (2), 11147995 (1), 19674157 (1) (see all 17)
    estradiol-17beta-glucuronide 61.9 1 12388190 (1)
    bezafibrate 59.9 26 15258199 (7), 17539998 (5), 20040336 (3), 19059530 (1)
    glycocholate 57.3 1 12388190 (1)
    rhodamine 123 57.2 1 8105101 (1)
    adriamycin 48.8 16 17357504 (4), 8626756 (3), 8605275 (1), 8831695 (1)
    cholesterol 43.7 33 11313316 (4), 16698593 (4), 17786139 (3), 11745043 (2) (see all 11)



    Find genes that share compounds with ABCB4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ABCB4 gene (3 alternative transcripts): 
    NM_000443.3  NM_018849.2  NM_018850.2  

    Unigene Cluster for ABCB4:

    ATP-binding cassette, sub-family B (MDR/TAP), member 4
    Hs.654403  [show with all ESTs]
    Unigene Representative Sequence: BC042531
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000440025 ENST00000359206 ENST00000265723(uc003uiv.1 uc003uiw.1)
    ENST00000453593 ENST00000467983 ENST00000467079 ENST00000469770 ENST00000473795(uc003uiy.3)
    ENST00000417608 ENST00000358400(uc003uix.1) ENST00000545634
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    GenScript: all cDNA clones in your preferred vector (see all 3): ABCB4 (NM_000443)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCB4
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      QuantiTect SYBR Green Assays in human, mouse, rat ABCB4
      QuantiFast Probe-based Assays in human, mouse, rat ABCB4

    Additional mRNA sequence: 

    BC020618.2 BC042531.1 M23234.1 X06181.1 Z35284.1 

    7 DOTS entries:

    DT.91720305  DT.455047  DT.312416  DT.92417014  DT.95203605  DT.99987513  DT.97777494 

    24 AceView cDNA sequences:

    BX325245 M23234 BC020618 AA677416 AI708606 X06181 BC042531 BX282642 
    BX392299 BV167064 BG618391 CD245608 NM_000443 BX325244 NM_018850 NM_018849 
    BF796582 Z35284 BQ324988 BG772586 BM918731 BF671299 AI922477 BF885506 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ABCB4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCACGCATCA
    ABCB4 Expression
    About this image


    ABCB4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Granulosa Cells Primary Follicle
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Mature B-Cells Peripheral Blood
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    ABCB4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCB4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654403
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ABCB4: 
              Drug Transporters in human mouse rat
              Cancer Drug Resistance in human mouse rat
              Hepatotoxicity in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Drug Metabolism in human mouse rat

    Primer
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCB4 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcb41 , 5 ATP-binding cassette, sub-family B (MDR/TAP), member more1, 5 87.34(n)1
    91.29(a)1
      5 (3.43 cM)5
    186701  NM_008830.21  NP_032856.21 
     88937215 
    chicken
    (Gallus gallus)
    Aves ABCB1LA1 ATP-binding cassette, sub-family B (MDR/TAP), member more 73(n)
    73.21(a)
      420534  XM_418636.4  XP_418636.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    69(a)
    1 → many
    6(19282685-19336701)
    African clawed frog
    (Xenopus laevis)
    Amphibia U17608.12   -- 74.48(n)    U17608.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abcb46
    ATP-binding cassette, sub-family B (MDR/TAP), memb...
    63(a)
    1 → many
    16(30856980-30886580) ENSDARG00000010936
    fruit fly
    (Drosophila melanogaster)
    Insecta CG102263
    Mdr651
    multidrug transporter3
    Multiple drug resistance 651
    64(a)
    (best of 4)3
    51.34(n)1
    45.49(a)1
      65A103
    387261  NM_057483.41  NP_476831.11 
    worm
    (Caenorhabditis elegans)
    Secernentea pgp-23 abc transporter 46(a)
    (best of 10)
      I(5897001-5903773)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes STE66
    Plasma membrane ATP-binding cassette (ABC) transpo...
    25(a)
    1 → many
    XI(42423-46295) YKL209C
    rice
    (Oryza sativa)
    Liliopsida Os01g05347001 Os01g0534700 52.06(n)
    43.83(a)
      9268765  NM_001185465.1  NP_001172394.1 


    ENSEMBL Gene Tree for ABCB4 (if available)
    TreeFam Gene Tree for ABCB4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCB4 gene
    ABCB12  ABCB112  ABCB52  
    Selected SIMAP similar genes for ABCB4 using alignment to 34 protein entries:     MDR3_HUMAN (see all proteins) (see all similar genes):
    MDR3    MDR1    ABCB1    TAP2    DKFZp547O175    LOC402251
    ABCB11    ABCB5    TAP2-G    ABCB9    TAP1    ABCC8
    ABCC5    ABCB10    NG-TRA    ABCC9    ABCB8    ABCC12

    Find genes that share paralogs with ABCB4           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ABCB4
    PGOHUM00000246115


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ABCB4 (see all 1628)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs561871071,2,,4
    CCholestasis, progressive familial intrahepatic, 3 (PFIC3)4 --90345925(+) TGCACC/TAAATA 6 S G mis10--------
    rs617305091,2,,4
    C,FGallbladder disease 1 (GBD1)4 --90348572(+) GTGTGC/TCTTCT 5 T A int1 mis12Minor allele frequency- T:0.00NS NA 4594
    VAR_0430804
    Cholestasis, progressive familial intrahepatic, 3 (PFIC3)4--see VAR_0430802 W R mis40--------
    VAR_0235034
    Cholestasis of pregnancy, intrahepatic 3 (ICP3)4--see VAR_0235032 A D mis40--------
    VAR_0430814
    Cholestasis of pregnancy, intrahepatic 3 (ICP3)4--see VAR_0430812 R K mis40--------
    VAR_0430874
    Cholestasis, progressive familial intrahepatic, 3 (PFIC3)4--see VAR_0430872 T A mis40--------
    VAR_0235024
    Gallbladder disease 1 (GBD1)4--see VAR_0235022 S F mis40--------
    VAR_0430964
    Gallbladder disease 1 (GBD1)4--see VAR_0430962 L Q mis40--------
    VAR_0430934
    Cholestasis, progressive familial intrahepatic, 3 (PFIC3)4--see VAR_0430932 L R mis40--------
    VAR_0430944
    Cholestasis, progressive familial intrahepatic, 3 (PFIC3)4--see VAR_0430942 D G mis40--------

    HapMap Linkage Disequilibrium report for ABCB4 (87031013 - 87109751 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABCB4 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv7383n71CNV Loss21882294
    nsv888678CNV Loss21882294
    nsv888686CNV Loss21882294
    dgv7382n71CNV Loss21882294
    nsv888690CNV Loss21882294
    nsv428177CNV Loss18775914
    nsv523246CNV Loss19592680
    nsv888689CNV Loss21882294
    nsv464622CNV Gain19166990
    nsv464623CNV Gain19166990

    Human Gene Mutation Database (HGMD): ABCB4
    Locus Specific Mutation Databases (LSDB): ABCB4

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCB4
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCB4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 171060   
    OMIM disorders: 602347  614972  600803  
    UniProtKB/Swiss-Prot: MDR3_HUMAN, P21439
  • 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. 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. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 13 diseases for ABCB4:    
    About MalaCards
    intrahepatic cholestasis of pregnancy    cholestasis, progressive familial intrahepatic 3    gallbladder disease 1    cholestasis, intrahepatic, of pregnancy, 3
    gallbladder disease    cholelithiasis    cholangitis    cholestasis, intrahepatic, of pregnancy, 1
    adult syndrome    choledocholithiasis    alagille syndrome    cholestasis
    intrahepatic cholestasis

    4 diseases from the University of Copenhagen DISEASES database for ABCB4:
    Cholestasis     Liver disease     Cholelithiasis     Cholangitis

    Find genes that share disorders with ABCB4           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ABCB4 gene (see all 32)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pfic3 97.5 32 11745043 (4), 17726488 (4), 20422496 (3), 19840255 (3) (see all 13)
    cholestasis intrahepatic 93.7 57 18083082 (4), 11420418 (3), 19261551 (3), 16696816 (3) (see all 32)
    pfic2 91.9 9 20414253 (2), 19753442 (1), 17241866 (1), 16763017 (1)
    byler disease 86.9 5 20414253 (2), 19753442 (1), 17241866 (1)
    cholestasis 85 39 17264802 (3), 12381474 (3), 12206920 (3), 11420418 (2) (see all 19)
    biliary cirrhosis 69.8 5 11420418 (1), 12671900 (1), 17295178 (1), 17273143 (1)
    liver diseases 66.2 9 20422496 (3), 19674157 (1), 11745043 (1), 18781607 (1) (see all 6)
    biliary cirrhosis primary 61.9 6 14999697 (2), 9126799 (1), 17295178 (1)
    cholelithiasis 54.9 12 17786139 (2), 17273143 (2), 20422496 (1), 11313316 (1) (see all 8)
    cholangitis 48.6 3 17539998 (2), 15258199 (1)

    Genetic Association Database (GAD): ABCB4
    Human Genome Epidemiology (HuGE) Navigator: ABCB4 (30 documents)

    Export disorders for ABCB4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ABCB4 gene, integrated from 10 sources (see all 209):
    (articles sorted by number of sources associating them with ABCB4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. (PubMed id 15077010)1, 2, 4, 9 Pauli-Magnus C.... Kullak-Ublick G.A. (Pharmacogenetics 2004)
    2. Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. (PubMed id 17264802)1, 2, 4, 9 Lang C.... Pauli-Magnus C. (Pharmacogenet. Genomics 2007)
    3. Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). (PubMed id 16763017)1, 2, 4, 9 Lang T.... Kerb R. (Drug Metab. Dispos. 2006)
    4. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. (PubMed id 11313316)1, 2, 3, 9 Rosmorduc O.... Poupon R. (Gastroenterology 2001)
    5. ABCB4 gene mutation-associated cholelithiasis in adults. (PubMed id 12891548)1, 2, 4 Rosmorduc O....Poupon R. (Gastroenterology 2003)
    6. The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver. (PubMed id 2892668)1, 2, 3 van der Bliek A.M.... Borst P. (EMBO J. 1987)
    7. BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis. (PubMed id 14999697)1, 4, 9 Pauli-Magnus C....Meier P.J. (Hepatology 2004)
    8. ABCB4 sequence variations in young adults with cholesterol gallstone disease. (PubMed id 19018976)1, 4, 9 Nakken K.E....Raeder M.G. (Liver Int. 2009)
    9. Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls. (PubMed id 19408031)1, 4, 9 Acalovschi M....Lammert F. (Lipids 2009)
    10. Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. (PubMed id 18083082)1, 4, 9 Floreani A....Mazzella G. (Dig Liver Dis 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5244 HGNC: 45 AceView: ABCB4 Ensembl:ENSG00000005471 euGenes: HUgn5244
    ECgene: ABCB4 Kegg: 5244 H-InvDB: ABCB4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ABCB4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ABCB4[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/abcb4/
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=P21439

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCB4 gene:
    Search GeneIP for patents involving ABCB4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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