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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABCB4 Gene

protein-coding   GIFtS: 66
GCID: GC07M087031

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


(Previous symbols: PGY3, MDR3)
 Explore 45 diseases affiliated with
ABCB4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ABCB4    

Aliases
for ABCB4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 41 2     ABC212
MDR31 2 3 5     ICP32
PGY31 2 3 5     MDR2/32
GBD11 2     Multidrug Resistance Protein 32
MDR21 2     Multiple Drug Resistance 32
PFIC-31 2     P Glycoprotein 3/Multiple Drug Resistance 32
ATP-Binding Cassette Sub-Family B Member 42 3     P-Glycoprotein-3/Multiple Drug Resistance-32
P-Glycoprotein 32 3     EC 3.6.38
EC 3.6.3.443 8     

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


Summaries
for ABCB4 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ABCB4:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ABCB4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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     

Proteins
for ABCB4 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Cell membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P21439

    • 4/49 DME Specific Peptides for ABCB4 (P21439) (see all 49)
     GWKLTLV  RTVVSLT  KILLLDE  GTHQQLL 

    ABCB4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Uscn Proteins for ABCB4

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IBA--
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS7912658
    GO:0016020membrane TAS7912658


    ABCB4 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ABCB4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ABCB4 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR003439 ABC_transporter-like
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR017940 ABC_transporter_type1
     IPR011527 ABC_transptrTM_dom_typ1

    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


    Function
    for ABCB4 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0008559xenobiotic-transporting ATPase activity IEA--
    GO:0042626ATPase activity, coupled to transmembrane movement of substances IBA--


    ABCB4 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Abcb4tm1Bor for ABCB4
         8 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  tumorigenesis 

    ABCB4 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ABCB4 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    		Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)1.00
    		Fatty acid, triacylglycerol, and ketone body metabolism0.52
    		PPARA Activates Gene Expression0.74
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    3Expression of ABCB4
    		Expression of ABCB41.00
    4Hepatic ABC Transporters
    		Hepatic ABC Transporters1.00
    5Nuclear receptors in lipid metabolism and toxicity
    		Nuclear receptors in lipid metabolism and toxicity1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

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

    5/6        Reactome Pathways for ABCB4 (see all 6)
        Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Expression of ABCB4
    Metabolism
    PPARA Activates Gene Expression
    Fatty acid, triacylglycerol, and ketone body metabolism


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


    ABCB4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCB4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/15 Interacting proteins for ABCB4 (P214393 ENSP000002657234) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HAX1O001653, ENSP000003290024I2D: score=4 STRING: ENSP00000329002
    UBQLN1Q9UMX03I2D: score=5 
    RPS11P622803I2D: score=2 
    CREBBPENSP000002623674STRING: ENSP00000262367
    PPARAENSP000002627354STRING: ENSP00000262735
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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--


    ABCB4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ABCB4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABCB4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ABCB4

    10/1075 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)----

    1 DrugBank Compound for ABCB4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ColchicineColchicin (see all 3)64-86-8transporterinducer7890890

    10/28 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ABCB4 / MDR3 

    Transcripts
    for ABCB4 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section
    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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    Additional cDNA 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:

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

    GeneLoc Exon Structure


    Expression
    for ABCB4 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABCB4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCACGCATCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ABCB4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleCumulus CellsOvary
    OvaryPrimary FollicleGranulosa CellsOvary
    PancreasIslets of LangerhansMature Beta CellsPancreas
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)

    See ABCB4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCB4

    SOURCE GeneReport for Unigene cluster: Hs.654403
        SABiosciences Expression via Pathway-Focused 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

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    Orthologs
    for ABCB4 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCB4 gene from 8/30 species (see all 30)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves F1NKZ1_CHICK6
    E1BS63_CHICK6
    		 Uncharacterized protein
    ATP-binding cassette, sub-family B (MDR/TAP), memb...
    		 72(a)
    70(a)
    		 many ↔ many
    many ↔ many
    		 2(20603247-20642896)
    2(20652786-20686087)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    ABCB116
    		 --
    		 69(a)
    53(a)
    		 1 ↔ many
    possible ortholog
    		 6(19286963-19334220)
    1(245243036-245267304)
    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...
    		 64(a)
    		 1 → many
    		 16(30856980-30886580)
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG102263
    Mdr491    		 multidrug transporter3
    Multi drug resistance 491    		 64(a)
    (best of 4)3
    50.79(n)1
    44.64(a)1    		   65A103
    364281  NM_079000.31  NP_523724.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea pgp-23 abc transporter 46(a)
    (best of 10)    		   I(5897001-5903773)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ABCB41 ABC transporter B family member 4 50.95(n)
    43.86(a)    		   819314  NM_130268.3  NP_182223.1 
    rice
    (Oryza sativa)    		 Liliopsida Os01g06957001 hypothetical protein 51.21(n)
    44.14(a)    		   4323895  NM_001050497.1  NP_001043962.1 


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

    Paralogs
    for ABCB4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCB4 gene
    ABCB12  ABCB112  ABCB52  
    18/40 SIMAP similar genes for ABCB4 using alignment to 33 protein entries:     MDR3_HUMAN (see all proteins) (see all similar genes):
    MDR3    MDR1    TAP2    ABCB1    DKFZp547O175    ABCB5
    LOC402251    ABCB11    TAP2-G    ABCB9    ABCC8    TAP1
    ABCC5    ABCB10    NG-TRA    ABCC9    ABCB8    ABCC12

    ABCB4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ABCB4
    PGOHUM00000246115


    Genomic Variants
    for ABCB4 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1324 NCBI SNPs in ABCB4 are shown (see all 1324)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs455756361,2
    		C,F,pathogenic86392357(-) ACACCG/AACTGT 6 /Q /R mis18Minor allele frequency- A:0.01NS NA EU 6065
    rs725527781,2
    		Cpathogenic86407909(-) TGGATC/TCACTC 6 S F mis11Minor allele frequency- T:0.00NA 4548
    rs582385591,2
    		C,F,pathogenic86413786(+) CCGCGT/CATTGA 6 /T /A mis117Minor allele frequency- C:0.01MN WA EA NA EU 8586
    rs725527801,2
    		Cpathogenic86413879(+) CTGTCA/GACCAG 6 R * stg10--------
    rs15260891,2
    		C,F,--86362541(+) AATTTA/GTTTTT 3 -- ds50017Minor allele frequency- G:0.01EA NA NS 206
    rs455496411,2
    		C,F,--86363200(-) CATTTT/CCAAAT 3 -- int19Minor allele frequency- C:0.18NS CSA WA NA 424
    rs456139411,2
    		C,F,--86363356(-) TACTTA/CTGAAT 3 -- int16Minor allele frequency- C:0.04NS WA 294
    rs455656391,2
    		C,F,--86363451(-) AAAGCT/CGCACA 3 -- int15Minor allele frequency- C:0.01NS 176
    rs455377311,2
    		C,F,--86363468(-) AAAGCA/GTTCAA 3 -- int16Minor allele frequency- G:0.02NS NA 298
    rs454372951,2
    		C,F,--86363761(-) TGCAAC/ACTCTG 3 -- int18Minor allele frequency- A:0.11NS CSA NA 280

    HapMap Linkage Disequilibrium report for ABCB4 (87031013 - 87109751 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ABCB4: --
    Human Gene Mutation Database (HGMD): ABCB4

    Locus Specific Mutation Databases (LSDB): ABCB4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCB4
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCB4

    Disorders / Diseases
    for ABCB4 gene

    (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.)
    About This Section
    ABCB4 for disorders           About GeneDecksing

    OMIM gene information: 171060   
    OMIM disorders: 602347  147480  600803  
    UniProtKB/Swiss-Prot: MDR3_HUMAN, P21439
  • Defects in ABCB4 are the cause of progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347].
    • PFIC3 is an autosomal recessive liver disorder presenting with early onset cholestasis that progresses to cirrhosis
    and liver failure before adulthood. It is characterized by elevated serum gamma-glutamyltransferase levels
  • Defects in ABCB4 are a cause of cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]. A multifactorial
    • liver disorder of pregnancy. It presents during the second or, more commonly, the third trimestre of pregnancy with
    intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal
    biliary transport from the liver into the small intestine. ICP3 causes fetal distress, spontaneous premature delivery
    and intrauterine death. ICP3 patients have spontaneous and progressive disappearance of cholestasis after delivery
  • Defects in ABCB4 are a cause of gallbladder disease type 1 (GBD1) [MIM:600803]. It is 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

    20/45 diseases for ABCB4 (see all 45):    About MalaCards
    cholestasis, progressive familial intrahepatic 3    cholestasis    intrahepatic cholestasis    sclerosing cholangitis
    primary sclerosing cholangitis    cholangitis    intrahepatic cholestasis of pregnancy    alagille syndrome
    primary biliary cirrhosis    gallbladder disease 1    cholelithiasis    biliary atresia
    digestive diseases    lymphocytic leukemia    choledocholithiasis    prolymphocytic leukemia
    gallbladder disease    coronary heart disease    peripheral neuropathy    chronic lymphocytic leukemia

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

    10/32 Novoseek 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

    Publications
    for ABCB4 gene

    (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)
    About This Section

    PubMed articles for ABCB4 gene, integrated from 9 sources (see all 200):
    (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. (2004)
    2. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. (PubMed id 11313316)1, 2, 3, 9 Rosmorduc O....Poupon R. (2001)
    3. ABCB4 gene mutation-associated cholelithiasis in adults. (PubMed id 12891548)1, 2, 4 Rosmorduc O....Poupon R. (2003)
    4. 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. (1987)
    5. 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. (2004)
    6. 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, 9 Lang C.... Pauli-Magnus C. (2007)
    7. Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). (PubMed id 16763017)1, 2, 9 Lang T.... Kerb R. (2006)
    8. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. (PubMed id 10767346)1, 2, 9 Dixon P.H.... Williamson C. (2000)
    9. Characterization of the promoter region of the human MDR3 P- glycoprotein gene. (PubMed id 7893760)1, 2, 9 Smit J.J....Borst P. (1995)
    10. Structure of the human MDR3 gene and physical mapping of the human MDR locus. (PubMed id 2002063)1, 2, 9 Lincke C.R.... Borst P. (1991)

    External Searches for ABCB4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ABCB4 gene

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

    Other Databases showing ABCB4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ABCB4 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABCB4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCB4
    NIEHS-SNPshttp://egp.gs.washington.edu/data/abcb4/
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=P21439

    Intellectual Property
    for ABCB4 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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