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ABCB11 Gene

protein-coding   GIFtS: 68
GCID: GC02M169743

ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 11

(Previous names: progressive familial intrahepatic cholestasis 2, bile salt...)
(Previous symbols: BSEP, PFIC2)
  See ABCB11-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 111 2     MDR/TAP Subfamily1
BSEP1 2 3 5     ABC162
PFIC21 2 5     PFIC-22
Bile Salt Export Pump1 2     PGY42
Progressive Familial Intrahepatic Cholestasis 21 2     ABC Member 16, MDR/TAP Subfamily2
ATP-Binding Cassette Sub-Family B Member 112 3     Sister P-Glycoprotein2
BRIC22 5     EC 3.6.38
SPGP2 5     EC 3.6.3.448
ABC Member 161     

External Ids:    HGNC: 421   Entrez Gene: 86472   Ensembl: ENSG000000737347   OMIM: 6032015   UniProtKB: O953423   

Export aliases for ABCB11 gene to outside databases

Previous GC identifers: GC02M167831 GC02M168321 GC02M169981 GC02M169604 GC02M169487 GC02M161675


(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 ABCB11 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. The protein
encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form
of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic
liver disease from early infancy. (provided by RefSeq, Jul 2008)

GeneCards Summary for ABCB11 Gene:
ABCB11 (ATP-binding cassette, sub-family B (MDR/TAP), member 11) is a protein-coding gene. Diseases associated with ABCB11 include benign recurrent intrahepatic cholestasis 2, and cholestasis, progressive familial intrahepatic 2. GO annotations related to this gene include transporter activity and sodium-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ABCB1.

UniProtKB/Swiss-Prot: ABCBB_HUMAN, O95342
Function: Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes

Gene Wiki entry for ABCB11 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_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCB11 gene promoter:
         Max1   USF1   Pax-2   Pax-2a   MEF-2A   Pax-2b   USF-1   FOXO4   aMEF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCB11 promoter sequence
   Search Chromatin IP Primers for ABCB11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCB11


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

Entrez Gene cytogenetic band: 2q24   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q24

ABCB11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCB11 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M169743:  view genomic region     (about GC identifiers)

Start:
169,779,448 bp from pter      End:
169,887,833 bp from pter
Size:
108,386 bases      Orientation:
minus strand

1 alternative location:
Chr2-,NW_003315909 109,566-123,061     

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ABCBB_HUMAN, O95342 (See protein sequence)
Recommended Name: Bile salt export pump  
Size: 1321 amino acids; 146407 Da
Subunit: Interacts with HAX1 (By similarity)
Secondary accessions: Q53TL2 Q9UNB2

Explore the universe of human proteins at neXtProt for ABCB11: NX_O95342

Explore proteomics data for ABCB11 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn109, Asn116, Asn122, Asn125
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ABCB11 (O95342) (see all 14)
     GWKLTLV  QRVAIAR  AHRLSTI  KILLLDE 


    See ABCB11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003733.2  
    ENSEMBL proteins: 
     ENSP00000263817   ENSP00000416058  
    Reactome Protein details: O95342

    ABCB11 Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ABCB11

     
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    ABCB11 Antibody Products:

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    Cloud-Clone Corp. ELISAs for ABCB11
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    Search eBioscience for ELISAs for ABCB11 


    (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: ABCB11
    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 O95342

    ProtoNet protein and cluster: O95342

    UniProtKB/Swiss-Prot: ABCBB_HUMAN, O95342
    Domain: Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring
    domain and an ATP binding cassette (ABC) domain
    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 ABCB11           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: ABCBB_HUMAN, O95342
    Function: Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes
    Biophysicochemical properties: Kinetic parameters: KM=30.4 uM for taurocholate; Vmax=232 pmol/min/mg enzyme for
    taurocholate transport;

         Genatlas biochemistry entry for ABCB11:
    ATP binding cassette superfamily,subfamily B (MDR/TAP) member 11,expressed in the canalicular microvilli and
    subcanicular vesicles of the hepatocytes

         Enzyme Numbers (IUBMB): EC 3.6.3.442 EC 3.6.32

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005215transporter activity TAS9806540
    GO:0005524ATP binding IEA--
    GO:0008554sodium-exporting ATPase activity, phosphorylative mechanism TAS9806540
    GO:0015126canalicular bile acid transmembrane transporter activity IBA--
         
    Find genes that share ontologies with ABCB11           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Abcb11):
     growth/size/body  homeostasis/metabolism  liver/biliary system 

    Find genes that share phenotypes with ABCB11           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Abcb11tm1Wng for ABCB11

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCB11
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ABCB11

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCB11
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCB11

    miRNA
    Products:
        
    miRTarBase miRNAs that target ABCB11:
    hsa-mir-33a-5p (MIRT006901)

    Block miRNA regulation of human, mouse, rat ABCB11 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ABCB11:
    hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidABCB11 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ABCB11
    Predesigned siRNA for gene silencing in human, mouse, rat ABCB11

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ABCB11

    Clone
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    OriGene clones in human, mouse for ABCB11 (see all 8)
    OriGene ORF clones in mouse, rat for ABCB11
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ABCB11 (NM_003742)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCB11
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCB11

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    Browse ESI BIO Cell Lines and PureStem Progenitors for ABCB11 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB11


    (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
    ABCBB_HUMAN, O95342: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    golgi apparatus3
    nucleus2
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IBA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9806540
    GO:0016020membrane TAS9806540
    GO:0016021integral component of membrane IBA--

    Find genes that share ontologies with ABCB11           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 ABCB11 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.88
    Bile acid and bile salt metabolism0.73
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.88
    Recycling of bile acids and salts0.00
    2Statin Pathway - Generalized, Pharmacokinetics
    Statin Pathway - Generalized, Pharmacokinetics0.50
    Pravastatin Pathway, Pharmacokinetics0.00
    Rosuvastatin Pathway, Pharmacokinetics0.00
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4ABC-family proteins mediated transport
    ABC transporters0.69
    5Hepatic ABC Transporters
    Hepatic ABC Transporters0.41


    Find genes that share SuperPaths with ABCB11           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ABCB11
        Hepatic ABC Transporters

    2 BioSystems Pathways for ABCB11
        Nuclear receptors in lipid metabolism and toxicity
    Drug Induction of Bile Acid Pathway

    2 Reactome Pathways for ABCB11
        Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    Recycling of bile acids and salts

    3 PharmGKB Pathways for ABCB11
        Pravastatin Pathway, Pharmacokinetics
    Rosuvastatin Pathway, Pharmacokinetics
    Statin Pathway - Generalized, Pharmacokinetics

    2 Kegg Pathways  (Kegg details for ABCB11):
        ABC transporters
    Bile secretion

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ABCB11: 
              Drug Transporters in human mouse rat
              Hepatotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ABCB11

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for ABCB11 (O953423 ENSP000002638174) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HAX1O001653, ENSP000003290024I2D: score=3 STRING: ENSP00000329002
    ALBENSP000002958974STRING: ENSP00000295897
    BAATENSP000002594074STRING: ENSP00000259407
    SLC10A1ENSP000002165404STRING: ENSP00000216540
    SLCO1A2ENSP000003059744STRING: ENSP00000305974
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006699bile acid biosynthetic process TAS--
    GO:0006810transport TAS9806540
    GO:0008206bile acid metabolic process TAS--
    GO:0015721bile acid and bile salt transport TAS--
    GO:0015722canalicular bile acid transport IBA--

    Find genes that share ontologies with ABCB11           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 ABCB11 (ABCBB)

    Selected HMDB Compounds for ABCB11 (see all 85)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acidChenodeoxycholic acid 3-glucuronide (see all 3)58814-71-4--
    1,3,12-Trihydroxycholan-24-oic acid1,3,12-Trihydroxycholan-24-oate (see all 6)63266-91-1--
    1,3,7,12-Tetrahydroxycholan-24-oic acid1,3,7,12-Tetrahydroxycholan-24-oate (see all 10)63266-89-7--
    12-Ketodeoxycholic acid12-Dehydrodeoxycholate (see all 20)5130-29-0--
    12a-Hydroxy-3-oxocholadienic acid12a-Hydroxy-3-oxo-4,6-choladien-24-oate (see all 8)13535-96-1--
    12b-Hydroxy-5b-cholanoic acid12b-Hydroxy-5b-cholanic acid (see all 9)15173-23-6--
    1b,3a,12a-Trihydroxy-5b-cholanoic acid1,3,12-trihydroxy-(5b)-Cholan-24-oate (see all 6)80434-32-8--
    1b,3a,7a-Trihydroxy-5b-cholanoic acid1 beta,3a,7a-Trihydroxy-5b-cholanoate (see all 18)99598-04-6--
    1b-Hydroxycholic acid1b,3a,7a,12a-Tetrahydroxy-5b-cholan-24-oate (see all 5)80875-94-1--
    2b,3a,7a,12a-Tetrahydroxy-5b-cholanoic acid2b,3a,7a,12a-Tetrahydroxy-5b-cholan-24-oate (see all 7)60696-60-8--

    Selected DrugBank Compounds for ABCB11 (see all 35)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Taurocholic Acid-- 81-24-3transportersubstrate inducer12404239 15297262 10607905 12399219 10692506 11248200 12235261 10617675 12518026 11557132 11343252 9545351
    GlyburideApo-Glibenclamide (see all 4)10238-21-8targetinhibitor12404239 15618715 15465654
    transporterinhibitor12404239 15618715 15465654 12404239 10648470 12739759 11557132 11343252
    CyclosporineCiclosporin (see all 4)59865-13-3transporterinhibitor12404239 10648470 12739759 11752352 10617675 11343252
    RifampinRFP (see all 3)13292-46-1transporterinhibitor12404239 10648470 12739759 11343252
    Cholic Acid-- 81-25-4transportersubstrate inhibitor inducer15297262 10607905 12235261
    Glycochenodeoxycholic Acid-- 640-79-9transportersubstrate inhibitor12404239 15297262 10648470
    Troglitazone-- 97322-87-7transporterinhibitor12739759 19688600 11557132
    Ursodeoxycholic acid(3alpha,5beta,7beta)-3,7-dihydroxycholan-24-oic acid (see all 18)128-13-2transportersubstrate inhibitor inducer15297262 10607905 11509573
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17126857 16819395
    Daunorubicin-- 20830-81-3transportersubstrate12739759 10617675

    Selected Novoseek inferred chemical compound relationships for ABCB11 gene (see all 74)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bodipy-verapamil 84 2 1681415 (1), 15308763 (1)
    vinblastine 81.1 13 10617675 (2), 15472471 (2), 9220975 (1), 1360010 (1) (see all 9)
    verapamil 77.3 14 7646552 (1), 9384669 (1), 9044851 (1), 9313931 (1) (see all 13)
    azidopine 74 1 1360010 (1)
    gf 120918 73.3 3 16940108 (1), 12384350 (1)
    tariquidar 73 6 19034106 (3), 15986399 (2)
    daunorubicin 71.6 4 10617675 (1), 10500783 (1), 2242381 (1), 8842048 (1)
    rhodamine 123 71.6 5 7646552 (1), 7504150 (1), 10617675 (1), 7929531 (1) (see all 5)
    flupenthixol 69.8 1 11055337 (1)
    colchicine 67.9 4 9220975 (1), 15049699 (1), 7909160 (1), 9551613 (1)



    Find genes that share compounds with ABCB11           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 ABCB11 gene: 
    NM_003742.2  

    Unigene Cluster for ABCB11:

    ATP-binding cassette, sub-family B (MDR/TAP), member 11
    Hs.658439  [show with all ESTs]
    Unigene Representative Sequence: AF091582
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263817(uc010zda.1 uc010zdb.1 uc002ueo.1) ENST00000439188
    ENST00000478354
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ABCB11 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ABCB11:
    hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidABCB11 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ABCB11
    Predesigned siRNA for gene silencing in human, mouse, rat ABCB11
    Clone
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    GenScript: all cDNA clones in your preferred vector: ABCB11 (NM_003742)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCB11
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCB11
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ABCB11
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABCB11
      QuantiTect SYBR Green Assays in human, mouse, rat ABCB11
      QuantiFast Probe-based Assays in human, mouse, rat ABCB11

    Additional mRNA sequence: 

    AB012959.1 AF091582.1 AF136523.1 AK302540.1 AK303050.1 

    3 DOTS entries:

    DT.92072028  DT.91751051  DT.401532 

    21 AceView cDNA sequences:

    AA718934 NM_003742 AB012959 AI247467 BX494965 BV198828 BX494964 CD617439 
    BV198883 AF091582 AA682405 CD617437 BM312461 BX110920 BM312770 CB161905 
    CB161524 AF136523 AA345915 AI052627 R91010 

    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)
    About This Section

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    ABCB11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTTTCCAG
    ABCB11 Expression
    About this image


    ABCB11 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    ABCB11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCB11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.658439

    UniProtKB/Swiss-Prot: ABCBB_HUMAN, O95342
    Tissue specificity: Expressed predominantly, if not exclusively in the liver, where it was further localized to
    the canalicular microvilli and to subcanalicular vesicles of the hepatocytes by 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 ABCB11 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcb111 , 5 ATP-binding cassette, sub-family B (MDR/TAP), member more1, 5 83.14(n)1
    82.03(a)1
      2 (39.69 cM)5
    274131  NM_021022.31  NP_066302.21 
     692382825 
    chicken
    (Gallus gallus)
    Aves ABCB111 ATP-binding cassette, sub-family B (MDR/TAP), member more 74.29(n)
    74.92(a)
      424170  XM_004942758.1  XP_004942815.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    76(a)
    74(a)
    1 ↔ many
    1 ↔ many
    1(245243036-245267304)
    AAWZ02035589(1667-43130)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004895791 bile salt export pump-like 70.71(n)
    72.99(a)
      100489579  XM_004917707.1  XP_004917764.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.287002 Transcribed sequence with weak similarity to protein more 76.33(n)    57049999 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG102263 multidrug transporter 61(a)
    (best of 3)
      65A10   --
    worm
    (Caenorhabditis elegans)
    Secernentea pgp-13 multidrug resistance protein 39(a)
    (best of 10)
      IV(12592000-12599340)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes STE66
    Plasma membrane ATP-binding cassette (ABC) transpo...
    24(a)
    1 → many
    XI(42423-46295) YKL209C
    Alicante grape
    (Vitis vinifera)
    eudicotyledons CB923000.12   -- 70.81(n)    CB923000.1 


    ENSEMBL Gene Tree for ABCB11 (if available)
    TreeFam Gene Tree for ABCB11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCB11 gene
    ABCB12  ABCB42  ABCB52  
    15 SIMAP similar genes for ABCB11 using alignment to 3 protein entries:     ABCBB_HUMAN (see all proteins):
    ABCB4    MDR1    ABCB5    ABCB1    TAP1    NG-TRA
    ABCB9    ABCB10    TAP2    ABCB6    ABCB8    ABCG2
    DKFZp434I2115    TAP2-G    ABCB7

    Find genes that share paralogs with ABCB11           About GenesLikeMe



    (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 ABCB11 (see all 2673)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0133354
    Cholestasis, progressive familial intrahepatic, 2 (PFIC2)4--see VAR_0133352 D G mis40--------
    VAR_0133374
    Cholestasis, progressive familial intrahepatic, 2 (PFIC2)4--see VAR_0133372 G D mis40--------
    VAR_0303904
    Cholestasis, progressive familial intrahepatic, 2 (PFIC2)4--see VAR_0303902 C S mis40--------
    VAR_0102714
    Cholestasis, progressive familial intrahepatic, 2 (PFIC2)4--see VAR_0102712 E G mis40--------
    VAR_0133394
    Cholestasis, progressive familial intrahepatic, 2 (PFIC2)4--see VAR_0133392 R Q mis40--------
    VAR_0303954
    Cholestasis, benign recurrent intrahepatic, 2 (BRIC2)4--see VAR_0303952 A P mis40--------
    VAR_0133344
    Cholestasis, progressive familial intrahepatic, 2 (PFIC2)4--see VAR_0133342 K E mis40--------
    VAR_0303864
    Cholestasis, benign recurrent intrahepatic, 2 (BRIC2)4--see VAR_0303862 E G mis40--------
    VAR_0133384
    Cholestasis, progressive familial intrahepatic, 2 (PFIC2)4--see VAR_0133382 R C mis40--------
    VAR_0133324
    Cholestasis, progressive familial intrahepatic, 2 (PFIC2)4--see VAR_0133322 V L mis40--------

    HapMap Linkage Disequilibrium report for ABCB11 (169779448 - 169887833 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ABCB11:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721109CNV Deletion23290073
    esv1679312CNV Insertion17803354
    esv1429755CNV Insertion17803354
    nsv875383CNV Loss21882294
    nsv459943CNV Loss19166990
    esv8790CNV Loss19470904
    nsv875382CNV Loss21882294
    nsv875384CNV Gain21882294

    Human Gene Mutation Database (HGMD): ABCB11
    Locus Specific Mutation Databases (LSDB): ABCB11

    Site Specific Mutation Identification with PCR Assays
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    (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: 603201   
    OMIM disorders: 601847  605479  
    UniProtKB/Swiss-Prot: ABCBB_HUMAN, O95342
  • Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]: 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, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]: A disorder characterized by
    intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum
    bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to
    months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both
    clinically and biochemically. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 12 diseases for ABCB11:    
    About MalaCards
    benign recurrent intrahepatic cholestasis 2    cholestasis, progressive familial intrahepatic 2    abcb11-related intrahepatic cholestasis    cholestasis
    intrahepatic cholestasis of pregnancy    intrahepatic cholestasis    benign recurrent intrahepatic cholestasis    low gamma-gt familial intrahepatic cholestasis
    cholestasis, intrahepatic, of pregnancy, 1    liver disease    colchicine resistance    lung cancer

    3 diseases from the University of Copenhagen DISEASES database for ABCB11:
    Cholestasis     Liver disease     Cholelithiasis

    Find genes that share disorders with ABCB11           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ABCB11 gene (see all 32)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pfic2 92.7 24 16039748 (4), 11172067 (3), 20414253 (2), 9806540 (2) (see all 11)
    pfic3 88.3 4 19753442 (1), 20414253 (1), 17241866 (1)
    cholestasis intrahepatic 84.9 38 16039748 (3), 11172067 (3), 19642168 (2), 11815775 (2) (see all 18)
    byler disease 83.1 11 20414253 (2), 16819395 (1), 19133130 (1), 17241866 (1) (see all 5)
    colchicine resistance 73.6 2 15049699 (1), 7909160 (1)
    cholestasis, benign recurrent intrahepatic 71.9 1 20422495 (1)
    cholestasis 69.7 32 17264802 (4), 19642168 (2), 17108234 (1), 12739759 (1) (see all 14)
    cancer 34.7 19 17640301 (2), 16875827 (1), 12678765 (1), 1681415 (1) (see all 17)
    liver diseases 34.2 4 12536246 (1), 14699511 (1), 18509747 (1), 20010382 (1)
    leukemia 27.3 2 10456672 (1), 7907642 (1)

    GeneTests: ABCB11
    GeneReviews: ABCB11
    Genetic Association Database (GAD): ABCB11
    Human Genome Epidemiology (HuGE) Navigator: ABCB11 (37 documents)

    Export disorders for ABCB11 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 ABCB11 gene, integrated from 10 sources (see all 442):
    (articles sorted by number of sources associating them with ABCB11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. (PubMed id 9806540)1, 2, 3, 9 Strautnieks S.S.... Thompson R.J. (Nat. Genet. 1998)
    4. Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). (PubMed id 16763017)1, 2, 4 Lang T.... Kerb R. (Drug Metab. Dispos. 2006)
    5. Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability. (PubMed id 20010382)1, 4, 9 Ho R.H....Kim R.B. (Pharmacogenet. Genomics 2010)
    6. Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. (PubMed id 16039748)1, 2, 9 Noe J.... Pauli-Magnus C. (J. Hepatol. 2005)
    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. 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)
    9. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. (PubMed id 11815775)1, 2, 9 Chen H.-L.... Chang M.-H. (J. Pediatr. 2002)
    10. A common polymorphism in the ABCB11 gene is associated with advanced fibrosis in hepatitis C but not in non-alcoholic fatty liver disease. (PubMed id 20883210)1, 4 Iwata R....Geier A. (Clin. Sci. 2011)

    (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: 8647 HGNC: 42 AceView: ABCB11 Ensembl:ENSG00000073734 euGenes: HUgn8647
    ECgene: ABCB11 Kegg: 8647 H-InvDB: ABCB11

    (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 ABCB11 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ABCB11[genesymbol]
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=O95342

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCB11 gene:
    Search GeneIP for patents involving ABCB11

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



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