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

ABCB11 Gene

protein-coding   GIFtS: 67
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)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 low gamma-gt familial intrahepatic cholestasis, and cholestasis, progressive familial intrahepatic 2, and among its related super-pathways are Synthesis of bile acids and bile salts and Methotrexate Pathway, Pharmacokinetics. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ABCB11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95342

  • 4/14 DME Specific Peptides for ABCB11 (O95342) (see all 14)
     GWKLTLV  QRVAIAR  AHRLSTI  KILLLDE 

    ABCB11 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABCB11 Protein Expression
    REFSEQ proteins: NP_003733.2  
    ENSEMBL proteins: 
     ENSP00000263817   ENSP00000416058  
    Reactome Protein details: O95342
    Human Recombinant Protein Products for ABCB11: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABCB11 

    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:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS9806540
    GO:0016020membrane TAS9806540
    GO:0016021integral to membrane IBA--

    ABCB11 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for ABCB11


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCB11 
    ABCB subfamily

    5/7 InterPro protein domains (see all 7):
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR017940 ABC_transporter_type1

    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


    ABCB11 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/9 molecular function terms (GO ID links to tree view) (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--
         
    ABCB11 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abcb11):
     growth/size  homeostasis/metabolism  liver/biliary system 

    ABCB11 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Abcb11tm1Wng for ABCB11

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABCB11 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ABCB11:
    hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidABCB11 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    GenScript: all cDNA clones in your preferred vector: ABCB11 (NM_003742)
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                         Customized lentivirus expression plasmids for stable overexpression of ABCB11 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB11


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ABCB11 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.87
    Bile acid and bile salt metabolism0.74
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.87
    Recycling of bile acids and salts0.35
    2Pravastatin Pathway, Pharmacokinetics
    Pravastatin Pathway, Pharmacokinetics0.47
    Rosuvastatin Pathway, Pharmacokinetics0.44
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4ABC-family proteins mediated transport
    ABC transporters0.70
    5Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics
    Statin Pathway - Generalized, Pharmacokinetics0.70

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN 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

    5/6        Reactome Pathways for ABCB11 (see all 6)
        Bile acid and bile salt metabolism
    Metabolism
    Synthesis of bile acids and bile salts
    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


    ABCB11 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCB11

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for ABCB11 (O953423 ENSP000002638174) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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--

    ABCB11 for ontologies           About GeneDecksing



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

    ABCB11 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABCB11 (ABCBB)

    10/85 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--

    10/35 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

    10/74 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)

    Search CenterWatch for drugs/clinical trials and news about ABCB11 / ABCBB

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ABCB11:
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    Inhib. RNA
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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
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      QIAGEN 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:

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

    ABCB11 expression in normal human tissues (normalized intensities)      ABCB11 embryonic expression: see
    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 
     5/2 selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Adrenal Gland (Endocrine System)
             adrenal gland ; glandular cells   

    See ABCB11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCB11

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ABCB11: 
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              Hepatotoxicity in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCB11 gene from 8/14 species (see all 14)    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 73.94(n)
    74.6(a)
      424170  XM_003641637.1  XP_003641685.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    ABCB116
    Uncharacterized protein
    76(a)
    75(a)
    many → 1
    many → 1
    1(245243036-245267304)
    AAWZ02035589(1667-43130)
    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...
    23(a)
    1 → many
    XI(42423-46295)
    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)
    About This Section
    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

    ABCB11 for paralogs           About GeneDecksing



    (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) 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

    10/2673 SNPs in ABCB11 are shown (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
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/48 diseases for ABCB11 (see all 48):    About MalaCards
    low gamma-gt familial intrahepatic cholestasis    cholestasis, progressive familial intrahepatic 2    abcb11-related intrahepatic cholestasis    cholestasis
    intrahepatic cholestasis    benign recurrent intrahepatic cholestasis    intrahepatic cholestasis of pregnancy    liver disease
    alagille syndrome    sclerosing cholangitis    cholelithiasis    primary sclerosing cholangitis
    biliary atresia    cholangitis    mediastinitis    myelodysplastic syndromes
    primary biliary cirrhosis    jaundice    hiv type 1    vaccinia

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

    ABCB11 for disorders           About GeneDecksing

    10/32 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)
    About This Section

    PubMed articles for ABCB11 gene, integrated from 9 sources (see all 435):
    (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. (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. (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. (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. (2006)
    5. Polymorphic variants in the human bile salt export pu mp (BSEP; ABCB11): functional characterization and interindividual variability. (PubMed id 20010382)1, 4, 9 Ho R.H....Kim R.B. (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. (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. (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. (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. (2002)
    10. A bivariate genome-wide approach to metabolic syndrom e: STAMPEED consortium. (PubMed id 21386085)1, 4 Kraja A.T....Borecki I.B. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8647 HGNC: 42 AceView: ABCB11 Ensembl:ENSG00000073734 euGenes: HUgn8647
    ECgene: ABCB11 Kegg: 8647 H-InvDB: ABCB11

    (According to HUGE)
    About This Section
      --

    (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 ABCB11 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCB11
    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.)
    About This Section
    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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