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

ABCB11 Gene

protein-coding   GIFtS: 66
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)
 Explore 60 diseases affiliated with
ABCB11 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ABCB11    

Aliases
for ABCB11 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 111 2     Progressive Familial Intrahepatic Cholestasis 21 2
BSEP1 2 3 5     ATP-Binding Cassette Sub-Family B Member 112 3
PFIC21 2 5     BRIC22 5
SPGP1 2 5     ABC Member 16, MDR/TAP Subfamily2
ABC161 2     Sister P-Glycoprotein2
PFIC-21 2     EC 3.6.38
PGY41 2     EC 3.6.3.448
Bile Salt Export Pump1 2     

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


Summaries
for ABCB11 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 ABCB11:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
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 plasmid: ABCB11 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-,PATCHES 169,787,944-169,801,440     

Proteins
for ABCB11 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003733.2  
    ENSEMBL proteins: 
     ENSP00000263817   ENSP00000416058  
    Reactome Protein details: O95342
    Human Recombinant Protein Products: 
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    Uscn Proteins for ABCB11

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IBA--
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS9806540
    GO:0016020membrane TAS9806540


    ABCB11 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ABCB11

    Protein Domains /
    Families
    for ABCB11 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ABCB11 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 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


    Function
    for ABCB11 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: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABCB11
    1 QIAGEN miScript miRNA Assays for microRNA that regulate ABCB11:
    hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmid: ABCB11 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCB11 (see all 7)
    OriGene shRNA RFP: ABCB11
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCB11

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCB11 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCB11 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: ABCB11 (NM_003742)
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    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS9806540
    GO:0005524ATP binding IEA--
    GO:0008554sodium-exporting ATPase activity, phosphorylative mechanism TAS9806540
    GO:0015126canalicular bile acid transmembrane transporter activity IBA--
    GO:0015432bile acid-exporting ATPase activity TAS9806540


    ABCB11 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Abcb11tm1Wng for ABCB11
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Abcb11):
     growth/size  homeostasis/metabolism  liver/biliary system 

    ABCB11 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ABCB11 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 - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis of bile acids and bile salts
    		Synthesis of bile acids and bile salts1.00
    		Bile acid and bile salt metabolism0.70
    		Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.79
    		Recycling of bile acids and salts0.11
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    3Pravastatin Pathway, Pharmacokinetics
    		Pravastatin Pathway, Pharmacokinetics1.00
    		Rosuvastatin Pathway, Pharmacokinetics0.44
    4Drug Induction of Bile Acid Pathway
    		Drug Induction of Bile Acid Pathway1.00
    5Hepatic ABC Transporters
    		Hepatic ABC Transporters1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

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

    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



    Drugs & Compounds
    for ABCB11 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

    ABCB11 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ABCB11

    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--

    10/32 DrugBank Compounds for ABCB11 (see all 32)    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 3)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 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 

    Transcripts
    for ABCB11 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ABCB11:
    hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmid: ABCB11 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCB11 (see all 7)
    OriGene shRNA RFP: ABCB11
    OriGene siRNA: ABCB11
    QIAGEN FlexiTube/FlexiPlate 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)
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    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ABCB11
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCB11

    Additional cDNA 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 BV198828 CD617439 BM312770 CB161905 
    BX494965 AF091582 BV198883 BM312461 CD617437 AA682405 BX110920 BX494964 
    AI052627 AA345915 AF136523 CB161524 R91010 

    GeneLoc Exon Structure


    Expression
    for ABCB11 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

    ABCB11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCTTTCCAG

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

    ABCB11 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    Orthologs
    for ABCB11 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 ABCB11 gene from 7/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    ABCB116
    		 --
    		 76(a)
    75(a)
    		 possible ortholog
    1 ↔ 1
    		 1(245243036-245267304)
    AAWZ02035589(1785-43051)
    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)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons PGP96
    PGP76
    (see all 21)    		 ABC transporter B family member 7
    (see all 21)    		 40(a)
    39(a)
    (see all 21)    		 many ↔ many
    many ↔ many
    (see all 21)    		 4(10022205-10027415)
    5(18877192-18882347)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 21)    		 ABC transporter, ATP-binding protein, putative, ex...
    ABC transporter, ATP-binding protein, putative, ex...
    (see all 21)    		 40(a)
    39(a)
    (see all 21)    		 possible ortholog
    many ↔ many
    (see all 21)    		 5(2168955-2171485)
    4(32486806-32493209)


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

    Paralogs
    for ABCB11 gene

    (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    ABCB1    ABCB5    TAP1    NG-TRA
    ABCB9    ABCB10    TAP2    ABCB6    ABCB8    ABCG2
    DKFZp434I2115    TAP2-G    ABCB7

    ABCB11 for paralogs           About GeneDecksing



    Genomic Variants
    for ABCB11 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

    10/2160 NCBI SNPs in ABCB11 are shown (see all 2160)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs725493971,2
    		Cpathogenic169788931(+) TTGTCA/GGTCCA 2 R * stg10--------
    rs725494011,2
    		Cpathogenic169826641(+) ATTTCA/GGATGA 2 R * stg10--------
    rs115683721,2
    		C,H,pathogenic169847329(-) TGGTGA/GGAAAA 2 E G mis1 trp35Minor allele frequency- G:0.00NS EA 552
    rs743978071,2
    		F,--161729506(+) TATGTG/CGTGTC 1 -- int11Minor allele frequency- C:0.06WA 118
    rs747594261,2
    		F,--161729520(+) ATTAAG/ATTAGG 1 -- int11Minor allele frequency- A:0.06WA 118
    rs788526201,2
    		C--161729564(+) CAGAAA/TTATTA 1 -- int10--------
    rs753791511,2
    		F,--161730086(+) TGTTGC/ACTGAG 1 -- int11Minor allele frequency- A:0.02EA 120
    rs1474983551,2
    		--169778982(+) GTCTCC/TTCCTT 1 -- ds50010--------
    rs792603201,2
    		C,F,--169779069(+) CCCAAC/TTAACA 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs739727091,2
    		C,--169779094(+) TTTCTC/TTCATC 1 -- ds50012Minor allele frequency- T:0.18WA 120

    HapMap Linkage Disequilibrium report for ABCB11 (169779448 - 169887833 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ABCB11
         2 Indels: 40386 61855
    Human Gene Mutation Database (HGMD): ABCB11

    Locus Specific Mutation Databases (LSDB): ABCB11

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    Disorders / Diseases
    for ABCB11 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
    ABCB11 for disorders           About GeneDecksing

    OMIM gene information: 603201   
    OMIM disorders: 601847  605479  
    UniProtKB/Swiss-Prot: ABCBB_HUMAN, O95342
  • Defects in ABCB11 are the cause of progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847].
    • PFIC2 is an inherited liver disease of childhood which is characterized by cholestasis and normal serum
    gamma-glutamyltransferase activity. Defects in ABCB11 are also found in cases of chronic intrahepatic cholestasis
    without obvious familial history of chronic liver disease
  • Defects in ABCB11 are the cause of benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]. BRIC
    • is 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 and patients are asymptomatic between
    episodes, both clinically and biochemically

    20/60 diseases for ABCB11 (see all 60):    About MalaCards
    intrahepatic cholestasis    low gamma-gt familial intrahepatic cholestasis    cholestasis    cholestasis, progressive familial intrahepatic 2
    liver disease    colchicine resistance    benign recurrent intrahepatic cholestasis    dna topoisomerase ii
    sclerosing cholangitis    primary sclerosing cholangitis    non-hodgkin lymphoma    intrahepatic cholestasis of pregnancy
    primary biliary cirrhosis    b-cell lymphomas    cholangitis    biliary atresia
    cystic fibrosis    hodgkin's lymphoma    coronary heart disease    alagille syndrome

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

    10/32 Novoseek 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
    Low Gamma-GT Familial Intrahepatic Cholestasis

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

    Export disorders for ABCB11 gene to outside databases

    Publications
    for ABCB11 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 ABCB11 gene, integrated from 9 sources (see all 426):
    (articles sorted by number of sources associating them with ABCB11)    		    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. 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)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). (PubMed id 16763017)1, 2 Lang T.... Kerb R. (2006)
    8. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. (PubMed id 15300568)1, 2 van Mil S.W.C.... Klomp L.W.J. (2004)
    9. Association of single nucleotide polymorphisms of the bile salt export pump gene with intrahepatic cholestasis of pregnancy. (PubMed id 12825874)1, 4 Eloranta M.L....Heinonen S. (2003)
    10. Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population. (PubMed id 11829140)1, 2 Saito S.... Nakamura Y. (2002)

    External Searches for ABCB11 gene

    (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)

    Genome Databases showing ABCB11 gene

    (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

    Other Databases showing ABCB11 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ABCB11 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 ABCB11 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCB11
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=O95342

    Intellectual Property
    for ABCB11 gene

    (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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