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FLASH GENE
Symbol ABCB11 contributors: mct/npt - updated : 26-05-2016
HGNC name ATP-binding cassette, sub-family B (MDR/TAP), member 11
HGNC id 42
Corresponding disease
PFIC2 cholestasis progressive familial (severe) intrahepatic 2
Location 2q24.1      Physical location : 169.779.448 - 169.887.833
Synonym name
  • bile salt export pump
  • sister p-glycoprotein
  • ABC member 16, MDR/TAP subfamily
    • Synonym symbol(s) ABC16, PGY4, SPGP, BSEP, PFIC-2, BRIC2
    DNA
    TYPE functioning gene
    STRUCTURE 108.39 kb     28 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    text structure a farnesoid X responsive element (FXRE) activated by the bile salt
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 4775 - 1321 - Strautnieks (1998)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • two ATP binding
  • two transmembrane domains (2x6 segments)
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Abcb11
    Homologene
    FAMILY
  • ATP binding cassette superfamily
  • multidrug resistance exporter subfamily
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text canalicular microvilli and subcanalicular vesicles
    basic FUNCTION
  • high-affinity bile salt transporter involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes
  • G6PC2 may underlie variation in fasting glucose, though it is possible that ABCB11, which is expressed primarily in liver, may also contribute to such variation
  • membrane cholesterol content is a critical determinant of ABCB11/ABCC2 transport activity, providing an explanation for the etiology of ATP8B1 disease (Paulusma 2009)
  • mediates the secretion of numerous conjugated bile salts into the bile canaliculus (Kim 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text bile acid transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • ATP
    • protein
  • pericanalicular calcium signaling mediated by ITPR2 plays an important role in maintaining bile salt secretion through posttranslational regulation of ABCB11, suggesting that loss or redistribution of ITPR2 may contribute to the pathophysiology of intrahepatic cholestasis
    • cell & other
    REGULATION
    activated by FXR,RXRA and bile salts
    inhibited by by therapeutic drugs
    ASSOCIATED DISORDERS
    corresponding disease(s) PFIC2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    of NR1H4, NR0B2, SLC10A1 and ABCB11 was significantly up-regulated in the non-alcoholic steatohepatitis (NASH) in comparison with simple steatosis (SS) patients
    Susceptibility
  • to intrahepatic cholestasis of pregnancy (ICP)
  • to drug-induced cholestasis
    • Variant & Polymorphism other
  • V444A polymorphism is a significant risk factor for ICP(Dixon 2009)
  • polylmorphisms increasing drug-induced cholestasis (Lang 2007)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS