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FLASH GENE
Symbol ABCC2 contributors: mct - updated : 13-03-2009
HGNC name ATP-binding cassette, sub-family C (CFTR/MRP), member 2
HGNC id 53
DNA
TYPE functioning gene
STRUCTURE 69.20 kb     32 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure ARE (antioxidant-response element) in the promoter
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
32 - 5051 174.1 1545 - 2008 19038257
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cells
SystemCellPubmedSpeciesStageRna symbol
Digestivehepatocyte Homo sapiens
cell lineage
cell lines hepatocellular carcinoma cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two tandemly repeated polytopic membrane-spanning domains (MSDs) typical of ABC transporters
  • a third NH(2)-terminal MSD
  • two ATP binding cassette (nucleotide binding fold) each containing three highly conserved motifs in ABC transporter Walker A, B, C
  • three transmembrane (3TM) domains (3 x 6 segments), with alternative splicing
  • the transmembrane domains involved in substrate recognition/transport
  • a seven-amino-acid extension at its C-terminus with the last three amino acids (TKF) comprising a PDZ-interacting motif, a class I PDZ-binding motif STKF
  • cytoplasmic loop 3 with a lysine-rich element that is essential for apical targeting, is important for interaction with both the glutathione and glucuronide conjugates
    • HOMOLOGY
    interspecies ortholog to rattus Abcc2
    homolog to murine Abcc2
    Homologene
    FAMILY
  • ABC transporter superfamily
  • ABCC family
  • conjugate transporter subfamily
    • CATEGORY regulatory , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text canalicular apical membrane of hepatocyte and kidney proximal tubule
    basic FUNCTION
  • ABC transporter, traffic ATPase exporting anionic conjugates across the apical membrane of polarized cells
  • excretes amphiphilic organic anions into bile
  • glutathione (GSH) conjugate (GS-x) pump or canalicular multispecific anion transporter, cellular cisplatin transporter
  • having specific biologic functions in epidermal lipid reorganization during terminal keratinocyte differentiation
  • localized at the canalicular membrane of hepatocytes and playing an important role in bile formation and detoxification
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text biliary transport
    PATHWAY
    metabolism drug
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds NFE2L2 (regulation of ABCC2 expression via the ARE element located at the proximal region of the promoter in response to exposure to xenobiotics)
  • can bind to SLC9A3R1, a PDZ protein that cross-links membrane proteins to actin filaments
    • cell & other
  • interaction with cholesterol (similarly affects the transport function of ABCC2 by interacting with its putative substrate-binding site and transport substrates)
    • REGULATION
    Other inverse of ABCC3
    ASSOCIATED DISORDERS
    corresponding disease(s) DJS
    Susceptibility
  • to nonalcoholic fatty liver disease
  • to intrahepatic cholestasis of pregnancy (ICP)
    • Variant & Polymorphism other
  • variant for rs17222723 and rs8187710 increasing the risk of nonalcoholic fatty liver disease
  • association between the rs3740066 in exon 28 of ABCC2 gene and ICP
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS