Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ABCG2 contributors: mct/shn - updated : 01-05-2011
HGNC name ATP-binding cassette, sub-family G (WHITE), member 2
HGNC id 74
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a single ATP binding domain at the terminus
  • a single terminal set of 6 transmembrane segment
  • a cytosolic nucleotide-binding domain fused to a transmembrane (TM) domain
  • an ABC transporter domain
  • a large extracellular loop ECL3 that constitutes a porphyrin-binding domain, which strongly interacts with heme, hemin
    • mono polymer homomer , monomer , dimer , octamer
    HOMOLOGY
    interspecies ortholog to Abcg2, Mus musculus
    ortholog to Abcg2, Rattus norvegicus
    ortholog to ABCG2, Pa troglodytes
    Homologene
    FAMILY
  • superfamily of ATP-binding cassette (ABC) transporters
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,lysosome
    text
  • sorted to the plasma membrane and then degraded via the lysosomal pathway
  • sorted to the plasma membrane and then degraded via the lysosomal pathway expressed at later stages of spermatogenesis
  • located at acrosome
  • located in the brush border membrane of kidney proximal tubule cells
    • basic FUNCTION
  • half ABC transporter traffic ATPase, involved in transport of specific molecules into or out the placenta
  • xenobiotic transporter, multidrug resistance of breast cell(daunorubicin, rhodamine)
  • confers resistance to the anticancer drug mitoxantrone in breast cancer cell lines
  • playing a physiolo)gic roles in protection of primitive stem cell populations
  • functions as a dimer, but do not exclude functional higher order oligomers
  • involved in the efflux of various anticancer compounds such as mitoxantrone, doxorubicin and topoisomerase I inhibitor
  • might play a significant role in maintaining neural stem cells in an undifferentiated state and in protecting this stem cells from xenobiotics or other toxic substances
  • transporter restricting absorption and enhancing excretion of many compounds including anticancer drugs, and may be important in renal drug excretion
  • playing an important role in clinical drug resistance
  • may serve to mediate cholesterol removal
  • may play a hitherto unrecognized survival role in the placenta, protecting the trophoblast against cytokine-induced apoptosis and possibly other extrinsic activators via modulation of ceramide signaling
  • confers resistance to cancer cells by mediating the ATP-dependent outward efflux of chemotherapeutic compounds
  • urate efflux transporter, mediating renal urate secretion
  • having functional activity leading to drug efflux
  • role of ABCG2 in stem cell regulation and protection against hypoxia
  • exports heme, and binds porphyrins, preferably the metal-chelated forms, to its large extracellular domain ECL3
  • may protect corneal epithelial progenitor SP cells against oxidative stress induced by toxins and hypoxia
  • potential important role in positively regulating skeletal muscle regeneration
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • monomer or homodimer, disulfide-linked
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • STAT5A plays an important role in ABCG2 expression during lactation
    • cell & other
    REGULATION
    Other regulated by membrane cholesterol (regulation of the activity of ABCG2 during processing or in membrane micro-domain interactions)
    strongly induced in the mammary gland of mice, cows and humans during lactation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in drug resistant cell lines and in glioblastoma
    tumoral       loss of function
    in renal carcinoma by DNA methylation-dependent formation of a repressor complex in the CpG island
    constitutional     --low  
    decreased placental expression may result in reduced viability and hence functional deficit, contributing to the fetal growth restriction phenotype
    tumoral     --over  
    in diffuse large B-cell lymphoma with significantly shorter overall survival
    Susceptibility
  • to resistance to chemotherapy
  • to gout
    • Variant & Polymorphism SNP , other
  • SNPs altering transport functions of ABCG2 transporter and the response/metabolism of chemotherapy compounds that act as substrates for ABCG2
  • mutation Q141K encoded by the common SNP rs2231142 resulted in 53p100 reduced urate transport rates compared to wild-type and in gout
  • genetic variants significantly associated with uric acid levels
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    control of proteasomal degradation of ABCG2 would provide a novel approach in cancer chemotherapy to circumvent multidrug resistance of human cancers
    cancerhead and neck 
    targeting ABCG2 and Hh signaling may have therapeutic value in overcoming chemoresistance indiffuse large B-cell lymphoma (DLBCL)
    ANIMAL & CELL MODELS
  • cells expressing Abcg2 increased upon injury and that muscle regeneration was impaired in Abcg2-null mice, resulting in fewer centrally nucleated myofibers, reduced myofiber size, and fewer satellite cells