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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
Location 4q22.1      Physical location : 89.011.416 - 89.080.011
Synonym name
  • ABC transporter
  • ATP-binding cassette sub-family G member 2
  • ATP-binding cassette transporter G2
  • Synonym symbol(s) ABCP, WHITE2, MXR, BCRP, MXR1, ABC15, BCRP, BCRP1, BMDP, CDw338, EST157481, CD338
    DNA
    TYPE functioning gene
    STRUCTURE 68.60 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site
    text structure
  • TATA-less promoter with several Sp1 binding sites,downstream from a putative CpG island
  • a putative estrogen response element (ERE)
  • MAPPING cloned Y linked N status confirmed
    Map cen - D4S2462 - D4S1542 - ABCG2 - D4S2929 - D4S1563 - qter
    Physical map
    PTPN13 4q21.3 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) SOAT 4q22.1 sodium-dependent organic anion transporter MGC26744 4q22.1 hypothetical protein MGC26744 LOC260422 4q21.3 actin related protein 2/3 complex subunit 1A pseudogene LOC389210 4 similar to hypothetical protein LOC391676 4 similar to Synaptic glycoprotein SC2 MLLT2 4q21 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2 KLHL8 4q22.1 kelch-like 8 (Drosophila) GAPDL4 4pter-p16.2 glyceraldehyde-3-phosphate dehydrogenase-like 4 SCDR9 4q22.1 short-chain dehydrogenase/reductase 9 DHRS8 4q22.1 dehydrogenase/reductase (SDR family) member 8 NUDT9 4q21.3 nudix (nucleoside diphosphate linked moiety X)-type motif 9 SPARCL1 4q27 SPARC-like 1 (mast9, hevin) DSPP 4q21.3 dentin sialophosphoprotein DMP1 4q21.2-q21.3 dentin matrix acidic phosphoprotein LOC391677 4 similar to chromosome 7 open reading frame 17 protein; 16.7kD protein IBSP 4q21-q25 integrin-binding sialoprotein (bone sialoprotein, bone sialoprotein II) MEPE 4q21.1 matrix, extracellular phosphoglycoprotein with ASARM motif (bone) HSPCP1 4q21-q25 heat shock 90kDa protein 1, beta pseudogene 1 SPP1 4q21-q25 secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1) PKD2 4q22 polycystic kidney disease 2 (autosomal dominant) ABCG2 4q22 ATP-binding cassette, sub-family G (WHITE), member 2 DKFZp761G058 4q22.1 hypothetical protein DKFZp761G058 CEB1 4q22.1-q23 hypothetical protein DKFZp761G058 MGC14156 4q22.1 hypothetical protein MGC14156 HERC3 4q21 hect domain and RLD 3 DRLM FAM13A1 4q21 family with sequence similarity 13, member A1 LOC389211 4 similar to expressed sequence AW060714 TIGD2 4q21.3 tigger transposable element derived 2 LOC285513 4q22.1 hypothetical protein LOC285513 SNCA 4q21-q22 synuclein, alpha (non A4 component of amyloid precursor) MMRN 4q22 multimerin
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 4445 72.1 655 - 1999 9892175
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselscapillary   
    Digestivemouthtooth  highly Homo sapiens
    Nervousbraindiencephalonhypothalamus lowly
    Reproductivefemale systemplacenta  highly
    Urinarykidneytubuleconvoluted tubuleproximal tubulehighly
    Visualeyeanterior segmentcornea highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmoothvessel  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell Homo sapiens
    Nervousepithelial cell
    Reproductivesperm cell
    Visualepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text placenta, highly in neural stem/progenitor cells
  • expressed in a developmental, cell specific, fashion in the CNS
  • 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