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ABCG2 Gene

protein-coding   GIFtS: 72
GCID: GC04M089011

ATP-Binding Cassette, Sub-Family G (WHITE), Member 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP-Binding Cassette, Sub-Family G (WHITE), Member 21 2     ABC152
ABCP2 3 5     BMDP2
BCRP2 3 5     CD3382
Breast Cancer Resistance Protein2 3     EST1574812
Mitoxantrone Resistance-Associated Protein2 3     MRX2
Placenta-Specific ATP-Binding Cassette Transporter2 3     MXR12
Urate Exporter2 3     ABC Transporter2
BCRP12 3     ATP-Binding Cassette Sub-Family G Member 22
CDw3382 3     ATP-Binding Cassette Transporter G22
MXR2 3     Multi Drug Resistance Efflux Transport ATP-Binding Cassette Sub-Family G
(WHITE) Member 22
GOUT12 5     Placenta Specific MDR Protein2
UAQTL12 5     CD338 Antigen3

External Ids:    HGNC: 741   Entrez Gene: 94292   Ensembl: ENSG000001187777   OMIM: 6037565   UniProtKB: Q9UNQ03   

Export aliases for ABCG2 gene to outside databases

Previous GC identifers: GC04M089170 GC04M089314 GC04M089471 GC04M089370 GC04M089230 GC04M084757


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ABCG2 Gene:
The membrane-associated protein encoded by this gene is included in 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 White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions
as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular
defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein
has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue.
Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Apr
2012)

GeneCards Summary for ABCG2 Gene:
ABCG2 (ATP-binding cassette, sub-family G (WHITE), member 2) is a protein-coding gene. Diseases associated with ABCG2 include persistent fetal circulation syndrome, and nonpapillary renal cell carcinoma. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances and protein homodimerization activity. An important paralog of this gene is ABCG1.

UniProtKB/Swiss-Prot: ABCG2_HUMAN, Q9UNQ0
Function: High-capacity urate exporter functioning in both renal and extrarenal urate excretion. Plays a role in
porphyrin homeostasis as it is able to mediates the export of protoporhyrin IX (PPIX) both from mitochondria to
cytosol and from cytosol to extracellular space, and cellular export of hemin, and heme. Xenobiotic transporter
that may play an important role in the exclusion of xenobiotics from the brain. Appears to play a major role in
the multidrug resistance phenotype of several cancer cell lines. Implicated in the efflux of numerous drugs and
xenobiotics: mitoxantrone, the photosensitizer pheophorbide, camptothecin, methotrexate, azidothymidine (AZT),
and the anthracyclines daunorubicin and doxorubicin

summary for ABCG2 Gene:
ABCG2 encodes a protein known as breast cancer resistance protein (BCRP). Similar to MRP1 and MDR1, BCRP is
a member of the human ABC transporter family.

Gene Wiki entry for ABCG2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCG2 gene promoter:
         Sp1   AP-1   ATF-2   HNF-1A   PPAR-gamma1   HNF-1   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ABCG2 promoter sequence
   Search Chromatin IP Primers for ABCG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCG2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q22   Ensembl cytogenetic band:  4q22.1   HGNC cytogenetic band: 4q22.1

ABCG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCG2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M089011:  view genomic region     (about GC identifiers)

Start:
89,011,416 bp from pter      End:
89,152,474 bp from pter
Size:
141,059 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ABCG2_HUMAN, Q9UNQ0 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family G member 2  
Size: 655 amino acids; 72314 Da
Subunit: Monomer under reducing conditions, the minimal functional units is a homodimer; disulfide-linked, but the
major oligomeric form in plasma membranes is a homotetramer with possibility of higher order oligomerization up
to homododecamers
Miscellaneous: When overexpressed, the transfected cells become resistant to mitoxantrone, daunorubicin and
doxorubicin
Sequence caution: Sequence=AF093771; Type=Frameshift; Positions=486, 586; Sequence=AF093772; Type=Frameshift;
Positions=386, 502, 586;
Secondary accessions: A0A1W3 A8K1T5 O95374 Q4W5I3 Q53ZQ1 Q569L4 Q5YLG4 Q86V64 Q8IX16 Q96LD6
Q96TA8 Q9BY73 Q9NUS0
Alternative splicing: 2 isoforms:  Q9UNQ0-1   Q9UNQ0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ABCG2: NX_Q9UNQ0

Explore proteomics data for ABCG2 at MOPED

Post-translational modifications: 

  • Glycosylation-deficient ABCG2 is normally expressed and functional1
  • Glycosylation2 at Asn596
  • Modification sites at PhosphoSitePlus

  • See ABCG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001244315.1  NP_004818.2  

    ENSEMBL proteins: 
     ENSP00000426917   ENSP00000237612   ENSP00000426916   ENSP00000426934  
    Reactome Protein details: Q9UNQ0

    ABCG2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ABCG2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ABCG2
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    Novus Biologicals ABCG2 Proteins
    Novus Biologicals ABCG2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABCG2

    ABCG2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ABCG2
    R&D Systems Antibodies for ABCG2
    Cell Signaling Technology (CST) Antibodies for ABCG2 
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    OriGene Custom Antibody Services for ABCG2
    Novus Biologicals ABCG2 Antibodies
    Abcam antibodies for ABCG2
    Cloud-Clone Corp. Antibodies for ABCG2
    ThermoFisher Antibody for ABCG2
    Search LSBio for Antibodies for ABCG2

    ABCG2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ABCG2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ABCG2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ABCG2
    Cloud-Clone Corp. CLIAs for ABCG2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    ABCG: ATP binding cassette transporters / subfamily G

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCG2
    ABCG subfamily

    4 InterPro protein domains:
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR013525 ABC_2_trans

    Graphical View of Domain Structure for InterPro Entry Q9UNQ0

    ProtoNet protein and cluster: Q9UNQ0

    UniProtKB/Swiss-Prot: ABCG2_HUMAN, Q9UNQ0
    Domain: The extracellular loop 3 (ECL3) is involved in binding porphyrins and transfer them to other carriers,
    probably albumin
    Similarity: Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204)
    subfamily
    Similarity: Contains 1 ABC transmembrane type-2 domain
    Similarity: Contains 1 ABC transporter domain


    ABCG2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCG2_HUMAN, Q9UNQ0
    Function: High-capacity urate exporter functioning in both renal and extrarenal urate excretion. Plays a role in
    porphyrin homeostasis as it is able to mediates the export of protoporhyrin IX (PPIX) both from mitochondria to
    cytosol and from cytosol to extracellular space, and cellular export of hemin, and heme. Xenobiotic transporter
    that may play an important role in the exclusion of xenobiotics from the brain. Appears to play a major role in
    the multidrug resistance phenotype of several cancer cell lines. Implicated in the efflux of numerous drugs and
    xenobiotics: mitoxantrone, the photosensitizer pheophorbide, camptothecin, methotrexate, azidothymidine (AZT),
    and the anthracyclines daunorubicin and doxorubicin
    Induction: Up-regulated in brain tumors

         Genatlas biochemistry entry for ABCG2:
    ATP binding cassette superfamily,subfamily G (WHITE),member 2,multidrug resistance transporter,expressed in the
    placenta,involved in transport of specific molecules into or out the placenta,homolog to Drosophila white and
    yeast ADP1 gene

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005215transporter activity TAS9850061
    GO:0005515protein binding IPI18056989
    GO:0005524ATP binding IEA--
    GO:0008559xenobiotic-transporting ATPase activity TAS9861027
         
    ABCG2 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Abcg2):
     hematopoietic system  homeostasis/metabolism  integument  liver/biliary system  nervous system 
     no phenotypic analysis  other 

    ABCG2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ABCG2: Abcg2tm1Ahs Abcg2tm1Bsor Abcg2tm1.1Ssf Abcg2tm1(KOMP)Vlcg

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCG2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ABCG2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCG2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCG2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ABCG2:
    hsa-mir-26b-5p (MIRT029929), hsa-mir-192-5p (MIRT004129), hsa-mir-520h (MIRT001952), hsa-mir-328-3p (MIRT000081), hsa-mir-10a-5p (MIRT047731), hsa-mir-519c-3p (MIRT000998)

    Block miRNA regulation of human, mouse, rat ABCG2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ABCG2:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidABCG2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ABCG2
    Predesigned siRNA for gene silencing in human, mouse, rat ABCG2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ABCG2

    Clone
    Products:
         
    OriGene clones in human, mouse for ABCG2 (see all 7)
    OriGene ORF clones in mouse, rat for ABCG2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ABCG2 (NM_004827)
    Sino Biological Human cDNA Clone for ABCG2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCG2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ABCG2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ABCG2_HUMAN, Q9UNQ0: Cell membrane; Multi-pass membrane protein. Mitochondrion membrane; Multi-pass membrane
    protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    extracellular2
    nucleus2
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    vacuole1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0031966mitochondrial membrane IEA--

    ABCG2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ABCG2 About   (see all 20)  
    See pathways by source

    SuperPathContained pathways About
    1Irinotecan Pathway, Pharmacokinetics
    Irinotecan Pathway, Pharmacokinetics0.69
    Irinotecan Pathway, Pharmacodynamics0.50
    Irinotecan Pathway0.69
    Taxane Pathway, Pharmacokinetics0.30
    Mycophenolic acid Pathway, Pharmacokinetics/Pharmacodynamics0.50
    2Pyrimidine metabolism
    Fluoropyrimidine Activity0.69
    Fluoropyrimidine Pathway, Pharmacokinetics0.69
    3Gefitinib Pathway, Pharmacokinetics
    Gefitinib Pathway, Pharmacokinetics0.58
    Erlotinib Pathway, Pharmacokinetics0.42
    Imatinib Pathway, Pharmacokinetics/Pharmacodynamics0.58
    4Statin Pathway - Generalized, Pharmacokinetics
    Statin Pathway - Generalized, Pharmacokinetics0.50
    Pravastatin Pathway, Pharmacokinetics0.00
    5Methotrexate Pathway, Pharmacokinetics
    Methotrexate Pathway (Brain Cell), Pharmacokinetics0.43
    Methotrexate Pathway, Pharmacokinetics0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ABCG2
        Glucose / Energy Metabolism

    4 BioSystems Pathways for ABCG2
        Fluoropyrimidine Activity
    Irinotecan Pathway
    HIF-2-alpha transcription factor network
    HIF-1-alpha transcription factor network


    2 Reactome Pathways for ABCG2
        Iron uptake and transport
    Abacavir transmembrane transport

    Selected PharmGKB Pathways for ABCG2 (see all 18)
        Acetaminophen Pathway, Pharmacokinetics
    Doxorubicin Pathway (Cancer Cell), Pharmacodynamics
    Doxorubicin Pathway, Pharmacokinetics
    Erlotinib Pathway, Pharmacokinetics
    Fluoropyrimidine Pathway, Pharmacokinetics

    2 Kegg Pathways  (Kegg details for ABCG2):
        ABC transporters
    Bile secretion


    ABCG2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ABCG2: 
              Breast Cancer in human mouse rat
              Drug Transporters in human mouse rat
              Cancer Drug Resistance in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ABCG2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ABCG2 (Q9UNQ01, 2, 3 ENSP000002376124) via UniProtKB, MINT, STRING, and/or I2D (see all 192)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG481, 2, 3, ENSP000003448184EBI-1569435,EBI-3390054 MINT-7265522 MINT-7265536 I2D: score=2 STRING: ENSP00000344818
    CSNK1G2P783683I2D: score=5 
    HSD17B12Q53GQ03I2D: score=2 
    DNAJA1P316893I2D: score=1 
    FA2HQ7L5A83I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9850061
    GO:0006855drug transmembrane transport TAS--
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0015886heme transport TAS--
    GO:0042493response to drug TAS9861027

    ABCG2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for ABCG2
      Browse compounds at ApexBio 

    Compounds for ABCG2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PSC 833Inhibitor of P-gp-mediated MDR[121584-18-7]
    XR 9051 HClPotent modulator of P-gp-mediated MDR[180422-22-4]
    Ko 143Potent and selective BCRP inhibitor[461054-93-3]
    ProbenecidMRP inhibitor[57-66-9]
    Elacridar hydrochlorideP-gp inhibitor[143851-98-3]

    Selected DrugBank Compounds for ABCG2 (see all 86)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    MitoxantroneMitoxanthrone (see all 2)65271-80-9transportersubstrate inhibitor10070941 12533678 19172464 19252303 16434618 19148526 19548284 10493507 19501160 10606239 10485464 14645676 12920197 10777678 10806112 11036110 19782742 14566825 19493273 20307139 11437380 19427995 12649196 19572416 12488537 14500392 19708828
    TopotecanTopotecan Hcl (see all 5)119413-54-6transportersubstrate inhibitor12533678 10912951 10493507 19567673 10777678 11036110 10930538 15059881 20460504 12649196 11309344 15313923
    ImatinibCGP-57148B (see all 4)152459-95-5transportersubstrate inhibitor16303243 15970668 20423956 19710702 15805252 19785662 15059881 15918555 15251980 16543472 19708828
    MethotrexateAmethopterin (see all 12)59-05-2transportersubstrate19076159 19232821 12874005 19691360 12741957 19427995 12682043 15313923 14500392
    DoxorubicinAdria (see all 4)23214-92-8transportersubstrate inhibitor19232821 19390592 11437380 19427995 12682043 12649196 12488537 19708828
    Estrone-- 53-16-7transporterinhibitor15205350 12533678 12920197 14566825 12682043 11927002
    Gefitinib-- 184475-35-2transportersubstrate inhibitor19148526 19567673 19493273 15155841 19708828
    Conjugated EstrogensEstrogens (see all 10)438-67-5transportersubstrate12920197 12682043 15901800
    Daunorubicin-- 20830-81-3transportersubstrate14645676 12668685 11437380
    FlavopiridolAlvocidib (see all 5)131740-09-5transportersubstrate19148526 14645676 12960118

    Selected Novoseek inferred chemical compound relationships for ABCG2 gene (see all 136)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fumitremorgin c 96.5 89 12477054 (4), 14613996 (4), 10646850 (3), 16490770 (3) (see all 39)
    mitoxantrone 93.3 322 15047700 (5), 18725232 (5), 14613996 (4), 19118611 (4) (see all 99)
    gf 120918 92.1 58 18248513 (3), 10656616 (2), 15716365 (2), 15860656 (2) (see all 28)
    topotecan 89.3 132 14693055 (4), 15608138 (4), 16343180 (4), 11927002 (3) (see all 68)
    pheophorbide a 85.4 15 19131524 (2), 17250810 (2), 17652262 (1), 17518356 (1) (see all 8)
    mk 571 83.4 10 18718123 (1), 18728938 (1), 19421845 (1), 17543436 (1) (see all 9)
    mr20 82.4 4 15788683 (2), 15208643 (1)
    (125i)iodoarylazidoprazosin 82.2 23 16846237 (3), 19132374 (2), 15598974 (1), 18089721 (1) (see all 10)
    sn 38 81.9 16 15027118 (3), 15075385 (2), 15367706 (1), 16108826 (1) (see all 9)
    hoechst 33342 81.6 25 19270533 (1), 20118824 (1), 20203106 (1), 14612912 (1) (see all 21)

    2 PharmGKB related drug/compound annotations for ABCG2 gene    About this table
    Drug/compound PharmGKB Annotation
    methotrexateCA  
    rosuvastatinCA  



    ABCG2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ABCG2 gene (2 alternative transcripts): 
    NM_001257386.1  NM_004827.2  

    Unigene Cluster for ABCG2:

    ATP-binding cassette, sub-family G (WHITE), member 2
    Hs.480218  [show with all ESTs]
    Unigene Representative Sequence: NM_004827
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000515655(uc003hrh.3 uc003hrk.1) ENST00000237612(uc003hrf.3 uc003hrg.3 uc003hri.1 uc003hrj.1)
    ENST00000505480 ENST00000503830
    miRNA
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    Block miRNA regulation of human, mouse, rat ABCG2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ABCG2:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidABCG2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ABCG2
    Predesigned siRNA for gene silencing in human, mouse, rat ABCG2
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    GenScript: all cDNA clones in your preferred vector: ABCG2 (NM_004827)
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      QuantiTect SYBR Green Assays in human, mouse, rat ABCG2
      QuantiFast Probe-based Assays in human, mouse, rat ABCG2

    Additional mRNA sequence: 

    AB051855.1 AB056867.1 AF093771.1 AF093772.1 AF098951.2 AF103796.1 AF151530.1 AF463519.1 
    AK002040.1 AK290000.1 AY017168.1 AY288307.1 AY289766.1 AY333755.1 AY333756.1 BC011032.1 
    BC021281.2 BC092408.1 U66681.1 

    9 DOTS entries:

    DT.100786807  DT.100786806  DT.453150  DT.100713966  DT.100786805  DT.95109698  DT.102824509  DT.91738759 
    DT.95197134 

    Selected AceView cDNA sequences (see all 117):

    AB051855 BE765504 Z41385 CR621441 BX504168 AA933960 BC021281 AB056867 
    AI424453 C18155 BG573081 BX104985 BM853954 R77787 AW270740 N59214 
    AY017168 AK002040 CD365766 AA227509 BG573904 F08388 AY288307 F04525 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ABCG2    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c
    SP1:                                                                                                                                          
    SP2:                                                                                                        -                                 
    SP3:                                                                                                                                          
    SP4:                          -                                                                                                               
    SP5:                    -                                                                                                                     


    ECgene alternative splicing isoforms for ABCG2

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ABCG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTGGCGAA
    ABCG2 Expression
    About this image


    ABCG2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
             Mature brain microvascular endothelial cells
     
     Eye (Sensory Organs)    fully expand to see all 12 entries
             Limbal Basal Epithelial Cells Limbus Epithelium
             Limbal corneal epithelial stem cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
             Mature brain microvascular endothelial cells
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 6 entries
             BresaGen 03
    ABCG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.480218

    UniProtKB/Swiss-Prot: ABCG2_HUMAN, Q9UNQ0
    Tissue specificity: Highly expressed in placenta. Low expression in small intestine, liver and colon

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ABCG2: 
              Breast Cancer in human mouse rat
              Drug Transporters in human mouse rat
              Cancer Drug Resistance in human mouse rat
              Stem Cells in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG2

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCG2 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcg21 , 5 ATP-binding cassette, sub-family G (WHITE), member more1, 5 82.47(n)1
    82.11(a)1
      6 (27.82 cM)5
    263571  NM_011920.31  NP_036050.11 
     585845235 
    chicken
    (Gallus gallus)
    Aves ABCG21 ATP-binding cassette, sub-family G (WHITE), member more 62.81(n)
    65.33(a)
      423767  XM_421638.4  XP_421638.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    71(a)
    61(a)
    many → 1
    many → 1
    5(45655854-45690941)
    5(45626486-45648232)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.82622 Transcribed sequence with weak similarity to protein more 74(n)    CF272170.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abcg2a1 ATP-binding cassette, sub-family G (WHITE), member more 63.3(n)
    64.01(a)
      735312  NM_001042775.1  NP_001036240.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta E233
    w1
    ATP-binding cassette (ABC) transporter3
    white1
    38(a)
    (best of 3)3
    44.94(n)1
    35.71(a)1
      312711  NM_057439.21  NP_476787.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T26A5.13
    wht-71
    wht-71 30(a)
    (best of 7)3
    43.42(n)1
    32.35(a)1
      III(6544101-6546966)3
    1758641  NM_001047416.11  NP_001040881.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADP1(YCR011C)4
    ADP11
    Putative ATP-dependent permease of the ABC transporter more4
    ADP11
    46.03(n)1
    36.08(a)1
      3(136873-133724)4
    8503691, 4  NP_009937.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G065301 AT5G06530 47.25(n)
    38.22(a)
      830541  NM_180450.2  NP_850781.2 
    rice
    (Oryza sativa)
    Liliopsida Os.89002 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 67.25(n)    AK066035.1 


    ENSEMBL Gene Tree for ABCG2 (if available)
    TreeFam Gene Tree for ABCG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCG2 gene
    ABCG12  ABCG82  ABCG52  ABCG42  
    Selected SIMAP similar genes for ABCG2 using alignment to 9 protein entries:     ABCG2_HUMAN (see all proteins) (see all similar genes):
    ABCA5    ABCG1    ABCG4    ABCG8    ABCA3 variant protein    ABCG5
    ABCA3    ABCA9    DKFZp686F2450    ABCA10    ABCB11    ABCC11
    ABCA7    ABCC12    ABCA12    ABCB4    ABCA2    ABCB7

    ABCG2 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for ABCG2
    PGOHUM00000248237 PGOHUM00000251210 PGOHUM00000241127


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ABCG2_HUMAN, Q9UNQ0: Genetic variations in ABCG2 define the blood group Junior system (JR) [MIM:614490]. Individuals with
    Jr(a-) blood group lack the Jr(a) antigen on their red blood cells. These individuals may have anti-Jr(a)
    antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn.
    Although the clinical significance of the Jr(a-) blood group has been controversial, severe fatal hemolytic
    disease of the newborn has been reported. The Jr(a-) phenotype has a higher frequency in individuals of Asian
    descent, compared to those of European descent. The Jr(a-) phenotype is inherited as an autosomal recessive trait
    ABCG2_HUMAN, Q9UNQ0: Genetic variations in ABCG2 influence the variance in serum uric acid concentrations and define the
    serum uric acid concentration quantitative trait locus 1 (UAQTL1) [MIM:138900]. Excess serum accumulation of uric
    acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium
    urate crystals as a consequence of hyperuricemia


    Selected SNPs for ABCG2 (see all 3145)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1994736971,2
    Cuntested188828926(+) GAGTGA/CAAAAT 2 -- int10--------
    rs1994736721,2
    Cuntested188861345(-) AGCACC/AGCGAC 4 /Q /P mis11Minor allele frequency- A:0.00EU 1319
    rs792951671,2
    C--84782876(+) TCTCTC/GTCTCT 2 -- int10--------
    rs760575131,2
    C,F--84793854(+) CAAACC/TGAATC 2 -- int12Minor allele frequency- T:0.50NA 4
    rs1126638621,2
    C--84813684(+) GGGACGCTGA/
            
    GGCAG
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs114131031,2
    C--84814187(+) GTAAG-/TGTGGG 1 -- int10--------
    rs667377411,2
    C--84814188(+) TAAGG-/TTGGGA 1 -- int10--------
    rs341679741,2
    C--84814745(+) AGAAA-/GAAG  
            
    GAAGG
    1 -- int10--------
    rs41481621,2
    C,F--84827401(-) CTCAC-/TCAC  
            
    AAAGC
    1 -- us2k12Minor allele frequency- TCAC:0.27NS 94
    rs32191911,2
    C,F--84827402(-) ACTCA-/CTC   
      A
    /TCAC
    CAAAG
    1 -- us2k12--204

    HapMap Linkage Disequilibrium report for ABCG2 (89011416 - 89152474 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABCG2 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2727950CNV Deletion23290073
    esv2381400CNV Deletion18987734
    esv4251CNV Deletion18987735
    esv2665331CNV Deletion23128226
    esv1001700CNV Deletion20482838
    esv2452870CNV Deletion19546169
    esv1361477CNV Deletion17803354
    nsv4414CNV Insertion18451855
    nsv509009CNV Insertion20534489
    esv7989CNV Loss19470904

    Human Gene Mutation Database (HGMD): ABCG2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCG2
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCG2

    (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.)
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    OMIM gene information: 603756   
    OMIM disorders: 614490  138900  
    Selected diseases for ABCG2 (see all 100):    
    About MalaCards
    persistent fetal circulation syndrome    nonpapillary renal cell carcinoma    erythroplakia    choriocarcinoma
    adult acute lymphocytic leukemia    core binding factor acute myeloid leukemia    dysembryoplastic neuroepithelial tumor    placental choriocarcinoma
    breast cancer    acute lymphocytic leukemia    gout    gilbert syndrome
    somatostatin analog    brain cancer    cerebral amyloid angiopathy    toxic encephalopathy
    central nervous system lymphoma    cardiovascular disease risk factor    hyperuricemia    breast adenocarcinoma

    5 diseases from the University of Copenhagen DISEASES database for ABCG2:
    Gout     Leukemia     Breast cancer     Hyperuricemia
    Lung cancer

    ABCG2 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ABCG2 gene (see all 54)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 85.1 618 19035187 (4), 18820913 (4), 11566359 (3), 11948115 (3) (see all 99)
    cancer 65.4 219 19827267 (5), 19642144 (5), 17767037 (4), 16554028 (4) (see all 99)
    aml adult 58.4 11 12393637 (4), 20122734 (2), 16278398 (1), 15541485 (1)
    tumors 47.1 111 19659474 (6), 10825126 (3), 16061644 (3), 15146167 (3) (see all 76)
    choriocarcinoma 44.9 9 16445700 (2), 11566359 (1), 15634651 (1), 19146924 (1) (see all 7)
    nsclc 41.9 63 16520985 (4), 17366786 (4), 12912956 (3), 17534875 (3) (see all 17)
    aml childhood 40.6 3 18228020 (1), 12145683 (1), 20426950 (1)
    leukemia 37.7 14 19635183 (2), 16403267 (1), 19862976 (1), 10720143 (1) (see all 11)
    acute leukemia 34.4 13 14989769 (2), 15160935 (2), 19862976 (1), 20350531 (1) (see all 8)
    neuroepithelial tumors 31.5 1 14636345 (1)

    Genetic Association Database (GAD): ABCG2
    Human Genome Epidemiology (HuGE) Navigator: ABCG2 (112 documents)

    Export disorders for ABCG2 gene to outside databases

    (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)
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    PubMed articles for ABCG2 gene, integrated from 10 sources (see all 1104):
    (articles sorted by number of sources associating them with ABCG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Influence of drug transporters and UGT polymorphisms on pharmacokinetics of phenolic glucuronide metabolite of mycophenolic acid in Japanese renal transplant recipients. (PubMed id 18695635)1, 4, 7, 9 Miura M....Suzuki T. (Ther Drug Monit 2008)
    2. A multidrug resistance transporter from human MCF-7 breast cancer cells. (PubMed id 9861027)1, 2, 3, 9 Doyle L.A....Ross D.D. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population. (PubMed id 20368174)1, 2, 4 Matsuo H.... Shinomiya N. (Sci. Transl. Med. 2009)
    4. Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. (PubMed id 19506252)1, 2, 4 Woodward O.M....Kottgen M. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    5. Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. (PubMed id 18834626)1, 2, 4 Dehghan A.... Fox C.S. (Lancet 2008)
    6. Breast cancer resistance protein and P-glycoprotein limit sorafenib brain accumulation. (PubMed id 20103600)1, 7, 9 Lagas J.S....Schinkel A.H. (Mol. Cancer Ther. 2010)
    7. Detection of single nucleotide polymorphisms in the ABCG2 gene in a Dutch population. (PubMed id 15813675)1, 4, 9 Bosch T.M....Meijerman I. (Am J Pharmacogenomics 2005)
    8. Single nucleotide polymorphisms modify the transporter activity of ABCG2. (PubMed id 15838659)1, 2, 9 Morisaki K.... Bates S.E. (Cancer Chemother. Pharmacol. 2005)
    9. Characterization of oligomeric human half-ABC transporter ATP-binding cassette G2. (PubMed id 15001581)1, 2, 9 Xu J....Zhang J.T. (J. Biol. Chem. 2004)
    10. Sterol transport by the human breast cancer resistance protein (ABCG2) expressed in Lactococcus lactis. (PubMed id 12668685)1, 7, 9 Janvilisri T....van Veen H.W. (J. Biol. Chem. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9429 HGNC: 74 AceView: ABCG2 Ensembl:ENSG00000118777 euGenes: HUgn9429
    ECgene: ABCG2 Kegg: 9429 H-InvDB: ABCG2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ABCG2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ABCG2 Genetics and Cytogenetics in Oncology and Haematology
    SeattleSNPshttp://pga.gs.washington.edu/data/abcg2/
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9UNQ0

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCG2 gene:
    Search GeneIP for patents involving ABCG2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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