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 ref... See more...

Aliases for ABCG2 Gene

Aliases for ABCG2 Gene

  • ATP Binding Cassette Subfamily G Member 2 (Junior Blood Group) 2 3 5
  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 2 (Junior Blood Group) 2 3
  • Broad Substrate Specificity ATP-Binding Cassette Transporter ABCG2 3 4
  • Placenta-Specific ATP-Binding Cassette Transporter 3 4
  • Mitoxantrone Resistance-Associated Protein 3 4
  • Breast Cancer Resistance Protein 3 4
  • Urate Exporter 3 4
  • CDw338 3 4
  • BCRP1 3 4
  • ABCP 3 4
  • BCRP 3 4
  • MXR 3 4
  • Multi Drug Resistance Efflux Transport ATP-Binding Cassette Sub-Family G (WHITE) Member 2 3
  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 2 2
  • ATP-Binding Cassette Sub-Family G Member 2 4
  • ATP-Binding Cassette Transporter G2 3
  • Placenta Specific MDR Protein 3
  • ABC Transporter 3
  • CD338 Antigen 4
  • EC 7.6.2.2 4
  • EST157481 3
  • UAQTL1 3
  • ABC15 3
  • CD338 3
  • GOUT1 3
  • MXR-1 3
  • BMDP 3
  • MXR1 3
  • MRX 3

External Ids for ABCG2 Gene

Previous GeneCards Identifiers for ABCG2 Gene

  • GC04M089170
  • GC04M089314
  • GC04M089471
  • GC04M089370
  • GC04M089230
  • GC04M089011
  • GC04M084757

Summaries for ABCG2 Gene

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]

CIViC Summary for ABCG2 Gene

GeneCards Summary for ABCG2 Gene

ABCG2 (ATP Binding Cassette Subfamily G Member 2 (Junior Blood Group)) is a Protein Coding gene. Diseases associated with ABCG2 include Uric Acid Concentration, Serum, Quantitative Trait Locus 1 and Blood Group, Junior System. Among its related pathways are Ponatinib Pathway, Pharmacokinetics/Pharmacodynamics and Erlotinib Pathway, Pharmacokinetics. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ATPase activity. An important paralog of this gene is ABCG1.

UniProtKB/Swiss-Prot Summary for ABCG2 Gene

  • Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes a wide variety of physiological compounds, dietary toxins and xenobiotics from cells (PubMed:11306452, PubMed:12958161, PubMed:19506252, PubMed:20705604, PubMed:28554189, PubMed:30405239, PubMed:31003562). Involved in porphyrin homeostasis, mediating the export of protoporphyrin IX (PPIX) from both mitochondria to cytosol and cytosol to extracellular space, it also functions in the cellular export of heme (PubMed:20705604, PubMed:23189181). Also mediates the efflux of sphingosine-1-P from cells (PubMed:20110355). Acts as a urate exporter functioning in both renal and extrarenal urate excretion (PubMed:19506252, PubMed:20368174, PubMed:22132962, PubMed:31003562). In kidney, it also functions as a physiological exporter of the uremic toxin indoxyl sulfate (By similarity). Also involved in the excretion of steroids like estrone 3-sulfate/E1S, 3beta-sulfooxy-androst-5-en-17-one/DHEAS, and other sulfate conjugates (PubMed:12682043, PubMed:28554189, PubMed:30405239). Mediates the secretion of the riboflavin and biotin vitamins into milk (By similarity). Extrudes pheophorbide a, a phototoxic porphyrin catabolite of chlorophyll, reducing its bioavailability (By similarity). Plays an important role in the exclusion of xenobiotics from the brain (Probable). It confers to cells a resistance to multiple drugs and other xenobiotics including mitoxantrone, pheophorbide, camptothecin, methotrexate, azidothymidine, and the anthracyclines daunorubicin and doxorubicin, through the control of their efflux (PubMed:11306452, PubMed:12477054, PubMed:15670731, PubMed:18056989, PubMed:31254042). In placenta, it limits the penetration of drugs from the maternal plasma into the fetus (By similarity). May play a role in early stem cell self-renewal by blocking differentiation (By similarity).

Tocris Summary for ABCG2 Gene

  • ATP-binding cassette (ABC) transporters form one of the largest groups of paralogous protein families that have a wide diversity of functions and substrates. Specificity has been shown for small and large molecules, highly charged molecules and highly hydrophobic systems.

Gene Wiki entry for ABCG2 Gene

PharmGKB "VIP" Summary for ABCG2 Gene

Additional gene information for ABCG2 Gene

No data available for Rfam classification and piRNA Summary for ABCG2 Gene

Genomics for ABCG2 Gene

GeneHancer (GH) Regulatory Elements for ABCG2 Gene

Promoters and enhancers for ABCG2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J088157 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 505.5 +73.1 73130 3.4 ZSCAN5C POLR2G USF1 FOS ZIC2 ZBTB26 CUX1 MYC HDAC2 KMT2B ABCG2 HSALNG0035741 RNU6-818P RNU6ATAC31P piR-30444-218
GH04J088230 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.3 254 1.8 NFIC GATA2 ABCG2 PPM1K-DT PPM1K RNU6-112P RNU6ATAC31P ENSG00000249755 PIGY PYURF HERC3 RF00026-804
GH04J088244 Promoter 0.3 EPDnew 500.4 -13.8 -13828 0.1 ABCG2 RNU6-112P PPM1K PPM1K-DT HERC6 RNU6-818P PIGY PYURF ENSG00000249755 HERC3
GH04J088163 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 4.9 +68.6 68628 2 ZIC2 NR2F2 POLR2A FOSL2 CEBPB FOS JUN JUND NR2F1 RAD21 ENSG00000241853 RPL31P24 RF00017-4359 ABCG2 SPP1 HSALNG0035741
GH04J088141 Enhancer 1 Ensembl ENCODE 4.7 +86.3 86320 8.5 ZNF217 TCF12 FOS ZNF10 CUX1 EP300 GATAD2B CTBP1 OSR2 HDAC2 RNU6-818P RNU6ATAC31P PPM1K-DT ABCG2 lnc-PPM1K-3 piR-30444-218
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCG2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCG2

Top Transcription factor binding sites by QIAGEN in the ABCG2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • HNF-1
  • HNF-1A
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1

Genomic Locations for ABCG2 Gene

Genomic Locations for ABCG2 Gene
chr4:88,090,150-88,231,628
(GRCh38/hg38)
Size:
141,479 bases
Orientation:
Minus strand
chr4:89,011,416-89,152,474
(GRCh37/hg19)
Size:
141,059 bases
Orientation:
Minus strand

Genomic View for ABCG2 Gene

Genes around ABCG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCG2 Gene

Proteins for ABCG2 Gene

  • Protein details for ABCG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNQ0-ABCG2_HUMAN
    Recommended name:
    Broad substrate specificity ATP-binding cassette transporter ABCG2
    Protein Accession:
    Q9UNQ0
    Secondary Accessions:
    • A0A1W3
    • A8K1T5
    • O95374
    • Q4W5I3
    • Q53ZQ1
    • Q569L4
    • Q5YLG4
    • Q86V64
    • Q8IX16
    • Q96LD6
    • Q96TA8
    • Q9BY73
    • Q9NUS0

    Protein attributes for ABCG2 Gene

    Size:
    655 amino acids
    Molecular mass:
    72314 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (PubMed:15001581, PubMed:17686774, PubMed:18056989, PubMed:28554189). The minimal functional unit is a homodimer, but the major oligomeric form in plasma membrane is a homotetramer with possibility of higher order oligomerization up to homododecamers (PubMed:15001581).
    SequenceCaution:
    • Sequence=AF093771; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AF093772; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ABCG2 Gene

    Alternative splice isoforms for ABCG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCG2 Gene

Post-translational modifications for ABCG2 Gene

  • N-glycosylated (PubMed:15807535, PubMed:23189181). Glycosylation-deficient ABCG2 is normally expressed and functional.
  • Phosphorylated. Phosphorylation at Thr-362 by PIM1 is induced by drugs like mitoxantrone and is associated with cells increased drug resistance. It regulates the localization to the plasma membrane, the homooligomerization and therefore, the activity of the transporter.
  • Glycosylation at Asn596
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ABCG2 Gene

Domains & Families for ABCG2 Gene

Gene Families for ABCG2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ABCG2 Gene

Suggested Antigen Peptide Sequences for ABCG2 Gene

GenScript: Design optimal peptide antigens:
  • Placenta-specific ATP-binding cassette transporter (ABCG2_HUMAN)
  • Multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (F8S0F2_HUMAN)
  • Multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (F8S0F6_HUMAN)
  • Multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (F8S0F7_HUMAN)
  • Breast cancer resistance protein (Q8WZ76_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UNQ0

UniProtKB/Swiss-Prot:

ABCG2_HUMAN :
  • The extracellular loop 3 (ECL3) is involved in binding porphyrins and transfer them to other carriers, probably albumin.
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
Domain:
  • The extracellular loop 3 (ECL3) is involved in binding porphyrins and transfer them to other carriers, probably albumin.
Family:
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
genes like me logo Genes that share domains with ABCG2: view

Function for ABCG2 Gene

Molecular function for ABCG2 Gene

UniProtKB/Swiss-Prot Function:
Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes a wide variety of physiological compounds, dietary toxins and xenobiotics from cells (PubMed:11306452, PubMed:12958161, PubMed:19506252, PubMed:20705604, PubMed:28554189, PubMed:30405239, PubMed:31003562). Involved in porphyrin homeostasis, mediating the export of protoporphyrin IX (PPIX) from both mitochondria to cytosol and cytosol to extracellular space, it also functions in the cellular export of heme (PubMed:20705604, PubMed:23189181). Also mediates the efflux of sphingosine-1-P from cells (PubMed:20110355). Acts as a urate exporter functioning in both renal and extrarenal urate excretion (PubMed:19506252, PubMed:20368174, PubMed:22132962, PubMed:31003562). In kidney, it also functions as a physiological exporter of the uremic toxin indoxyl sulfate (By similarity). Also involved in the excretion of steroids like estrone 3-sulfate/E1S, 3beta-sulfooxy-androst-5-en-17-one/DHEAS, and other sulfate conjugates (PubMed:12682043, PubMed:28554189, PubMed:30405239). Mediates the secretion of the riboflavin and biotin vitamins into milk (By similarity). Extrudes pheophorbide a, a phototoxic porphyrin catabolite of chlorophyll, reducing its bioavailability (By similarity). Plays an important role in the exclusion of xenobiotics from the brain (Probable). It confers to cells a resistance to multiple drugs and other xenobiotics including mitoxantrone, pheophorbide, camptothecin, methotrexate, azidothymidine, and the anthracyclines daunorubicin and doxorubicin, through the control of their efflux (PubMed:11306452, PubMed:12477054, PubMed:15670731, PubMed:18056989, PubMed:31254042). In placenta, it limits the penetration of drugs from the maternal plasma into the fetus (By similarity). May play a role in early stem cell self-renewal by blocking differentiation (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(2)O + xenobiotic(Side 1) = ADP + phosphate + xenobiotic(Side 2).; EC=7.6.2.2; Evidence={ECO:0000269 PubMed:11306452, ECO:0000269 PubMed:12477054, ECO:0000269 PubMed:12958161, ECO:0000269 PubMed:31254042};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=urate(out) = urate(in); Xref=Rhea:RHEA:60368, ChEBI:CHEBI:17775; Evidence={ECO:0000269 PubMed:19506252, ECO:0000269 PubMed:20368174, ECO:0000269 PubMed:22132962, ECO:0000269 PubMed:31003562}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60369; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + indoxyl sulfate(in) = ADP + H(+) + indoxyl sulfate(out) + phosphate; Xref=Rhea:RHEA:61332, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:144643, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61333; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + sphing-4-enine 1-phosphate(in) = ADP + H(+) + phosphate + sphing-4-enine 1-phosphate(out); Xref=Rhea:RHEA:38951, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:60119, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38952; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + estrone 3-sulfate(in) + H2O = ADP + estrone 3-sulfate(out) + H(+) + phosphate; Xref=Rhea:RHEA:61348, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:60050, ChEBI:CHEBI:456216; Evidence={ECO:0000269 PubMed:12682043, ECO:0000269 PubMed:28554189, ECO:0000269 PubMed:30405239}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61349; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3beta-sulfooxy-androst-5-en-17-one(in) + ATP + H2O = 3beta-sulfooxy-androst-5-en-17-one(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:61364, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57905, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61365; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4-methylumbelliferone sulfate(in) + ATP + H2O = 4-methylumbelliferone sulfate(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:61368, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:144581, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61369; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5,7-dimethyl-2-methylamino-4-(3-pyridylmethyl)-1,3-benzothiazol-6-yl beta-D-glucuronate(in) + ATP + H2O = 5,7-dimethyl-2-methylamino-4-(3-pyridylmethyl)-1,3-benzothiazol-6-yl beta-D-glucuronate(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:61384, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:144584, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61385; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4-methylumbelliferone beta-D-glucuronate(in) + ATP + H2O = 4-methylumbelliferone beta-D-glucuronate(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:61372, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:144582, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61373; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5,7-dimethyl-2-methylamino-4-(3-pyridylmethyl)-1,3-benzothiazol-6-yl sulfate(in) + ATP + H2O = 5,7-dimethyl-2-methylamino-4-(3-pyridylmethyl)-1,3-benzothiazol-6-yl sulfate(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:61376, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:144583, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61377; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-estradiol 17-O-(beta-D-glucuronate)(in) + ATP + H2O = 17beta-estradiol 17-O-(beta-D-glucuronate)(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:60128, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:82961, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60129; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + methotrexate(in) = ADP + H(+) + methotrexate(out) + phosphate; Xref=Rhea:RHEA:61356, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:50681, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61357; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + riboflavin(in) = ADP + H(+) + phosphate + riboflavin(out); Xref=Rhea:RHEA:61352, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57986, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61353; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + pheophorbide a(in) = ADP + H(+) + pheophorbide a(out) + phosphate; Xref=Rhea:RHEA:61360, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58687, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61361; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Specifically inhibited by the fungal toxin fumitremorgin C and Ko143.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=16.6 uM for estrone 3-sulfate {ECO:0000269 PubMed:12682043}; KM=1.23 mM for ATP {ECO:0000269 PubMed:12682043}; KM=12.9 uM for 4-methylumbelliferone sulfate {ECO:0000269 PubMed:12682043}; KM=26.9 uM for 6-hydroxy-5,7-dimethyl-2-methylamino-4-(3- pyridylmethyl)benzothiazole sulfate {ECO:0000269 PubMed:12682043}; KM=8.24 mM for urate {ECO:0000269 PubMed:22132962}; Vmax=2.34 nmol/min/mg enzyme for estrone 3-sulfate transport {ECO:0000269 PubMed:12682043}; Vmax=6.96 nmol/min/mg enzyme for urate transport {ECO:0000269 PubMed:22132962};
GENATLAS Biochemistry:
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

Enzyme Numbers (IUBMB) for ABCG2 Gene

Phenotypes From GWAS Catalog for ABCG2 Gene

Gene Ontology (GO) - Molecular Function for ABCG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18056989
GO:0005524 ATP binding IEA --
GO:0008559 xenobiotic transmembrane transporting ATPase activity IDA 9861027
GO:0015143 urate transmembrane transporter activity IMP 19506252
GO:0015225 biotin transmembrane transporter activity ISS --
genes like me logo Genes that share ontologies with ABCG2: view
genes like me logo Genes that share phenotypes with ABCG2: view

Animal Models for ABCG2 Gene

MGI Knock Outs for ABCG2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCG2

Clone Products

  • Addgene plasmids for ABCG2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABCG2 Gene

Localization for ABCG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCG2 Gene

Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Mitochondrion membrane; Multi-pass membrane protein. Note=Enriched in membrane lipid rafts. {ECO:0000269 PubMed:28623970}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCG2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
mitochondrion 4
extracellular 3
cytoskeleton 3
peroxisome 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005886 plasma membrane TAS,IBA --
genes like me logo Genes that share ontologies with ABCG2: view

Pathways & Interactions for ABCG2 Gene

genes like me logo Genes that share pathways with ABCG2: view

SIGNOR curated interactions for ABCG2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ABCG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis TAS --
GO:0015747 urate transport IEA --
GO:0015878 biotin transport ISS --
GO:0032218 riboflavin transport IDA 17145775
GO:0046415 urate metabolic process IMP 18834626
genes like me logo Genes that share ontologies with ABCG2: view

Drugs & Compounds for ABCG2 Gene

(262) Drugs for ABCG2 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxorubicin Approved, Investigational Pharma Transporter, substrate Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2036
Gefitinib Approved, Investigational Pharma Transporter, substrate, inhibitor EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 401
Irinotecan Approved, Investigational Pharma Transporter, substrate Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1353
Methotrexate Approved Pharma Transporter, substrate Folate antagonist,inhibits DFHR 1796
Mitoxantrone Approved, Investigational Pharma Transporter, substrate, inhibitor 296

(38) Additional Compounds for ABCG2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Hydroxyomeprazole
  • 5-Methoxy-2-(((4-methoxy-3-methyl-5-hydroxymethyl-2-pyridinyl)methyl)sulfinyl)-1H-benzimidazole
  • Hydroxyomeprazole
  • 5-Methoxy-2-(((4-methoxy-3-methyl-5-hydroxymethyl-2-pyridinyl)methyl)sulphinyl)-1H-benzimidazole
  • 5-Hydroxy omeprazole
  • 5-Hydroxymethylomeprazole
Hydroxylansoprazole
  • 5-Hydroxy lansoprazole
N-desmethylimatinib
  • CGP74588
O-Desmethylverapamil (D-702)

(3) Tocris Compounds for ABCG2 Gene

Compound Action Cas Number
Fumitremorgin C Inhibitor of BCRP-mediated multidrug resistance 118974-02-0
Ko 143 Potent and selective BCRP inhibitor 461054-93-3
Pyrimethamine Potent inhibitor of multidrug and toxin extrusion (MATE) transporters; also DHFR and STAT3 inhibitor 58-14-0

(7) ApexBio Compounds for ABCG2 Gene

Compound Action Cas Number
Dofequidar 129716-58-1
Dofequidar fumarate MDR reversal agent 153653-30-6
Elacridar BCRP inhibitor 143664-11-3
Elacridar hydrochloride BCRP and P-GP inhibitor 143851-98-3
Ko 143 BCRP inhibitor,potent and selective 461054-93-3
Tariquidar methanesulfonate, hydrate P-glycoprotein inhibitor, potent and selective 625375-83-9
Zosuquidar MDR modulator 167354-41-8
genes like me logo Genes that share compounds with ABCG2: view

Drug Products

Transcripts for ABCG2 Gene

mRNA/cDNA for ABCG2 Gene

7 REFSEQ mRNAs :
91 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCG2

Clone Products

  • Addgene plasmids for ABCG2

Alternative Splicing Database (ASD) splice patterns (SP) for ABCG2 Gene

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: -

Relevant External Links for ABCG2 Gene

GeneLoc Exon Structure for
ABCG2

Expression for ABCG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABCG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABCG2 Gene

This gene is overexpressed in Milk (66.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCG2 Gene



Protein tissue co-expression partners for ABCG2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCG2

SOURCE GeneReport for Unigene cluster for ABCG2 Gene:

Hs.480218

mRNA Expression by UniProt/SwissProt for ABCG2 Gene:

Q9UNQ0-ABCG2_HUMAN
Tissue specificity: Highly expressed in placenta (PubMed:9850061). Low expression in small intestine, liver and colon (PubMed:9861027). Expressed in brain (at protein level) (PubMed:12958161).

Evidence on tissue expression from TISSUES for ABCG2 Gene

  • Nervous system(4.9)
  • Pancreas(4.2)
  • Intestine(3.2)
  • Blood(3.1)
  • Liver(3)
  • Kidney(2.5)
  • Eye(2.2)
  • Lung(2.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with ABCG2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCG2 Gene

Orthologs for ABCG2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCG2 31 30
  • 99.39 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABCG2 31 30
  • 88.12 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABCG2 31 30
  • 86.86 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abcg2 17 31 30
  • 82.47 (n)
Abcg3 31
  • 55 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Abcg2 30
  • 82.42 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCG2 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCG2 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCG2 31 30
  • 62.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 71 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia abcg2 30
  • 67.31 (n)
Str.8262 30
zebrafish
(Danio rerio)
Actinopterygii abcg2a 31 30
  • 63.3 (n)
OneToMany
abcg2d 31
  • 55 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2184 30
African malaria mosquito
(Anopheles gambiae)
Insecta WHITE_ANOGA 30
  • 45.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta w 32 30
  • 44.94 (n)
E23 32
  • 38 (a)
st 32
  • 29 (a)
bw 31
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea wht-7 30
  • 43.42 (n)
C10C6.5 32
  • 30 (a)
T26A5.1 32
  • 30 (a)
C05D10.3 32
  • 30 (a)
wht-1 31
  • 29 (a)
ManyToMany
Y47D3A.11 32
  • 29 (a)
C16C10.12 32
  • 29 (a)
F02E11.1 32
  • 27 (a)
F19B6.4 32
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADP1 33 31 30
  • 46.03 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04554g 30
  • 45.43 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER190W 30
  • 44.73 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G06530 30
  • 47.25 (n)
rice
(Oryza sativa)
Liliopsida Os03g0157400 30
  • 46.35 (n)
Os.8900 30
bread mold
(Neurospora crassa)
Ascomycetes NCU02544 30
  • 47.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToOne
Species where no ortholog for ABCG2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCG2 Gene

ENSEMBL:
Gene Tree for ABCG2 (if available)
TreeFam:
Gene Tree for ABCG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCG2: view image

Paralogs for ABCG2 Gene

Paralogs for ABCG2 Gene

(27) SIMAP similar genes for ABCG2 Gene using alignment to 9 proteins:

  • ABCG2_HUMAN
  • F8S0F2_HUMAN
  • F8S0F6_HUMAN
  • F8S0F7_HUMAN
  • H0YAF1_HUMAN
  • H0YAF3_HUMAN
  • I4EPX2_HUMAN
  • I7JB59_HUMAN
  • Q8WZ76_HUMAN

Pseudogenes.org Pseudogenes for ABCG2 Gene

genes like me logo Genes that share paralogs with ABCG2: view

Variants for ABCG2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ABCG2 Gene

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 (PubMed:18834626, PubMed:19506252, PubMed:20368174).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCG2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
782442 Benign: not provided 88,132,638(-) G/A INTRON_VARIANT
787808 Benign: not provided 88,131,812(-) G/A SYNONYMOUS_VARIANT
rs140207606 Association: Blood group, Junior system 88,118,244(-) G/A NONSENSE
rs1553935607 Uncertain Significance: not provided 88,131,172(-) TA/T FRAMESHIFT_VARIANT
rs200190472 Affects: Blood group, Junior system 88,118,214(-) G/A NONSENSE

Additional dbSNP identifiers (rs#s) for ABCG2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ABCG2 Gene

Variant ID Type Subtype PubMed ID
dgv2849n106 CNV deletion 24896259
esv1001700 CNV deletion 20482838
esv1361477 CNV deletion 17803354
esv2381400 CNV deletion 18987734
esv2452870 CNV deletion 19546169
esv2663932 CNV deletion 23128226
esv2665331 CNV deletion 23128226
esv2727950 CNV deletion 23290073
esv2759266 CNV gain 17122850
esv33059 CNV loss 17666407
esv3564213 CNV deletion 23714750
esv3601296 CNV gain 21293372
esv3601298 CNV loss 21293372
esv3601299 CNV loss 21293372
esv3601300 CNV loss 21293372
esv4251 CNV loss 18987735
esv7989 CNV loss 19470904
esv992731 CNV insertion 20482838
nsv10531 CNV gain 18304495
nsv1073351 CNV deletion 25765185
nsv1149424 CNV deletion 26484159
nsv292910 CNV deletion 16902084
nsv4413 CNV deletion 18451855
nsv4414 CNV insertion 18451855
nsv4415 CNV insertion 18451855
nsv441897 CNV gain 18776908
nsv473580 CNV novel sequence insertion 20440878
nsv509009 CNV insertion 20534489
nsv818249 CNV gain 17921354
nsv950353 CNV duplication 24416366
nsv956330 CNV deletion 24416366
nsv966295 CNV duplication 23825009

Variation tolerance for ABCG2 Gene

Residual Variation Intolerance Score: 79.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.94; 79.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCG2 Gene

Human Gene Mutation Database (HGMD)
ABCG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCG2

SNP Genotyping and Copy Number Assay Products

Disorders for ABCG2 Gene

MalaCards: The human disease database

(36) MalaCards diseases for ABCG2 Gene - From: OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
uric acid concentration, serum, quantitative trait locus 1
  • uaqtl1
blood group, junior system
  • jr
hyperuricemia
  • blood urate raized
placental choriocarcinoma
  • choriocarcinoma of the placenta
gout
  • articular gout
- elite association - COSMIC cancer census association via MalaCards
Search ABCG2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABCG2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ABCG2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCG2 Gene

Publications for ABCG2 Gene

  1. Breast cancer resistance protein and P-glycoprotein limit sorafenib brain accumulation. (PMID: 20103600) Lagas JS … Schinkel AH (Molecular cancer therapeutics 2010) 3 23 26 54
  2. Glutathione transport is a unique function of the ATP-binding cassette protein ABCG2. (PMID: 20332504) Brechbuhl HM … Day BJ (The Journal of biological chemistry 2010) 3 4 23 54
  3. ABCG2 polymorphism is associated with the low-density lipoprotein cholesterol response to rosuvastatin. (PMID: 20130569) Tomlinson B … Li EK (Clinical pharmacology and therapeutics 2010) 3 23 41 54
  4. Identification and functional characterization of breast cancer resistance protein in human bronchial epithelial cells (Calu-3). (PMID: 19782742) Paturi DK … Mitra AK (International journal of pharmaceutics 2010) 3 23 26 54
  5. Clinical relevance of a pharmacogenetic approach using multiple candidate genes to predict response and resistance to imatinib therapy in chronic myeloid leukemia. (PMID: 19584153) Kim DH … Lipton JH (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 23 41 54

Products for ABCG2 Gene

Sources for ABCG2 Gene