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    ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) [ Homo sapiens (human) ]

    Gene ID: 9429, updated on 23-Apr-2017
    Official Symbol
    ABCG2provided by HGNC
    Official Full Name
    ATP binding cassette subfamily G member 2 (Junior blood group)provided by HGNC
    Primary source
    HGNC:HGNC:74
    See related
    Ensembl:ENSG00000118777 MIM:603756; Vega:OTTHUMG00000130601
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRX; MXR; ABCP; BCRP; BMDP; MXR1; ABC15; BCRP1; CD338; GOUT1; MXR-1; CDw338; UAQTL1; EST157481
    Summary
    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]
    Orthologs
    Location:
    4q22.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (88090264..88231417, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (89011416..89152569, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377325 Neighboring gene RNA, U1 small nuclear 36, pseudogene Neighboring gene polycystin 2, transient receptor potential cation channel Neighboring gene ribosomal protein L31 pseudogene 24 Neighboring gene RNA, U6atac small nuclear 31, pseudogene Neighboring gene RNA, U6 small nuclear 818, pseudogene Neighboring gene RNA, U6 small nuclear 1298, pseudogene Neighboring gene uncharacterized LOC105369192 Neighboring gene RNA, U6 small nuclear 112, pseudogene Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1K

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Blood group, Junior system
    MedGen: C3280986 OMIM: 614490 GeneReviews: Not available
    Compare labs
    Uric acid concentration, serum, quantitative trait locus 1
    MedGen: C1841837 OMIM: 138900 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population.
    NHGRI GWA Catalog
    Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.
    NHGRI GWA Catalog
    Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.
    NHGRI GWA Catalog
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    NHGRI GWA Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    NHGRI GWA Catalog
    Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.
    NHGRI GWA Catalog
    Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
    NHGRI GWA Catalog
    GWAS of dental caries patterns in the permanent dentition.
    NHGRI GWA Catalog
    Identification of low-frequency variants associated with gout and serum uric acid levels.
    NHGRI GWA Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    NHGRI GWA Catalog
    Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
    NHGRI GWA Catalog
    Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat protein upregulates ABCG2 (BRCP) expression and enhances efflux mediated by this host protein significantly PubMed

    Go to the HIV-1, Human Interaction Database

    • ABC transporters, organism-specific biosystem (from KEGG)
      ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • Abacavir transmembrane transport, organism-specific biosystem (from REACTOME)
      Abacavir transmembrane transport, organism-specific biosystemCytosolic levels of abacavir are determined by the balance of its facilitated diffusion into the cell mediated by organic cation transporters SLC22A1, 2, and 3, and its ATP-dependent efflux from cell...
    • Abacavir transport and metabolism, organism-specific biosystem (from REACTOME)
      Abacavir transport and metabolism, organism-specific biosystemAbacavir is a nucleoside analogue reverse transcriptase inhibitor with antiretroviral activity, widely used in combination with other drugs to treat HIV-1 infection (Yuen et al. 2008). Its uptake acr...
    • Antifolate resistance, organism-specific biosystem (from KEGG)
      Antifolate resistance, organism-specific biosystemSince the 1940s, antifolates have played a pivotal role in drug treatment of malignant, microbial, parasitic and chronic inflammatory diseases. The molecular basis of the anti-proliferative activity ...
    • Antifolate resistance, conserved biosystem (from KEGG)
      Antifolate resistance, conserved biosystemSince the 1940s, antifolates have played a pivotal role in drug treatment of malignant, microbial, parasitic and chronic inflammatory diseases. The molecular basis of the anti-proliferative activity ...
    • Bile secretion, organism-specific biosystem (from KEGG)
      Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Bile secretion, conserved biosystem (from KEGG)
      Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Fluoropyrimidine Activity, organism-specific biosystem (from WikiPathways)
      Fluoropyrimidine Activity, organism-specific biosystemThe main mechanism of 5-FU activation is conversion to fluorodeoxyuridine monophosphate (FdUMP) which inhibits the enzyme thymidylate synthase (TYMS), an important part of the folate-homocysteine cyc...
    • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-1-alpha transcription factor network, organism-specific biosystem
      HIF-1-alpha transcription factor network
    • HIF-2-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-2-alpha transcription factor network, organism-specific biosystem
      HIF-2-alpha transcription factor network
    • Irinotecan Pathway, organism-specific biosystem (from WikiPathways)
      Irinotecan Pathway, organism-specific biosystemThis pathway shows the biotransformation of the chemotherapy prodrug irinotecan to form the active metabolite SN-38, an inhibitor of DNA topoisomerase I. SN-38 is primarily metabolized to the inactiv...
    • Iron uptake and transport, organism-specific biosystem (from REACTOME)
      Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling, organism-specific biosystem (from WikiPathways)
      Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling, organism-specific biosystemPhotodynamic therapy may induce an antioxidant response mediated by NFE2L2.
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC102821

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity, coupled to transmembrane movement of substances TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to cholesterol transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    heme transporter activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    xenobiotic-transporting ATPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
     
    cholesterol efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    drug transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    heme transport IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug TAS
    Traceable Author Statement
    more info
    PubMed 
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    urate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    xenobiotic transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    ATP-binding cassette sub-family G member 2
    Names
    ABC transporter
    ATP-binding cassette transporter G2
    ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
    breast cancer resistance protein
    mitoxantrone resistance-associated protein
    multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2
    placenta specific MDR protein
    placenta-specific ATP-binding cassette transporter
    urate exporter

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032067.2 RefSeqGene

      Range
      77464..146059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001257386.2NP_001244315.1  ATP-binding cassette sub-family G member 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate splice site in the 3' coding region which results in a frameshift. The resulting protein (isoform 2) is shorter and has a distinct and shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AC084732, AC097484
      Consensus CDS
      CCDS58910.1
      UniProtKB/Swiss-Prot
      Q9UNQ0
      Related
      ENSP00000426917.1, OTTHUMP00000219514, ENST00000515655.5, OTTHUMT00000363319
      Conserved Domains (3) summary
      cd03213
      Location:34268
      ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
      COG1131
      Location:60338
      CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
      pfam01061
      Location:380549
      ABC2_membrane; ABC-2 type transporter
    2. NM_001348985.1NP_001335914.1  ATP-binding cassette sub-family G member 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC084732, AC097484
    3. NM_001348986.1NP_001335915.1  ATP-binding cassette sub-family G member 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC084732, AC097484
    4. NM_001348987.1NP_001335916.1  ATP-binding cassette sub-family G member 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC084732, AC097484
    5. NM_001348988.1NP_001335917.1  ATP-binding cassette sub-family G member 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC084732, AC097484
    6. NM_001348989.1NP_001335918.1  ATP-binding cassette sub-family G member 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC084732, AC097484
    7. NM_004827.2NP_004818.2  ATP-binding cassette sub-family G member 2 isoform 1

      See identical proteins and their annotated locations for NP_004818.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC021281, BC092408, BI598784
      Consensus CDS
      CCDS3628.1
      UniProtKB/Swiss-Prot
      Q9UNQ0
      UniProtKB/TrEMBL
      A0A024RDD4
      Related
      ENSP00000237612.3, OTTHUMP00000161176, ENST00000237612.7, OTTHUMT00000253051
      Conserved Domains (3) summary
      cd03213
      Location:34268
      ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
      TIGR00955
      Location:55649
      3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
      pfam01061
      Location:380584
      ABC2_membrane; ABC-2 type transporter

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      88090264..88231417 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263355.3XP_005263412.1  ATP-binding cassette sub-family G member 2 isoform X1

      See identical proteins and their annotated locations for XP_005263412.1

      UniProtKB/Swiss-Prot
      Q9UNQ0
      UniProtKB/TrEMBL
      A0A024RDD4
      Conserved Domains (3) summary
      cd03213
      Location:34268
      ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
      TIGR00955
      Location:55649
      3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
      pfam01061
      Location:380584
      ABC2_membrane; ABC-2 type transporter
    2. XM_011532420.2XP_011530722.1  ATP-binding cassette sub-family G member 2 isoform X1

      See identical proteins and their annotated locations for XP_011530722.1

      UniProtKB/Swiss-Prot
      Q9UNQ0
      UniProtKB/TrEMBL
      A0A024RDD4
      Conserved Domains (3) summary
      cd03213
      Location:34268
      ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
      TIGR00955
      Location:55649
      3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
      pfam01061
      Location:380584
      ABC2_membrane; ABC-2 type transporter
    3. XM_017008853.1XP_016864342.1  ATP-binding cassette sub-family G member 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9UNQ0
      UniProtKB/TrEMBL
      A0A024RDD4
      Conserved Domains (3) summary
      cd03213
      Location:34268
      ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
      TIGR00955
      Location:55649
      3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
      pfam01061
      Location:380584
      ABC2_membrane; ABC-2 type transporter
    4. XM_017008852.1XP_016864341.1  ATP-binding cassette sub-family G member 2 isoform X2

      Conserved Domains (3) summary
      cd03213
      Location:34268
      ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
      TIGR00955
      Location:55647
      3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
      pfam01061
      Location:378582
      ABC2_membrane; ABC-2 type transporter
    5. XM_005263354.3XP_005263411.1  ATP-binding cassette sub-family G member 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9UNQ0
      UniProtKB/TrEMBL
      A0A024RDD4
      Conserved Domains (3) summary
      cd03213
      Location:34268
      ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
      TIGR00955
      Location:55649
      3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
      pfam01061
      Location:380584
      ABC2_membrane; ABC-2 type transporter
    6. XM_005263356.3XP_005263413.1  ATP-binding cassette sub-family G member 2 isoform X2

      Conserved Domains (3) summary
      cd03213
      Location:34268
      ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily
      TIGR00955
      Location:55647
      3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
      pfam01061
      Location:378582
      ABC2_membrane; ABC-2 type transporter

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      88988243..89128985 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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