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

Gene ID: 9429, updated on 6-Sep-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
    Conserved Domains (1) summary
    cl28180
    Location:55649
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
  3. NM_001348986.1NP_001335915.1  ATP-binding cassette sub-family G member 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC084732, AC097484
    Conserved Domains (1) summary
    cl28180
    Location:55649
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
  4. NM_001348987.1NP_001335916.1  ATP-binding cassette sub-family G member 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC084732, AC097484
    Conserved Domains (1) summary
    cl28180
    Location:55647
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
  5. NM_001348988.1NP_001335917.1  ATP-binding cassette sub-family G member 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC084732, AC097484
    Conserved Domains (1) summary
    cl28180
    Location:55649
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
  6. NM_001348989.1NP_001335918.1  ATP-binding cassette sub-family G member 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC084732, AC097484
    Conserved Domains (1) summary
    cl28180
    Location:55649
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
  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 (1) summary
    cl28180
    Location:55649
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional

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 (1) summary
    cl28180
    Location:55649
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
  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 (1) summary
    cl28180
    Location:55649
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
  3. XM_017008853.1XP_016864342.1  ATP-binding cassette sub-family G member 2 isoform X1

    Conserved Domains (1) summary
    cl28180
    Location:55649
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
  4. XM_017008852.1XP_016864341.1  ATP-binding cassette sub-family G member 2 isoform X2

    Conserved Domains (1) summary
    cl28180
    Location:55647
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
  5. XM_005263354.3XP_005263411.1  ATP-binding cassette sub-family G member 2 isoform X1

    Conserved Domains (1) summary
    cl28180
    Location:55649
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
  6. XM_005263356.3XP_005263413.1  ATP-binding cassette sub-family G member 2 isoform X2

    Conserved Domains (1) summary
    cl28180
    Location:55647
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional

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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