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ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) [ Homo sapiens (human) ]

Gene ID: 9429, updated on 7-Dec-2014
Official Symbol
ABCG2provided by HGNC
Official Full Name
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)provided by HGNC
Primary source
HGNC:HGNC:74
See related
Ensembl:ENSG00000118777; HPRD:04783; 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; 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]
See ABCG2 in Epigenomics, MapViewer
Location:
4q22
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 secreted phosphoprotein 1 Neighboring gene polycystic kidney disease 2 (autosomal dominant) Neighboring gene ribosomal protein L31 pseudogene 24 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent, 1K Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase family member 6

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
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
  • 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...
  • 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...
  • 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 
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
ATP catabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular iron ion homeostasis TAS
Traceable Author Statement
more info
 
drug transmembrane transport TAS
Traceable Author Statement
more info
 
heme transport TAS
Traceable Author Statement
more info
 
response to drug TAS
Traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
urate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
xenobiotic transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
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
 
Preferred Names
ATP-binding cassette sub-family G member 2
Names
ATP-binding cassette sub-family G member 2
urate exporter
ABC transporter
placenta specific MDR protein
breast cancer resistance protein
ATP-binding cassette transporter G2
mitoxantrone resistance-associated protein
placenta-specific ATP-binding cassette transporter
multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2

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 

    Range
    5001..146059
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257386.1NP_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)
    AC097484, BC092408
    Consensus CDS
    CCDS58910.1
    UniProtKB/Swiss-Prot
    Q9UNQ0
    Related
    ENSP00000426917, OTTHUMP00000219514, ENST00000515655, 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:375549
    ABC2_membrane; ABC-2 type transporter
  2. NM_004827.2NP_004818.2  ATP-binding cassette sub-family G member 2 isoform 1

    See proteins identical to NP_004818.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    BC021281, BC092408, BI598784
    Consensus CDS
    CCDS3628.1
    UniProtKB/TrEMBL
    A0A024RDD4
    UniProtKB/Swiss-Prot
    Q9UNQ0
    Related
    ENSP00000237612, OTTHUMP00000161176, ENST00000237612, 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:375586
    ABC2_membrane; ABC-2 type transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

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

mRNA and Protein(s)

  1. XM_005263355.1XP_005263412.1  

    See proteins identical to XP_005263412.1

    UniProtKB/TrEMBL
    A0A024RDD4
    UniProtKB/Swiss-Prot
    Q9UNQ0
    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:375586
    ABC2_membrane; ABC-2 type transporter
  2. XM_005263354.1XP_005263411.1  

    See proteins identical to XP_005263411.1

    UniProtKB/TrEMBL
    A0A024RDD4
    UniProtKB/Swiss-Prot
    Q9UNQ0
    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:375586
    ABC2_membrane; ABC-2 type transporter
  3. XM_005263356.1XP_005263413.1  

    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:373584
    ABC2_membrane; ABC-2 type transporter

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

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

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    84757887..84903974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)