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

Gene ID: 9429, updated on 13-Nov-2022

Summary

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; AllianceGenome:HGNC:74
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; CDw388; 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]
Expression
Biased expression in small intestine (RPKM 33.2), duodenum (RPKM 16.6) and 12 other tissues See more
Orthologs
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Genomic context

See ABCG2 in Genome Data Viewer
Location:
4q22.1
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (88090264..88231626, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (91416761..91562592, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (89011416..89152778, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U1 small nuclear 36, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5607 Neighboring gene polycystin 2, transient receptor potential cation channel Neighboring gene uncharacterized LOC124900867 Neighboring gene Sharpr-MPRA regulatory region 2987 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 RNA, U6 small nuclear 112, pseudogene Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1K Neighboring gene PPM1K divergent transcript

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

EBI GWAS Catalog

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC102821

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ABC-type xenobiotic transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ATPase-coupled transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables biotin transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables efflux transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables efflux transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables efflux transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables organic anion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables riboflavin transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables riboflavin transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables urate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables xenobiotic transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in biotin transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular detoxification IDA
Inferred from Direct Assay
more info
PubMed 
involved_in export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lipid transport IEA
Inferred from Electronic Annotation
more info
 
involved_in organic anion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in renal urate salt excretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in riboflavin transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in transepithelial transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
involved_in urate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in urate transport IEA
Inferred from Electronic Annotation
more info
 
involved_in xenobiotic transport across blood-brain barrier IC
Inferred by Curator
more info
 
involved_in xenobiotic transport across blood-brain barrier IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in external side of apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
broad substrate specificity ATP-binding cassette transporter ABCG2
Names
ABC transporter
ATP-binding cassette transporter G2
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
breast cancer resistance protein
broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 1 (Junior blood group)
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
NP_001244315.1
NP_001335914.1
NP_001335915.1
NP_001335916.1
NP_001335917.1
NP_001335918.1
NP_004818.2
XP_011530722.1
XP_016864341.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    77684..146054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_823

mRNA and Protein(s)

  1. NM_001257386.2NP_001244315.1  broad substrate specificity ATP-binding cassette transporter ABCG2 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, ENST00000515655.5
    Conserved Domains (1) summary
    TIGR00955
    Location:55550
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
  2. NM_001348985.1NP_001335914.1  broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC084732, AC097484
    Consensus CDS
    CCDS3628.1
    UniProtKB/Swiss-Prot
    Q9NUS0
    UniProtKB/TrEMBL
    A1LUE4
    Related
    ENSP00000498246.1, ENST00000650821.1
    Conserved Domains (1) summary
    TIGR00955
    Location:55649
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
  3. NM_001348986.1NP_001335915.1  broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC084732, AC097484
    Consensus CDS
    CCDS3628.1
    UniProtKB/Swiss-Prot
    Q9NUS0
    UniProtKB/TrEMBL
    A1LUE4
    Conserved Domains (1) summary
    TIGR00955
    Location:55649
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
  4. NM_001348987.1NP_001335916.1  broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC084732, AC097484
    Conserved Domains (1) summary
    TIGR00955
    Location:55647
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
  5. NM_001348988.1NP_001335917.1  broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC084732, AC097484
    Consensus CDS
    CCDS3628.1
    UniProtKB/Swiss-Prot
    Q9NUS0
    UniProtKB/TrEMBL
    A1LUE4
    Conserved Domains (1) summary
    TIGR00955
    Location:55649
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
  6. NM_001348989.2NP_001335918.1  broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC084732, AC097484
    Consensus CDS
    CCDS3628.1
    UniProtKB/Swiss-Prot
    Q9NUS0
    UniProtKB/TrEMBL
    A1LUE4
    Conserved Domains (1) summary
    TIGR00955
    Location:55649
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
  7. NM_004827.3NP_004818.2  broad substrate specificity ATP-binding cassette transporter ABCG2 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
    Q9NUS0, Q9UNQ0
    UniProtKB/TrEMBL
    A0A024RDD4, A1LUE4
    Related
    ENSP00000237612.3, ENST00000237612.8
    Conserved Domains (1) summary
    TIGR00955
    Location:55649
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    88090264..88231626 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532420.4XP_011530722.1  broad substrate specificity ATP-binding cassette transporter ABCG2 isoform X1

    See identical proteins and their annotated locations for XP_011530722.1

    UniProtKB/Swiss-Prot
    Q9NUS0, Q9UNQ0
    UniProtKB/TrEMBL
    A0A024RDD4, A1LUE4
    Conserved Domains (1) summary
    TIGR00955
    Location:55649
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
  2. XM_017008852.3XP_016864341.1  broad substrate specificity ATP-binding cassette transporter ABCG2 isoform X2

    Conserved Domains (1) summary
    TIGR00955
    Location:55647
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    91416761..91562592 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)