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

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
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]
Expression: Biased expression in small intestine (RPKM 33.2), duodenum (RPKM 16.6) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q22.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	4	NC_000004.12 (88090264..88231626, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (89011416..89152778, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Potential role of the ABCG2-Q141K polymorphism in type 2 diabetes.
Title: Potential role of the ABCG2-Q141K polymorphism in type 2 diabetes.
Integrating disease and drug-related phenotypes for improved identification of pharmacogenomic variants.
Title: Integrating disease and drug-related phenotypes for improved identification of pharmacogenomic variants.
Porphyrin accumulation in humans with common dysfunctional variants of ABCG2, a porphyrin transporter: potential association with acquired photosensitivity.
Title: Porphyrin accumulation in humans with common dysfunctional variants of ABCG2, a porphyrin transporter: potential association with acquired photosensitivity.
Epithelial cell adhesion molecule promotes breast cancer resistance protein-mediated multidrug resistance in breast cancer by inducing partial epithelial-mesenchymal transition.
Title: Epithelial cell adhesion molecule promotes breast cancer resistance protein-mediated multidrug resistance in breast cancer by inducing partial epithelial-mesenchymal transition.
Abundance of P-glycoprotein and Breast Cancer Resistance Protein Measured by Targeted Proteomics in Human Epileptogenic Brain Tissue.
Title: Abundance of <i>P</i>-glycoprotein and Breast Cancer Resistance Protein Measured by Targeted Proteomics in Human Epileptogenic Brain Tissue.
A Phenylfurocoumarin Derivative Reverses ABCG2-Mediated Multidrug Resistance In Vitro and In Vivo.
Title: A Phenylfurocoumarin Derivative Reverses ABCG2-Mediated Multidrug Resistance In Vitro and In Vivo.
Good response to methotrexate is associated with a decrease in the gene expression of ABCG2, a drug transporter, in patients with rheumatoid arthritis.
Title: Good response to methotrexate is associated with a decrease in the gene expression of ABCG2, a drug transporter, in patients with rheumatoid arthritis.
ABCB1, ABCG2 and CYP2D6 polymorphism effects on disposition and response to long-acting risperidone.
Title: ABCB1, ABCG2 and CYP2D6 polymorphism effects on disposition and response to long-acting risperidone.
The inhibition of ABCB1/MDR1 or ABCG2/BCRP enables doxorubicin to eliminate liver cancer stem cells.
Title: The inhibition of ABCB1/MDR1 or ABCG2/BCRP enables doxorubicin to eliminate liver cancer stem cells.
Friend or foe: ABCG2, ABCC1 and ABCB1 expression in triple-negative breast cancer.
Title: Friend or foe: ABCG2, ABCC1 and ABCB1 expression in triple-negative breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (779)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Blood group, Junior system MedGen: C3280986 OMIM: 614490 GeneReviews: Not available	not available
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 EBI GWAS CatalogPubMed
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of dental caries patterns in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of low-frequency variants associated with gout and serum uric acid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-24753 (e-PCR)
- UniSTS:64270

RH18379 (e-PCR)
- UniSTS:62742

STS-AA001604 (e-PCR)
- UniSTS:47154

SHGC-59795 (e-PCR)
- UniSTS:64580

SHGC-67418 (e-PCR)
- UniSTS:66120

ABCG2_1993 (e-PCR)
- UniSTS:280425

ABCG2 (e-PCR)
- UniSTS:503454

D4S2623 (e-PCR), detects polymorphism
- UniSTS:3249

ABCG2 (e-PCR)
- UniSTS:519123

Homology

Homologs of the ABCG2 gene: The ABCG2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 242 organisms have orthologs with human gene ABCG2
Orthologs

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	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	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	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	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
located_in integral component of membrane	IEA Inferred from Electronic Annotation more info
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

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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; 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

EC 7.6.2.2

NP_001335914.1

EC 7.6.2.2

NP_001335915.1

EC 7.6.2.2

NP_001335916.1

EC 7.6.2.2

NP_001335917.1

EC 7.6.2.2

NP_001335918.1

EC 7.6.2.2

NP_004818.2

EC 7.6.2.2

XP_005263412.1

EC 7.6.2.2

XP_011530722.1

EC 7.6.2.2

XP_016864341.1

EC 7.6.2.2

NCBI Reference Sequences (RefSeq)

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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

NG_032067.2 RefSeqGene

Range

77684..146054

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_823

mRNA and Protein(s)

NM_001257386.2 → NP_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:55 → 550

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
NM_001348985.1 → NP_001335914.1 broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 1

Status: REVIEWED

Source sequence(s)

AC084732, AC097484

Consensus CDS

CCDS3628.1

Related

ENSP00000498246.1, ENST00000650821.1

Conserved Domains (1) summary

TIGR00955
Location:55 → 649

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
NM_001348986.1 → NP_001335915.1 broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 1

Status: REVIEWED

Source sequence(s)

AC084732, AC097484

Consensus CDS

CCDS3628.1

Conserved Domains (1) summary

TIGR00955
Location:55 → 649

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
NM_001348987.1 → NP_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:55 → 647

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
NM_001348988.1 → NP_001335917.1 broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 1

Status: REVIEWED

Source sequence(s)

AC084732, AC097484

Consensus CDS

CCDS3628.1

Conserved Domains (1) summary

TIGR00955
Location:55 → 649

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
NM_001348989.2 → NP_001335918.1 broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 1

Status: REVIEWED

Source sequence(s)

AC084732, AC097484

Consensus CDS

CCDS3628.1

Conserved Domains (1) summary

TIGR00955
Location:55 → 649

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
NM_004827.3 → NP_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

Q9UNQ0

UniProtKB/TrEMBL

A0A024RDD4

Related

ENSP00000237612.3, ENST00000237612.8

Conserved Domains (1) summary

TIGR00955
Location:55 → 649

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p13 Primary Assembly

Range

88090264..88231626 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005263355.4 → XP_005263412.1 broad substrate specificity ATP-binding cassette transporter ABCG2 isoform X1

See identical proteins and their annotated locations for XP_005263412.1

UniProtKB/Swiss-Prot

Q9UNQ0

UniProtKB/TrEMBL

A0A024RDD4

Conserved Domains (1) summary

TIGR00955
Location:55 → 649

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
XM_011532420.3 → XP_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

Q9UNQ0

UniProtKB/TrEMBL

A0A024RDD4

Conserved Domains (1) summary

TIGR00955
Location:55 → 649

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
XM_017008852.2 → XP_016864341.1 broad substrate specificity ATP-binding cassette transporter ABCG2 isoform X2

Conserved Domains (1) summary

TIGR00955
Location:55 → 647

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein