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
109.20210226	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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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?

Glucose, Fructose, and Urate Transporters in the Choroid Plexus Epithelium.
Title: Glucose, Fructose, and Urate Transporters in the Choroid Plexus Epithelium.
Systematic genetic analysis of early-onset gout: ABCG2 is the only associated locus.
Title: Systematic genetic analysis of early-onset gout: ABCG2 is the only associated locus.
Pleiotropic effect of the ABCG2 gene in gout: involvement in serum urate levels and progression from hyperuricemia to gout.
Title: Pleiotropic effect of the ABCG2 gene in gout: involvement in serum urate levels and progression from hyperuricemia to gout.
The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis.
Title: The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis.
Hsa_Circ_0007841 Enhances Multiple Myeloma Chemotherapy Resistance Through Upregulating ABCG2.
Title: Hsa_Circ_0007841 Enhances Multiple Myeloma Chemotherapy Resistance Through Upregulating ABCG2.
Cetuximab enhances the efficiency of irinotecan through simultaneously inhibiting the MAPK signaling and ABCG2 in colorectal cancer cells.
Title: Cetuximab enhances the efficiency of irinotecan through simultaneously inhibiting the MAPK signaling and ABCG2 in colorectal cancer cells.
Epistatic interaction between PKD2 and ABCG2 influences the pathogenesis of hyperuricemia and gout.
Title: Epistatic interaction between PKD2 and ABCG2 influences the pathogenesis of hyperuricemia and gout.
Enhancing Brain Retention of a KIF11 Inhibitor Significantly Improves its Efficacy in a Mouse Model of Glioblastoma.
Title: Enhancing Brain Retention of a KIF11 Inhibitor Significantly Improves its Efficacy in a Mouse Model of Glioblastoma.
Disruption of the Unique ABCG-Family NBD:NBD Interface Impacts Both Drug Transport and ATP Hydrolysis.
Title: Disruption of the Unique ABCG-Family NBD:NBD Interface Impacts Both Drug Transport and ATP Hydrolysis.
Influence of OATP1B1 and BCRP polymorphisms on the pharmacokinetics and pharmacodynamics of rosuvastatin in elderly and young Korean subjects.
Title: Influence of OATP1B1 and BCRP polymorphisms on the pharmacokinetics and pharmacodynamics of rosuvastatin in elderly and young Korean subjects.

Submit: New GeneRIF Correction See all GeneRIFs (742)

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
A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population. GeneReviews: Not available
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. GeneReviews: Not available
Blood group, Junior system MedGen: C3280986 OMIM: 614490 GeneReviews: Not available	not available
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. GeneReviews: Not available
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. GeneReviews: Not available
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available
Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia. GeneReviews: Not available
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. GeneReviews: Not available
GWAS of dental caries patterns in the permanent dentition. GeneReviews: Not available
Identification of low-frequency variants associated with gout and serum uric acid levels. GeneReviews: Not available
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. GeneReviews: Not available
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. GeneReviews: Not available
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. GeneReviews: Not available
Uric acid concentration, serum, quantitative trait locus 1 MedGen: C1841837 OMIM: 138900 GeneReviews: Not available	Compare labs

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: 216 organisms have orthologs with human gene ABCG2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ABC-type xenobiotic transporter activity	IDA Inferred from Direct Assay more info	PubMed
ATP binding	IEA Inferred from Electronic Annotation more info
ATPase-coupled transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
biotin transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
efflux transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
efflux transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
organic anion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
riboflavin transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
urate transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
xenobiotic transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
biotin transport	ISS Inferred from Sequence or Structural Similarity more info
cellular detoxification	IDA Inferred from Direct Assay more info	PubMed
cellular iron ion homeostasis	TAS Traceable Author Statement more info
export across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
organic anion transport	ISS Inferred from Sequence or Structural Similarity more info
riboflavin transport	IDA Inferred from Direct Assay more info	PubMed
transepithelial transport	IDA Inferred from Direct Assay more info	PubMed
transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
urate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
urate salt excretion	IMP Inferred from Mutant Phenotype more info	PubMed
urate transport	IEA Inferred from Electronic Annotation more info
xenobiotic transport across blood-brain barrier	IC Inferred by Curator more info
xenobiotic transport across blood-brain barrier	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
brush border membrane	IDA Inferred from Direct Assay more info	PubMed
external side of apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
integral component of membrane	IEA Inferred from Electronic Annotation more info
membrane raft	IDA Inferred from Direct Assay more info	PubMed
mitochondrial membrane	IEA Inferred from Electronic Annotation more info
nucleoplasm	IDA Inferred from Direct Assay more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
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 109.20210226

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