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; 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: mouse all

Genomic context

See ABCG2 in Genome Data Viewer Map Viewer

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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 Jun 15 11:32:44 2016

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Patients carrying the rs2231142-A allele had a higher frequency of hyperuricemia than those with the rs2231142-CC allele. The rs2231142 SNP is associated with serum uric acid levels and hyperuricemia in Taiwanese patients and it occurs predominantly in male or obese patients. Hyperuricemia might be controlled differently by sex and obesity.
Title: Association of ABCG2 rs2231142-A allele and serum uric acid levels in male and obese individuals in a Han Taiwanese population.
ABCG2 rs2231142 predicts poor response to allopurinol in gout patients.
Title: ABCG2 loss-of-function polymorphism predicts poor response to allopurinol in patients with gout.
BCRP and MRP2 can mediate elimination of ochratoxin A from cells, reducing OTA toxicity.
Title: Ochratoxin A transport by the human breast cancer resistance protein (BCRP), multidrug resistance protein 2 (MRP2), and organic anion-transporting polypeptides 1A2, 1B1 and 2B1.
Patients with active rheumatoid arthritis have an increased function of ABCB1 and ABCG2, and disease activity is the main determinant of this phenomena.
Title: Rheumatoid Arthritis Disease Activity Is Determinant for ABCB1 and ABCG2 Drug-Efflux Transporters Function.
The results indicate that human BCRP and not human P-gp is involved in benzylpenicillin transport.
Title: Role of Human Breast Cancer Related Protein versus P-Glycoprotein as an Efflux Transporter for Benzylpenicillin: Potential Importance at the Blood-Brain Barrier.
ABCG2 was further demonstrated to contribute cisplatin resistance in ALDHA1(+) colorectal cancer stem cells and can be regulated by miR-199a/b.
Title: Upregulation of miR-199a/b contributes to cisplatin resistance via Wnt/β-catenin-ABCG2 signaling pathway in ALDHA1<sup>+</sup> colorectal cancer stem cells.
altered BCRP expression and function by ammonia and H2 O2 were restored by ROS scavenger N-acetylcysteine and ERK1/2 inhibitor U0126
Title: Acute liver failure impairs function and expression of breast cancer-resistant protein (BCRP) at rat blood-brain barrier partly via ammonia-ROS-ERK1/2 activation.
The results showed high ABCB1 and ABCG2 gene levels, which were 4.5 and 2.3 times the levels of healthy donors, respectively.
Title: Clinical significance of the ABCB1 and ABCG2 gene expression levels in acute lymphoblastic leukemia.
With our approach for single-cell analysis, we observed SP and NSP cells at both ends of a transporter activity continuum, demonstrating that features of transporter activity as well as DNA content are determinants of SP/NSP identity.
Title: Kinetic Modeling of ABCG2 Transporter Heterogeneity: A Quantitative, Single-Cell Analysis of the Side Population Assay.
Cabozantinib inhibits the ABCG2 transporter function and consequently enhances the effect of the antineoplastic agents that are substrates of ABCG2. Cabozantinib may be a useful agent in anticancer treatment regimens for patients who are resistant to ABCG2 substrate drugs.
Title: Modulating the function of ATP-binding cassette subfamily G member 2 (ABCG2) with inhibitor cabozantinib.

Submit: New GeneRIF Correction See all GeneRIFs (597)

Phenotypes

Go to the top of the page Help

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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 BioSystems

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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: 162 organisms have orthologs with human gene ABCG2
The Hierarchical Catalog of Orthologs

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

General protein information

Go to the top of the page Help

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

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

77464..146059

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001257386.2 → NP_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:34 → 268

ABCG_EPDR; Eye pigment and drug resistance transporter subfamily G of the ATP-binding cassette superfamily

COG1131
Location:60 → 338

CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]

pfam01061
Location:380 → 549

ABC2_membrane; ABC-2 type transporter
NM_001348985.1 → NP_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:55 → 649

PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
NM_001348986.1 → NP_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:55 → 649

PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
NM_001348987.1 → NP_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:55 → 647

PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
NM_001348988.1 → NP_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:55 → 649

PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
NM_001348989.1 → NP_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:55 → 649

PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
NM_004827.2 → NP_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:55 → 649

PRK10535; macrolide transporter ATP-binding /permease protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

Reference GRCh38.p7 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p7 Primary Assembly

Range

88090264..88231417 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005263355.3 → XP_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:55 → 649

PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
XM_011532420.2 → XP_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:55 → 649

PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
XM_017008853.1 → XP_016864342.1 ATP-binding cassette sub-family G member 2 isoform X1

Conserved Domains (1) summary

cl28180
Location:55 → 649

PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
XM_017008852.1 → XP_016864341.1 ATP-binding cassette sub-family G member 2 isoform X2

Conserved Domains (1) summary

cl28180
Location:55 → 647

PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
XM_005263354.3 → XP_005263411.1 ATP-binding cassette sub-family G member 2 isoform X1

Conserved Domains (1) summary

cl28180
Location:55 → 649

PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
XM_005263356.3 → XP_005263413.1 ATP-binding cassette sub-family G member 2 isoform X2

Conserved Domains (1) summary

cl28180
Location:55 → 647

PRK10535; macrolide transporter ATP-binding /permease protein; Provisional