Gene: ABCG2

Alternate names for this Gene: ABC15|ABCP|BCRP|BCRP1|BMDP|CD338|CDw338|EST157481|GOUT1|MRX|MXR|MXR-1|MXR1|UAQTL1

Gene 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q22.1

Description of this Gene: ATP binding cassette subfamily G member 2 (Junior blood group)

Type of Gene: protein-coding

rs10009618 in ABCG2 gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

PMID 25676789 2015 Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response.

PMID 27899376 2017 GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

PMID 18834626 2008 Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.

PMID 25967671 2015 Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese.

PMID 29453348 2018 ABCG2 contributes to the development of gout and hyperuricemia in a genome-wide association study.

PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

PMID 30924126 2019 Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol.

PMID 21983786 2011 Identification of low-frequency variants associated with gout and serum uric acid levels.

PMID 30899057 2019 Integrative Genome-Wide Association Studies of eQTL and GWAS Data for Gout Disease Susceptibility.

PMID 30181573 2018 Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease.

rs1481012 in ABCG2 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3114018 in ABCG2 gene and Dental caries PMID 23064961 2013 GWAS of dental caries patterns in the permanent dentition.

rs2725261 in ABCG2 gene and Glomerular Filtration Rate PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs10009618 in ABCG2 gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

PMID 21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

PMID 25676789 2015 Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response.

PMID 27899376 2017 GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

PMID 30924126 2019 Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol.

PMID 29453348 2018 ABCG2 contributes to the development of gout and hyperuricemia in a genome-wide association study.

PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

PMID 25967671 2015 Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese.

PMID 21983786 2011 Identification of low-frequency variants associated with gout and serum uric acid levels.

PMID 18834626 2008 Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.

PMID 30181573 2018 Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease.

PMID 30899057 2019 Integrative Genome-Wide Association Studies of eQTL and GWAS Data for Gout Disease Susceptibility.

rs199897813 in ABCG2 gene and Hyperuricemia PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

PMID 29453348 2018 Whereas the rs2231142 in ABCG2 gene had significant associations between gout and controls, between gout and hyperuricemia, and between hyperuricemia and controls (all p-values < 10<sup>-7</sup>), and the ORs were 4.34, 3.37 and 2.15 (all p-values < 0.001) after adjustment of potential confounders, respectively.

rs2231142 in ABCG2 gene and Kidney Failure, Chronic PMID 30181573 2018 Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease.

rs1481014 in ABCG2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs10009618 in ABCG2 gene and Uric acid measurement (procedure) PMID 19503597 2009 Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

PMID 25676789 2015 Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response.

PMID 25811787 2015 Modulation of genetic associations with serum urate levels by body-mass-index in humans.

PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

PMID 28776340 2017 ABCG2 Polymorphism Is Associated with Hyperuricemia in a Study of a Community-Based Korean Cohort.

PMID 30993211 2019 Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.

PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

PMID 19503597 2009 We found that the minor allele for rs734553 in SLC2A9 has greater influence in lowering uric acid levels in women and the minor allele of rs2231142 in ABCG2 elevates uric acid levels more strongly in men compared to women.

PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 18834626 2008 Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.

PMID 30181573 2018 Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease.

PMID 30305239 2019 Genetic contributors to serum uric acid levels in Mexicans and their effect on premature coronary artery disease.

PMID 29558500 2018 Genome-wide association analysis identifies multiple loci associated with kidney disease-related traits in Korean populations.

PMID 30924126 2019 Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol.

PMID 26902266 2016 Genome wide association study of uric acid in Indian population and interaction of identified variants with Type 2 diabetes.

PMID 31207883 2019 Influence of Genetic and Non-Genetic Risk Factors for Serum Uric Acid Levels and Hyperuricemia in Mexicans.

PMID 24513273 2014 The two independent SNPs rs11722228 and rs2231142 explained 1.03% and 1.09% of the total variation of UA levels, respectively.

PMID 21983786 2011 Identification of low-frequency variants associated with gout and serum uric acid levels.

PMID 24513273 2014 A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

rs1481012 in ABCG2 gene and response to statin PMID 22331829 2012 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.