Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

ATP-binding cassette sub-family G member 2

The ABCG2 gene encodes a transport protein that is involved in metabolism of several drugs. Also it is reported to be involved in the development of gout and hyperurecemia.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Gout susceptibility 1
ABCG2

References:

1.

Sims-Mourtada J et. al. (2007) Sonic Hedgehog promotes multiple drug resistance by regulation of drug transport.

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2.

Allikmets R et. al. (1998) A human placenta-specific ATP-binding cassette gene (ABCP) on chromosome 4q22 that is involved in multidrug resistance.

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3.

Doyle LA et. al. (1998) A multidrug resistance transporter from human MCF-7 breast cancer cells.

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4.

Miyake K et. al. (1999) Molecular cloning of cDNAs which are highly overexpressed in mitoxantrone-resistant cells: demonstration of homology to ABC transport genes.

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5.

Ozvegy C et. al. (2001) Functional characterization of the human multidrug transporter, ABCG2, expressed in insect cells.

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6.

Bailey-Dell KJ et. al. (2001) Promoter characterization and genomic organization of the human breast cancer resistance protein (ATP-binding cassette transporter G2) gene.

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7.

Eisenblätter T et. al. (2002) A new multidrug resistance protein at the blood-brain barrier.

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8.

Ozvegy C et. al. (2002) Characterization of drug transport, ATP hydrolysis, and nucleotide trapping by the human ABCG2 multidrug transporter. Modulation of substrate specificity by a point mutation.

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9.

Jonker JW et. al. (2002) The breast cancer resistance protein protects against a major chlorophyll-derived dietary phototoxin and protoporphyria.

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10.

Krishnamurthy P et. al. (2004) The stem cell marker Bcrp/ABCG2 enhances hypoxic cell survival through interactions with heme.

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11.

Jonker JW et. al. (2005) The breast cancer resistance protein BCRP (ABCG2) concentrates drugs and carcinogenic xenotoxins into milk.

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12.

Maekawa K et. al. (2006) Genetic variation and haplotype structure of the ABC transporter gene ABCG2 in a Japanese population.

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13.

Dehghan A et. al. (2008) Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.

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14.

Woodward OM et. al. (2009) Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout.

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15.

Matsuo H et. al. (2009) Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population.

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16.

Wang F et. al. (2010) hsa-miR-520h downregulates ABCG2 in pancreatic cancer cells to inhibit migration, invasion, and side populations.

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17.

Saison C et. al. (2012) Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior.

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18.

Zelinski T et. al. (2012) ABCG2 null alleles define the Jr(a-) blood group phenotype.

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Update: Sept. 26, 2018