ABCG2 Chromosome 4

ATP binding cassette subfamily G member 2 (JR blood group)
7 variants 1 Drug Response 4 Health Risk 2 Trait

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What This Gene Does
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]
Gene Info
Gene Group
"Blood group antigens|CD molecules|ATP binding cassette subfamily G"
Locus Type
gene with protein product
Location
4q22.1
Ensembl
ENSG00000118777
Associated Conditions (10)
URIC ACID CONCENTRATION
SERUM
QUANTITATIVE TRAIT LOCUS 1
BLOOD GROUP
JUNIOR SYSTEM
rosuvastatin response - Efficacy
Gemcitabine response
rosuvastatin response - Metabolism/PK
ABCG2-related disorder
Hepatocellular carcinoma
Key Variants
Related Biomarkers (1)
All Variants (7)
RSID Category Clinical Significance Conditions
RS2231142 Drug Response drug response URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
RS140207606 Health Risk association BLOOD GROUP, JUNIOR SYSTEM, BLOOD GROUP
RS72552713 Health Risk association BLOOD GROUP, JUNIOR SYSTEM, URIC ACID CONCENTRATION
RS387906870 Health Risk Conflicting classifications of pathogenicity BLOOD GROUP, JUNIOR SYSTEM, URIC ACID CONCENTRATION
RS2231137 Health Risk Likely benign; Affects; association BLOOD GROUP, JUNIOR SYSTEM, URIC ACID CONCENTRATION
RS200190472 Trait Affects BLOOD GROUP, JUNIOR SYSTEM, BLOOD GROUP
RS387906869 Trait Affects BLOOD GROUP, JUNIOR SYSTEM, BLOOD GROUP
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