ABCG2 Chromosome 4
ATP binding cassette subfamily G member 2 (JR blood group)
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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
RS2231142
drug response
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
Drug Response
RS140207606
association
BLOOD GROUP, JUNIOR SYSTEM, BLOOD GROUP
Health Risk
RS72552713
association
BLOOD GROUP, JUNIOR SYSTEM, URIC ACID CONCENTRATION
Health Risk
RS387906870
Conflicting classifications of pathogenicity
BLOOD GROUP, JUNIOR SYSTEM, URIC ACID CONCENTRATION
Health Risk
RS2231137
Likely benign; Affects; association
BLOOD GROUP, JUNIOR SYSTEM, URIC ACID CONCENTRATION
Health Risk
Related Biomarkers (1)
Urate
monitor
strong
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 |