ABCG2: ATP Binding Cassette Subfamily G Member 2
A key efflux transporter in drug resistance and urate homeostasis
Gene Information Card
| Symbol | ABCG2 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily G Member 2 (Junior blood group) |
| Gene Type | protein-coding |
| Chromosomal Location | 4q22.1 |
| NCBI Gene ID | 9429 ncbi.nlm.nih.gov/gene/9429 |
| Ensembl ID | ENSG00000118777 |
| UniProt ID | Q9UNQ0 |
| OMIM ID | 603756 |
| HGNC ID | 74 |
| Aliases | BCRP, ABCP, MXR, CD338, BCRP1, UAQTL1 |
Description
ABCG2 encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The protein functions as a xenobiotic efflux pump, limiting oral bioavailability and mediating multidrug resistance in cancer. It also transports urate and is a key regulator of serum uric acid levels. Polymorphisms in ABCG2 are associated with gout and altered drug pharmacokinetics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gout | Loss-of-function variants reduce urate efflux, leading to hyperuricemia | OMIM 603756; PMID 18624509 |
| Drug resistance (cancer) | Overexpression of ABCG2 effluxes chemotherapeutics (e.g., mitoxantrone, topotecan) | PMID 10882715; COSMIC |
| Junior blood group system | Null alleles cause Jr(a-) phenotype | OMIM 603756; PMID 22258506 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.8 | Low |
| Small intestine | 12.5 | High |
| Kidney | 3.2 | Medium |
| Placenta | 18.1 | High |
| Breast | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 | 0.2 | Low expression (parental) |
| MCF7/MX | 45.6 | Mitoxantrone-resistant; high ABCG2 |
| HEK293 | 1.1 | Endogenous level |
| Caco-2 | 8.3 | Intestinal model; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Q141K (rs2231142) | Missense | ~11% (East Asian) | Reduced urate transport; gout risk |
| V12M (rs2231137) | Missense | ~5% (global) | Altered drug efflux; variable |
| R383X | Nonsense | Rare | Loss of function; Jr(a-) phenotype |
| S441N | Missense | Rare | Impaired trafficking; reduced activity |
Mutation functional classification
Loss of Function (LOF)
Q141K, R383X, S441N reduce or abolish urate/drug transport
Gain of Function (GOF)
Not well documented; some variants may increase efflux (e.g., V12M in certain contexts)
Dominant Negative (DN)
Not reported for ABCG2
View complete mutation data：
Gene Ontology (GO)
| • GO:0005524~ATP binding | • GO:0015238~drug transmembrane transporter activity |
| • GO:0015432~ABC-type xenobiotic transporter activity | • GO:0016324~apical plasma membrane |
| • GO:0042626~ATPase-coupled transmembrane transporter activity | • GO:0055085~transmembrane transport |
Pathways
• ABC transporters (KEGG: hsa02010)
• Drug metabolism - other enzymes (KEGG: hsa00983)
• Urate homeostasis (Reactome: R-HSA-975634)
Protein Summary
ABCG2 (BCRP) is a 655-amino acid half-transporter that forms a homodimer to function as an efflux pump. It localizes to the apical membrane of epithelial cells in the intestine, liver, kidney, and placenta. It exports a wide range of substrates including chemotherapeutics, toxins, and urate. Clinically relevant polymorphisms (e.g., Q141K) impair function and increase susceptibility to gout and alter drug response.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCG2 Knockout HEK293 Cell Line | EDC07525 | Human | 9429 | Details Get a Quote |
| ABCG2 Knockout HCT 116 Cell Line | EDJ-KQ22300 | Human | 9429 | Details Get a Quote |
| ABCG2 Knockout A-549 Cell Line | EDJ-KQ23672 | Human | 9429 | Details Get a Quote |
| ABCG2 Knockout HeLa Cell Line | EDJ-KQ55163 | Human | 9429 | Details Get a Quote |
| ABCG2 Overexpression HEK293 Stable Cell Line | EDJ-GQ120 | Human | 9429 | Details Get a Quote |
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