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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]
ABCG2 (ATP Binding Cassette Subfamily G Member 2 (Junior Blood Group)) is a Protein Coding gene. Diseases associated with ABCG2 include Uric Acid Concentration, Serum, Quantitative Trait Locus 1 and Blood Group, Junior System. Among its related pathways are Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics and Abacavir transport and metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ATPase activity. An important paralog of this gene is ABCG8.
ATP-binding cassette (ABC) transporters form one of the largest groups of paralogous protein families that have a wide diversity of functions and substrates. Specificity has been shown for small and large molecules, highly charged molecules and highly hydrophobic systems.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 18056989 |
GO:0005524 | ATP binding | IEA | -- |
GO:0008559 | xenobiotic transmembrane transporting ATPase activity | IDA | 9861027 |
GO:0015143 | urate transmembrane transporter activity | IMP | 19506252 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006879 | cellular iron ion homeostasis | TAS | -- |
GO:0015747 | urate transport | IEA | -- |
GO:0015878 | biotin transport | ISS | -- |
GO:0032218 | riboflavin transport | IDA | 17145775 |
GO:0046415 | urate metabolic process | IMP | 18834626 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Doxorubicin | Approved, Investigational | Pharma | Transporter, substrate | Topo II inhibitor,immunosuppresive antineoplastic antibiotic | 2029 | |
Gefitinib | Approved, Investigational | Pharma | Transporter, substrate, inhibitor | EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors | 409 | |
Irinotecan | Approved, Investigational | Pharma | Transporter, substrate | Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors | 1414 | |
Methotrexate | Approved | Pharma | Transporter, substrate | Folate antagonist,inhibits DFHR | 1825 | |
Mitoxantrone | Approved, Investigational | Pharma | Transporter, substrate, inhibitor | 299 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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5-Hydroxyomeprazole |
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Hydroxylansoprazole |
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N-desmethylimatinib |
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O-Desmethylverapamil (D-702) |
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Compound | Action | Cas Number |
---|---|---|
Fumitremorgin C | Inhibitor of BCRP-mediated multidrug resistance | 118974-02-0 |
Ko 143 | Potent and selective BCRP inhibitor | 461054-93-3 |
Pyrimethamine | Potent inhibitor of multidrug and toxin extrusion (MATE) transporters; also DHFR and STAT3 inhibitor | 58-14-0 |
Compound | Action | Cas Number |
---|---|---|
Dofequidar fumarate | MDR reversal agent | 153653-30-6 |
Elacridar | BCRP inhibitor | 143664-11-3 |
Elacridar hydrochloride | BCRP and P-GP inhibitor | 143851-98-3 |
Ko 143 | BCRP inhibitor,potent and selective | 461054-93-3 |
Tariquidar methanesulfonate, hydrate | P-glycoprotein inhibitor, potent and selective | 625375-83-9 |
Zosuquidar | MDR modulator | 167354-41-8 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | · | 16c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ABCG2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ABCG2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ABCG2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Abcg2 30 17 31 |
|
OneToMany | |
Abcg3 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Abcg2 30 |
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Oppossum (Monodelphis domestica) |
Mammalia | ABCG2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ABCG2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ABCG2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | abcg2 30 |
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Str.8262 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | abcg2a 30 31 |
|
OneToMany | |
abcg2d 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2184 30 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | WHITE_ANOGA 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | w 30 32 |
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E23 32 |
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st 32 |
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bw 31 |
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ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | wht-7 30 |
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C05D10.3 32 |
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C10C6.5 32 |
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T26A5.1 32 |
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wht-1 31 |
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ManyToMany | |||
C16C10.12 32 |
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Y47D3A.11 32 |
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F02E11.1 32 |
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F19B6.4 32 |
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ADP1 30 31 33 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D04554g 30 |
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A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER190W 30 |
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Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G06530 30 |
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Rice (Oryza sativa) |
Liliopsida | Os03g0157400 30 |
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Os.8900 30 |
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Bread mold (Neurospora crassa) |
Ascomycetes | NCU02544 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
782442 | Benign: not provided | 88,132,638(-) | G/A | INTRON_VARIANT | |
787808 | Benign: not provided | 88,131,812(-) | G/A | SYNONYMOUS_VARIANT | |
rs140207606 | Association: Blood group, Junior system | 88,118,244(-) | G/A | NONSENSE | |
rs1553935607 | Uncertain Significance: not provided | 88,131,172(-) | TA/T | FRAMESHIFT_VARIANT | |
rs200190472 | Affects: Blood group, Junior system | 88,118,214(-) | G/A | NONSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
uric acid concentration, serum, quantitative trait locus 1 |
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blood group, junior system |
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hyperuricemia |
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placental choriocarcinoma |
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gout |
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