Overview
| Alternate Names: | ABC transporter; ATP-BINDING CASSETTE TRANSPORTER, PLACENTA-SPECIFIC; ABCP; ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 2; ABCG2; ATP-binding cassette sub-family G (WHITE) member 2; ATP-binding cassette transporter G2; ATP-binding cassette, sub-family G, member 2; BREAST CANCER RESISTANCE PROTEIN; BCRP; breast cancer resistance protein; mitoxantrone resistance protein; placenta specific MDR protein |
|---|---|
| Alternate Symbols: | ABC15; ABCG2; ABCP; AF103796.1; BCRP; BCRP1; BMDP; CD338; CDw338; EST157481; MGC102821; MRX; MXR; MXR1 |
| PharmGKB Accession Id: | PA390 |
Details
| Cytogenetic Location: | chr4 : q22.1 |
|---|---|
| GP mRNA Boundary†: | chr4 : 89230440 - 89299035 |
| GP Gene Boundary†: | chr4 : 89227440 - 89309035 |
| Strand: | minus |
| Product Name: | ABC transporter, ATP-binding cassette sub-family G (WHITE) member 2, ATP-binding cassette transporter G2, ATP-binding cassette, sub-family G, member 2, breast cancer resistance protein, mitoxantrone resistance protein, placenta specific MDR protein |
†
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped
onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries
by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for
potential regulatory regions.
Curated Annotations (
)
-
rs13120400
at chr4:89252551
in
ABCG2
SNP is associated with clinical reponse to methotrexate in patients with psoriasis.- Related Drugs:
- methotrexate
- Related Diseases:
- Psoriasis
- Evidence:
-
PMID:18256692
-
rs2231142
at chr4:89271347
in
ABCG2
Lung cancer patients carrying the A allele of ABCG2:421C>A were at increased risk for diarrhea but not skin toxicity following oral gefitinib treatment.- Variant Name:
- ABCG2:421C>A; ABCG2:Q141K; rs2231142
- Related Drugs:
- gefitinib
- Related Diseases:
- Carcinoma, Non-Small-Cell Lung, Diarrhea, Lung Neoplasms
- Evidence:
-
PMID:17148776
-
rs2231142
at chr4:89271347
in
ABCG2
The ABCG2 421C>A genotype significantly affected the pharmacokinetics of diflomotecan in 5 patients heterozygous for this allele.- Variant Name:
- ABCG2:421C>A; ABCG2:Q141K; rs2231142
- Related Drugs:
- diflomotecan
- Related Diseases:
- Neoplasms
- Evidence:
-
PMID:15229462
-
rs2231142
at chr4:89271347
in
ABCG2
A allele is associated with increased rosuvastatin plasma AUC- Variant Name:
- ABCG2:421C>A
- Related Drugs:
- rosuvastatin
- Evidence:
-
PMID:19474787
-
rs2231142
at chr4:89271347
in
ABCG2
Introduction of the mutation Q141K in the ABCG2 gene by site-directed mutagenesis resulted in 53% reduced urate transport rates compared to wild-type ABCG2 (P < 0.001). Data of this study indicate that at least 10% of all gout cases in whites are attributable to this causal variant.- Variant Name:
- ABCG2: Q141K
- Related Diseases:
- Gout
- Evidence:
-
PMID:19506252
-
rs2231142
at chr4:89271347
in
ABCG2
studied allele=A; study size=46 (30 children; 16 adults);PK=significantly lower clearance (-23%) of imatinib and major metabolite in heterozygous versus wild-type homozygous patients when genotype considered with body weight, albuminemia and alpha1-acid glycoprotein covariates; significance= P < 0.05; genotype alone not associated with increased clearance- Variant Name:
- ABCG2:421C>A; ABCG2:Q141K;
- Related Drugs:
- imatinib
- Evidence:
-
PMID:18981009
-
rs2231142
at chr4:89271347
in
ABCG2
study size=14, only SLCO1B1 521TT and CYP2C9*1/*1 wild-type homozygotes . ethnicity=Japanese. PK and signficance= AUC of rosuvastatin were lower in the 421CC group than in the 421CA+421AA group P=0.018; C(max) value was higher in the 421CA+421AA group than that in the 421CC group P=0.048; CL/F was lower in the 421CA+421AA group than that in the 421CC group P=0.043). The T(1/2) and T(max) values showed no difference between 421CC vs 421CA+421AA- Variant Name:
- ABCG2:421C>A; ABCG2:Q141K;
- Related Drugs:
- rosuvastatin
- Evidence:
-
PMID:16784736
-
rs2231142
at chr4:89271347
in
ABCG2
control size=7; K141 cases=6; PK=in healthy subjects, disposition of lamivudine was not significantly influenced by known functional variants- Variant Name:
- ABCG2:421C>A; ABCG2:Q141K;
- Related Drugs:
- lamivudine
- Evidence:
-
PMID:17509035
-
rs2231142
at chr4:89271347
in
ABCG2
Risk or phenotype-associated allele: A allele. Phenotype: Greater reduction in LDL-C level. Study size: 305. Study population/ethnicity: Chinese patients with hypercholesterolemia treated with rosuvastatin. Significance metric(s): overall P = 0.0006. Type of association: GN; PD- Variant Name:
- ABCG2:c.421C>A (Gln141Lys)
- Related Drugs:
- rosuvastatin
- Related Diseases:
- Hypercholesterolemia
- Evidence:
-
PMID:20130569
-
rs72552713
at chr4:89271981
in
ABCG2
control size=7; X126 cases=6; PK=in healthy subjects, disposition of lamivudine was not significantly influenced by known functional variants- Variant Name:
- ABCG2:Q126X
- Related Drugs:
- lamivudine
- Evidence:
-
PMID:17509035
-
rs17731538
at chr4:89274403
in
ABCG2
SNP is associated with clinical reponse to methotrexate in patients with psoriasis.- Related Drugs:
- methotrexate
- Related Diseases:
- Psoriasis
- Evidence:
-
PMID:18256692
-
rs2231137
at chr4:89280138
in
ABCG2
control size=7; M12 cases=6; PK=in healthy subjects, disposition of lamivudine was not significantly influenced by known functional variants- Variant Name:
- ABCG2:V12M
- Related Drugs:
- lamivudine
- Evidence:
-
PMID:17509035
-
rs2622604
at chr4:89297948
in
ABCG2
Risk or phenotype-associated allele: T. Phenotype: This SNP was associated with increased risk of myelosuppression in cancer patients treated with irinotecan. Study size: 108. Study population/ethnicity: Japanese patients with neoplasms; Japan. Significance metric(s): p = 0.036. Type of association: PK; CO.- Variant Name:
- ABCG2 SNP in intron 1; rs2622604 C>T
- Related Drugs:
- irinotecan
- Related Diseases:
- Anemia, Drug Toxicity, Leukopenia, Neoplasms, Neutropenia, Thrombocytopenia
- Evidence:
-
PMID:19696792
Non-Curated Annotations (
)
-
rs2231142
at chr4:89271347
in
ABCG2
GWAS results: Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. (Initial Sample Size: 11,847 individuals; Replication Sample Size: 14,867 individuals); (Region: 4q22.1; Reported Gene(s): ABCG2; Risk Allele: rs2231142-?); (p-value= 3E-60).This variant is associated with Serum urate. -
rs2231142
at chr4:89271347
in
ABCG2
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. (Initial Sample Size: 11,847 individuals; Replication Sample Size: 14,867 individuals); (Region: 4q22.1; Reported Gene: ABCG2; Risk Allele: rs2231142-?) This variant is associated with Serum urate.
Variant names are different names that have been used in the literature and other resources to
refer to the same variant.
Non-curated variant information is accumulated solely by computational methods and has not
been verified by the scientific staff at PharmGKB.
Non-Curated Information
A list of non-curated publications that mention this gene along with other genes is available.
PharmGKB Curated Pathways
- Doxorubicin (Cancer PD)
- Doxorubicin (PK)
- Erlotinib Pathway (PK)
- Fluoropyrimidine (PK)
- Gefitinib Pathway (PK)
- Irinotecan Pathway (Cancer)
- Irinotecan Pathway (liver)
- Methotrexate Pathway
- Platinum Aggregation Pathway
- Statin Pathway (PK)
- Statin Pathway (Pravastatin PK)
- Taxane Pathway
PID Pathways†
†
External pathways not curated by PharmGKB.
Curated Information
The following drugs are in curated knowledge about this gene.
| Drug Class | Relationship | Evidence | |
|---|---|---|---|
|
antineoplastic agents |
|
Publications |
|
|
xenobiotics |
|
Publications |
Non-Curated Information
A list of non-curated publications that mention this gene along with other drugs is available.
Curated Information
The following diseases are in curated knowledge about this gene.
Non-Curated Information
A list of non-curated publications that mention this gene along with other diseases is available.
Curated Phenotype Datasets
These datasets are sorted alphabetically by title.
- RNA expression in metabolite and transport genes
- FA
Submitted by Howard McLeod, PharmD involving ABCB1, ABCC1, ABCC2, ABCC3, ABCC4, ABCG2, ATM, ATR, BAK1, BAX, BCL2, BCL2L1, CCNA2, CCND1, CDA, CDC2, CDC25C, CDC37, CDC45L, CDK2, CDK4, CDKN1A, CDKN1B, CDKN2A, CES1, CES2, CYP3A4, CYP3A5, DCK, DDB1, DHFR, DPYD, DPYS, DRG1, DTYMK, DUT, E2F1, ECGF1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, FASLG, FDXR, FPGS, GGH, GSTM1, GSTP1, HMGB1, MAP4, MLH1, MPO, MSH2, MSH6, MTHFR, NFKB1, NME1, NME2, NT5C, PARP1, POLB, POLH, PTGS1, PTGS2, RAD9A, RB1, RRM1, RRM2, SOD1, TDP1, TK1, TOP1, TOP2A, TP53, TUBB, TYMS, UCK2, UGT1A1, UMPS, UNG, UPB1, UPP1, XPA, XPC, XRCC1, and Colonic Neoplasms
Additional Datasets
These datasets are minimally curated and are sorted alphabetically by title.
Downloads
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LinkOuts
- Entrez Gene ID:
- 9429
- OMIM Accession:
- 603756
- UCSC Genome Browser ID:
- NM_004827
- Ref Seq NM Accession:
- NM_004827
- Ref Seq NP Accession:
- AAC97367
- AAD09188
- AAG52982
- AAH21281
- AAH92408
- AAL35305
- AAO14617
- AAP31310
- AAP44087
- AAQ92941
- AAQ92942
- AAY40902
- ABI97388
- ABM83234
- ABM86433
- BAA92050
- BAB39212
- BAB46933
- BAF82689
- CAF32512
- EAX06012
- EAX06013
- NP_004818
- Q4W5I3
- Q8WZ76
- Q9UNQ0
- Ref Seq NT Accession:
- AC_000047
- AC_000136
- NC_000004
- NT_016354
- NW_001838915
- NW_922162
- UniProtKB Accesssion:
- ABCG2_HUMAN (Q9UNQ0)
- Ensembl ID:
- ENSG00000118777
- GenAtlas ID:
- ABCG2
- GeneCard ID:
- ABCG2
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.