ABCG2 ATP binding cassette subfamily G member 2 (JR blood group)
Gene ID: 9429, updated on 10-Oct-2024Gene type: protein coding
Also known as: MRX; MXR; ABCP; BCRP; BMDP; MXR1; ABC15; BCRP1; CD338; GOUT1; MXR-1; CDw338; CDw388; UAQTL1; EST157481
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- Go to complete Gene record for ABCG2
- Go to Variation Viewer for ABCG2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population. GeneReviews: Not available | |
| Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. GeneReviews: Not available | |
| Blood group, Junior system | not available |
| Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. GeneReviews: Not available | |
| Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. GeneReviews: Not available | |
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available | |
| Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia. GeneReviews: Not available | |
| Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. GeneReviews: Not available | |
| GWAS of dental caries patterns in the permanent dentition. GeneReviews: Not available | |
| Identification of low-frequency variants associated with gout and serum uric acid levels. GeneReviews: Not available | |
| Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. GeneReviews: Not available | |
| Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. GeneReviews: Not available | |
| Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. GeneReviews: Not available | |
| Uric acid concentration, serum, quantitative trait locus 1 | See labs |
Genomic context
- Location:
- 4q22.1
- Sequence:
- Chromosome: 4; NC_000004.12 (88090264..88231626, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ABCG2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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