ABCG2
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | ATP-binding cassette, sub-family G (WHITE), member 2 |
| EntrezGene | 9429 |
| PheGenI | 9429 |
| VariationViewer | 9429 |
| ClinVar | ABCG2 |
| GeneCards | ABCG2 |
| dbSNP | 9429 |
| Diseases | ABCG2 |
| SADR | 9429 |
| HugeNav | 9429 |
| wikipedia | ABCG2 |
| ABCG2 | |
| gopubmed | ABCG2 |
| EVS | ABCG2 |
| HEFalMp | ABCG2 |
| MyGene2 | ABCG2 |
| 23andMe | ABCG2 |
| UniProt | Q9UNQ0 |
| Ensembl | ENSG00000118777 |
| OMIM | 603756 |
| # SNPs | 20 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs13120400 | 0 | 88,112,375 | |
| rs140207606 | 0 | 88,118,244 | |
| rs1481012 | 0 | 88,117,930 | |
| rs17731538 | 0 | 88,134,227 | |
| rs17731799 | 0 | 88,147,303 | |
| rs200190472 | 0 | 88,118,214 | |
| rs2199936 | 0 | 88,124,179 | |
| rs2231137 | 1.5 | 88,139,962 | |
| rs2231142 | 3.5 | 88,131,171 | gout |
| rs2231164 | 0 | 88,094,705 | |
| rs2622604 | 0 | 88,157,772 | |
| rs2622621 | 0 | 88,109,768 | |
| rs3114018 | 2.3 | 88,143,429 | |
| rs3114020 | 0 | 88,162,514 | |
| rs387906869 | 0 | 88,113,385 | |
| rs387906870 | 0 | 88,118,158 | |
| rs4148152 | 0 | 88,139,757 | |
| rs4148155 | 0 | 88,133,515 | |
| rs6857600 | 0 | 88,144,923 | |
| rs72552713 | 3.5 | 88,131,805 |
ABCG2 is a secretory urate transporter in the proximal tubule. Consequently, mutations in ABCG2 that increase serum urate concentrations are generally loss-of-function mutations. [PMID 19506252]
ABCG2 null alleles define the Jr(a-) blood group phenotype. [PMID 22246507]
Variants in the ABCG2 gene may be risk factors both for developing certain diseases and for altered drug responses. The PharmGKB group published a summary in 2017 of such associations,[PMID 28858993
] including the mention of these ABCG2 variants leading to reduced protein function:
- rs2231137; c.34G>A, p.Val12Met
- rs2231142; c.421C>A, p.Gln141Lys
- rs34783571; c.1858G>A, p.Asp620Asn
- rs192169063; c.1465T>C, p.Phe489Leu
- rs72552713; c.376C>T, p.Gln126Ter
- rs34264773; c.1768A>T, p.Asn590Tyr
