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ABCG2

From SNPedia
is agene
is mentioned by
Full nameATP-binding cassette, sub-family G (WHITE), member 2
EntrezGene9429
PheGenI9429
VariationViewer9429
ClinVarABCG2
GeneCardsABCG2
dbSNP9429
DiseasesABCG2
SADR9429
HugeNav9429
wikipediaABCG2
googleABCG2
gopubmedABCG2
EVSABCG2
HEFalMpABCG2
MyGene2ABCG2
23andMeABCG2
UniProtQ9UNQ0
EnsemblENSG00000118777
OMIM603756
# SNPs20
 Max MagnitudeChromosome positionSummary
rs13120400088,112,375
rs140207606088,118,244
rs1481012088,117,930
rs17731538088,134,227
rs17731799088,147,303
rs200190472088,118,214
rs2199936088,124,179
rs22311371.588,139,962
rs22311423.588,131,171gout
rs2231164088,094,705
rs2622604088,157,772
rs2622621088,109,768
rs3114018088,143,429
rs3114020088,162,514
rs387906869088,113,385
rs387906870088,118,158
rs4148152088,139,757
rs4148155088,133,515
rs6857600088,144,923
rs725527133.588,131,805


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 28858993OA-icon.png] including the mention of these ABCG2 variants leading to reduced protein function: