Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
Symbol ABCG2 contributors: mct/shn - updated : 01-05-2011
HGNC name ATP-binding cassette, sub-family G (WHITE), member 2
HGNC id 74
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in drug resistant cell lines and in glioblastoma
tumoral       loss of function
in renal carcinoma by DNA methylation-dependent formation of a repressor complex in the CpG island
constitutional     --low  
decreased placental expression may result in reduced viability and hence functional deficit, contributing to the fetal growth restriction phenotype
tumoral     --over  
in diffuse large B-cell lymphoma with significantly shorter overall survival
  • to resistance to chemotherapy
  • to gout
  • Variant & Polymorphism SNP , other
  • SNPs altering transport functions of ABCG2 transporter and the response/metabolism of chemotherapy compounds that act as substrates for ABCG2
  • mutation Q141K encoded by the common SNP rs2231142 resulted in 53p100 reduced urate transport rates compared to wild-type and in gout
  • genetic variants significantly associated with uric acid levels
  • Candidate gene
    Therapy target
    control of proteasomal degradation of ABCG2 would provide a novel approach in cancer chemotherapy to circumvent multidrug resistance of human cancers
    cancerhead and neck 
    targeting ABCG2 and Hh signaling may have therapeutic value in overcoming chemoresistance indiffuse large B-cell lymphoma (DLBCL)
  • cells expressing Abcg2 increased upon injury and that muscle regeneration was impaired in Abcg2-null mice, resulting in fewer centrally nucleated myofibers, reduced myofiber size, and fewer satellite cells