| Symbol
| ABCG2
| contributors: mct/shn - updated : 01-05-2011
|
| HGNC name
| ATP-binding cassette, sub-family G (WHITE), member 2
|
| HGNC id
| 74
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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 | |
| Susceptibility
|
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
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| cancer | | | |
| control of proteasomal degradation of ABCG2 would provide a novel approach in cancer chemotherapy to circumvent multidrug resistance of human cancers | | cancer | head 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 |