ABCG2
ATP binding cassette subfamily G member 2 (JR blood group)
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]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2725268 | 4:89,010,983 | A/G | — | benign |
| rs1232606613 | 4:89,013,393 | T/C | — | uncertain significance |
| rs2476045585 | 4:89,013,406 | A/G | — | uncertain significance |
| rs780612821 | 4:89,013,463 | C/T | — | uncertain significance |
| rs34783571 | 4:89,013,496 | C/T | missense variant | — |
| rs2476056506 | 4:89,015,772 | G/A | — | uncertain significance |
| rs2231164 | 4:89,015,857 | C/T | intron variant | — |
| rs45605536 | 4:89,018,670 | C/T | — | likely benign |
| rs745473062 | 4:89,018,685 | T/A | — | uncertain significance |
| rs2476073659 | 4:89,018,711 | A/G | — | uncertain significance |
| rs1002012563 | 4:89,018,717 | G/C | — | uncertain significance |
| rs2231156 | 4:89,020,427 | C/A | intron variant | — |
| rs192169063 | 4:89,020,503 | A/G | missense variant | — |
| rs2476083503 | 4:89,020,515 | G/T | — | uncertain significance |
| rs747309767 | 4:89,022,439 | T/C | — | uncertain significance |
| rs180724706 | 4:89,023,741 | C/T | intron variant | — |
| rs2725264 | 4:89,026,109 | T/C | — | benign |
| rs2725263 | 4:89,026,428 | C/A | — | benign |
| rs1195738208 | 4:89,028,358 | C/A | — | uncertain significance |
| rs2476121146 | 4:89,028,418 | T/A | — | uncertain significance |
| rs2622628 | 4:89,029,252 | C/A | — | benign |
| rs536115858 | 4:89,030,372 | G/A | — | — |
| rs2622621 | 4:89,030,920 | C/G | regulatory region variant | — |
| rs13120400 | 4:89,033,527 | T/C | intron variant | — |
| rs763296846 | 4:89,034,471 | T/C | — | uncertain significance |
| rs2476151457 | 4:89,034,514 | A/G | — | uncertain significance |
| rs138606116 | 4:89,034,589 | C/T | — | likely benign |
| rs1325014091 | 4:89,034,677 | C/A | — | uncertain significance |
| rs1332477328 | 4:89,036,148 | A/G | — | uncertain significance |
| rs763107505 | 4:89,036,183 | G/C | — | uncertain significance |
| rs774397302 | 4:89,036,185 | G/T | — | uncertain significance |
| rs1481012 | 4:89,039,082 | A/G | intron variant | — |
| rs771907414 | 4:89,039,258 | T/C | — | likely benign |
| rs1165564275 | 4:89,039,300 | C/T | — | uncertain significance |
| rs387906870 | 4:89,039,310 | — | — | pathogenic |
| rs779482956 | 4:89,039,311 | A/C | — | uncertain significance |
| rs201913594 | 4:89,039,337 | G/T | — | uncertain significance |
| rs200190472 | 4:89,039,366 | G/A | stop gained | affects |
| rs140207606 | 4:89,039,396 | G/A | stop gained | association |
| rs149027545 | 4:89,044,180 | G/A | — | — |
| rs138409370 | 4:89,044,312 | A/T | intron variant | — |
| rs2199936 | 4:89,045,331 | A/G | intron variant | — |
| rs141471965 | 4:89,046,202 | C/T | intron variant | — |
| rs2231143 | 4:89,052,199 | T/A | intron variant | — |
| rs528922939 | 4:89,052,295 | G/C | — | uncertain significance |
| rs2231142 | 4:89,052,323 | G/T | missense | drug response |
| rs143923418 | 4:89,052,339 | C/T | — | likely benign |
| rs72552713 | 4:89,052,957 | G/A | stop gained | association |
| rs2231139 | 4:89,052,964 | G/A | — | benign |
| rs2231138 | 4:89,053,718 | T/C | — | benign |
| rs34124189 | 4:89,053,790 | G/A | — | benign |
| rs4148155 | 4:89,054,667 | A/G | intron variant | — |
| rs17731538 | 4:89,055,379 | G/A | intron variant | — |
| rs4148153 | 4:89,056,715 | G/A | intron variant | — |
| rs4148152 | 4:89,060,909 | T/C | intron variant | — |
| rs2476286757 | 4:89,061,033 | A/C | — | uncertain significance |
| rs2231137 | 4:89,061,114 | C/T | missense variant | association |
| rs3114018 | 4:89,064,581 | A/G | — | — |
| rs6857600 | 4:89,066,075 | C/T | regulatory region variant | — |
| rs17731799 | 4:89,068,455 | G/C | — | — |
| rs2725242 | 4:89,069,527 | T/G | — | — |
| rs9999111 | 4:89,073,197 | A/C | — | benign |
| rs2622604 | 4:89,078,924 | T/A | — | — |
| rs3114020 | 4:89,083,666 | T/G | — | — |
| rs11732936 | 4:89,090,615 | A/G | intron variant | — |
| rs10011796 | 4:89,090,877 | T/C | intron variant | — |
| rs60816576 | 4:89,097,087 | G/T | intron variant | — |
| rs2725243 | 4:89,097,309 | G/T | — | — |
| rs7442224 | 4:89,102,651 | G/T | — | — |
| rs7672194 | 4:89,126,647 | C/A | — | — |
| rs79482659 | 4:89,145,931 | C/T | upstream gene variant | — |
| rs6846256 | 4:89,154,111 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.