UGT2B7
UDP glucuronosyltransferase family 2 member B7
Pharmacogene
Summary
The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
Known Variants153 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs776991562 | 4:69,108,204 | G/A | missense variant | drug response |
| rs4694596 | 4:69,934,355 | A/C | intron variant | — |
| rs4632729 | 4:69,946,004 | A/T | — | — |
| rs28712409 | 4:69,946,229 | A/G | intron variant | — |
| rs11249524 | 4:69,946,371 | T/C | intron variant | — |
| rs11249526 | 4:69,946,652 | G/T | intron variant | — |
| rs7679550 | 4:69,946,905 | A/T | — | — |
| rs7699711 | 4:69,947,596 | G/A | — | — |
| rs62296935 | 4:69,948,596 | A/C | — | — |
| rs6422324 | 4:69,953,103 | A/G | — | — |
| rs55757747 | 4:69,955,637 | A/G | — | — |
| rs7438135 | 4:69,961,339 | G/C | — | — |
| rs7662029 | 4:69,961,912 | A/T | — | — |
| rs762365097 | 4:69,962,065 | C/A | — | drug response |
| rs1577920581 | 4:69,962,066 | T/A | — | drug response |
| rs1577920582 | 4:69,962,067 | T/A | — | drug response |
| rs1577920587 | 4:69,962,077 | C/T | — | drug response |
| rs7668258 | 4:69,962,078 | T/C | regulatory region variant | drug response |
| rs756286593 | 4:69,962,093 | C/A | — | drug response |
| rs73823859 | 4:69,962,101 | G/A | — | drug response |
| rs1577920642 | 4:69,962,173 | G/T | — | drug response |
| rs1577920696 | 4:69,962,232 | C/T | — | drug response |
| rs1458035928 | 4:69,962,268 | G/A | — | drug response |
| rs1157290351 | 4:69,962,275 | C/T | — | drug response |
| rs1412192907 | 4:69,962,278 | C/T | — | drug response |
| rs1577920737 | 4:69,962,282 | G/A | — | drug response |
| rs1403703291 | 4:69,962,297 | C/T | — | drug response |
| rs1255338508 | 4:69,962,349 | G/A | — | drug response |
| rs1577920799 | 4:69,962,354 | T/G | — | drug response |
| rs1577920813 | 4:69,962,363 | T/C | — | drug response |
| rs1577920819 | 4:69,962,368 | G/A | — | drug response |
| rs61361928 | 4:69,962,375 | T/C | missense variant | drug response |
| rs777092380 | 4:69,962,389 | C/T | — | drug response |
| rs142158304 | 4:69,962,404 | C/G | — | uncertain significance |
| rs1314561243 | 4:69,962,416 | G/T | — | uncertain significance |
| rs750369010 | 4:69,962,425 | C/A | — | uncertain significance |
| rs12233719 | 4:69,962,449 | G/A | missense variant | drug response |
| rs765384197 | 4:69,962,494 | T/A | — | uncertain significance |
| rs1577920993 | 4:69,962,518 | A/T | — | drug response |
| rs373751680 | 4:69,962,519 | T/G | — | uncertain significance |
| rs770251825 | 4:69,962,540 | C/T | — | drug response |
| rs767454107 | 4:69,962,557 | T/C | — | drug response |
| rs373954369 | 4:69,962,572 | G/A | — | drug response |
| rs1424717351 | 4:69,962,583 | C/T | — | drug response |
| rs772560918 | 4:69,962,586 | G/A | — | drug response |
| rs1577921077 | 4:69,962,596 | G/C | — | drug response |
| rs28365063 | 4:69,962,610 | A/G | — | drug response |
| rs1577921125 | 4:69,962,631 | T/G | — | drug response |
| rs749742372 | 4:69,962,666 | C/T | — | drug response |
| rs147120761 | 4:69,962,676 | C/T | — | drug response |
| rs1577921281 | 4:69,962,733 | C/T | — | drug response |
| rs747704916 | 4:69,962,737 | C/T | — | drug response |
| rs1577921353 | 4:69,962,781 | A/C | — | drug response |
| rs1577921432 | 4:69,962,837 | A/G | — | drug response |
| rs879036094 | 4:69,962,846 | A/G | — | uncertain significance |
| rs769560693 | 4:69,962,887 | G/A | — | drug response |
| rs1577921469 | 4:69,962,889 | G/T | — | drug response |
| rs1577921483 | 4:69,962,901 | C/A | — | drug response |
| rs1560508731 | 4:69,962,921 | A/T | — | uncertain significance |
| rs376632240 | 4:69,962,924 | T/C | — | uncertain significance |
| rs1259514034 | 4:69,962,962 | A/T | — | drug response |
| rs1314742807 | 4:69,963,039 | G/A | — | drug response |
| rs1577921669 | 4:69,963,150 | T/C | — | drug response |
| rs1386213886 | 4:69,963,152 | T/G | — | drug response |
| rs12647681 | 4:69,963,160 | A/C | — | drug response |
| rs1300063360 | 4:69,963,165 | C/T | — | drug response |
| rs12647682 | 4:69,963,168 | A/G | — | drug response |
| rs1198796766 | 4:69,963,175 | C/T | — | drug response |
| rs1423616754 | 4:69,963,197 | C/T | — | drug response |
| rs12648462 | 4:69,963,231 | T/C | — | drug response |
| rs1577921738 | 4:69,963,240 | C/A | — | drug response |
| rs1577921765 | 4:69,963,285 | A/C | — | drug response |
| rs1577922078 | 4:69,964,029 | G/T | — | drug response |
| rs73823860 | 4:69,964,077 | C/T | — | drug response |
| rs60529914 | 4:69,964,123 | A/G | — | drug response |
| rs7439326 | 4:69,964,180 | T/C | — | drug response |
| rs1291339023 | 4:69,964,205 | A/T | — | drug response |
| rs7438244 | 4:69,964,209 | A/G | — | drug response |
| rs1577922194 | 4:69,964,232 | A/C | — | drug response |
| rs754726573 | 4:69,964,258 | G/A | — | uncertain significance |
| rs28365062 | 4:69,964,271 | A/G | synonymous variant | drug response |
| rs781384898 | 4:69,964,273 | T/C | — | uncertain significance |
| rs778509979 | 4:69,964,331 | G/C | — | drug response |
| rs7439366 | 4:69,964,338 | T/C | missense variant | drug response |
| rs749400319 | 4:69,964,351 | C/T | — | drug response |
| rs34661811 | 4:69,964,391 | C/A | — | drug response |
| rs56388229 | 4:69,966,658 | G/T | — | — |
| rs1577924333 | 4:69,968,496 | T/G | — | drug response |
| rs1344464876 | 4:69,968,498 | G/A | — | drug response |
| rs1577924336 | 4:69,968,500 | G/A | — | drug response |
| rs1395641165 | 4:69,968,506 | G/A | — | drug response |
| rs775959265 | 4:69,968,530 | G/A | — | uncertain significance |
| rs767539882 | 4:69,968,588 | A/G | — | uncertain significance |
| rs1479676448 | 4:69,968,627 | G/T | — | drug response |
| rs769286636 | 4:69,968,629 | A/C | — | drug response |
| rs1577924539 | 4:69,968,639 | G/T | — | drug response |
| rs1327715763 | 4:69,968,654 | A/T | — | drug response |
| rs1577924575 | 4:69,968,678 | G/A | — | drug response |
| rs1577924620 | 4:69,968,744 | A/G | — | drug response |
| rs1577924627 | 4:69,968,746 | G/A | — | drug response |
Showing 100 of 153 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.