CYP3A4
cytochrome P450 family 3 subfamily A member 4
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam, erythromycin, and chloroquine. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2020]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs35599367 | 7:99,354,604 | C/T | intronic | — |
| rs765598920 | 7:99,355,805 | G/T | — | uncertain significance |
| rs3735451 | 7:99,355,975 | T/C | intron variant | — |
| rs4986913 | 7:99,358,459 | G/A | missense variant | — |
| rs4986910 | 7:99,358,524 | A/G | missense variant | — |
| rs2485867252 | 7:99,358,531 | T/C | — | uncertain significance |
| rs1041988 | 7:99,358,566 | A/G | missense variant | — |
| rs35723517 | 7:99,359,655 | G/A | — | benign |
| rs4986909 | 7:99,359,670 | G/C | missense variant | — |
| rs2151554433 | 7:99,359,763 | C/T | — | uncertain significance |
| rs12721629 | 7:99,359,800 | G/A | missense variant | — |
| rs67784355 | 7:99,359,829 | G/A | missense variant | likely benign |
| rs1270454009 | 7:99,359,877 | T/C | — | uncertain significance |
| rs4646440 | 7:99,360,870 | G/A | regulatory region variant | — |
| rs2242480 | 7:99,361,466 | C/T | upstream gene variant | drug response |
| rs1815413655 | 7:99,361,602 | A/G | — | pathogenic |
| rs28371759 | 7:99,361,626 | A/G | missense variant | uncertain significance |
| rs35564277 | 7:99,362,436 | T/C | upstream gene variant | — |
| rs3208363 | 7:99,364,798 | A/T | missense variant | — |
| rs4646437 | 7:99,365,083 | G/A | downstream gene variant | drug response |
| rs2246709 | 7:99,365,719 | A/G | downstream gene variant | — |
| rs2687116 | 7:99,365,943 | C/T | — | — |
| rs55785340 | 7:99,365,983 | A/G | missense variant | — |
| rs55901263 | 7:99,365,994 | G/C | missense variant | — |
| rs1418257910 | 7:99,366,033 | T/C | — | uncertain significance |
| rs4987159 | 7:99,366,068 | G/A | — | benign |
| rs3208361 | 7:99,366,070 | T/C | missense variant | — |
| rs906783396 | 7:99,366,071 | G/C | — | uncertain significance |
| rs4987161 | 7:99,366,081 | A/G | missense variant | — |
| rs12721627 | 7:99,366,093 | G/C | missense variant | — |
| rs4986908 | 7:99,367,392 | C/G | missense variant | — |
| rs4986907 | 7:99,367,427 | C/T | missense variant | — |
| rs72552799 | 7:99,367,788 | C/T | missense variant | — |
| rs1815592239 | 7:99,367,802 | T/A | — | uncertain significance |
| rs55951658 | 7:99,367,825 | T/C | missense variant | — |
| rs3091339 | 7:99,370,245 | T/C | missense variant | — |
| rs56324128 | 7:99,375,702 | C/T | missense variant | — |
| rs2485909112 | 7:99,377,707 | A/G | — | uncertain significance |
| rs12721634 | 7:99,381,661 | A/G | missense variant | — |
| rs2740574 | 7:99,382,096 | A/G | regulatory | benign |
| rs11773597 | 7:99,382,451 | G/C | upstream gene variant | — |
| rs67666821 | 7:99,758,183 | G/GT | frameshift variant | — |
| rs201821708 | 7:99,763,925 | T/C | missense variant | — |
| rs766060602 | 7:99,763,949 | C/T | missense variant | — |
| rs4646438 | 7:99,766,411 | G/GT | frameshift variant | — |
| rs138105638 | 7:99,766,440 | G/A | stop gained | — |
| rs113667357 | 7:99,768,424 | T/A | missense variant | likely benign |
| rs72552798 | 7:99,769,781 | C/T | missense variant | — |
| rs57409622 | 7:99,769,805 | G/A | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.