NOX4
NADPH oxidase 4
Summary
This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11018578 | 11:89,058,101 | T/C | downstream gene variant | — |
| rs113884885 | 11:89,062,544 | G/A | — | — |
| rs373220761 | 11:89,070,658 | T/C | — | uncertain significance |
| rs115031759 | 11:89,073,269 | G/A | — | benign |
| rs374648664 | 11:89,073,293 | C/T | — | uncertain significance |
| rs745316929 | 11:89,073,302 | A/T | — | uncertain significance |
| rs111971665 | 11:89,075,367 | G/A | — | benign |
| rs78378788 | 11:89,075,754 | A/T | — | — |
| rs536632660 | 11:89,078,119 | A/G | — | — |
| rs138335737 | 11:89,088,145 | G/T | — | uncertain significance |
| rs10830265 | 11:89,112,650 | G/A | intron variant | — |
| rs761636851 | 11:89,133,223 | C/T | — | uncertain significance |
| rs56342920 | 11:89,133,393 | C/A | — | uncertain significance |
| rs267603231 | 11:89,133,420 | C/T | — | uncertain significance |
| rs2497078928 | 11:89,133,451 | T/C | — | uncertain significance |
| rs369650195 | 11:89,133,484 | G/A | — | uncertain significance |
| rs184098470 | 11:89,133,505 | C/T | — | uncertain significance |
| rs139363194 | 11:89,133,506 | G/C | — | benign |
| rs1468425883 | 11:89,133,532 | A/C | — | uncertain significance |
| rs757122897 | 11:89,133,536 | C/A | — | uncertain significance |
| rs140381222 | 11:89,135,668 | G/A | — | likely benign |
| rs368154245 | 11:89,135,698 | C/A | — | uncertain significance |
| rs2136512 | 11:89,145,117 | C/A | — | — |
| rs7130284 | 11:89,148,372 | C/T | intron variant | — |
| rs899588531 | 11:89,155,081 | C/A | — | uncertain significance |
| rs754738850 | 11:89,165,988 | A/G | — | uncertain significance |
| rs563439630 | 11:89,165,997 | A/G | — | uncertain significance |
| rs1249753287 | 11:89,165,998 | C/A | — | uncertain significance |
| rs768559870 | 11:89,177,398 | C/T | — | uncertain significance |
| rs772707929 | 11:89,182,646 | A/C | — | uncertain significance |
| rs139341533 | 11:89,182,666 | C/A | — | likely benign |
| rs144387171 | 11:89,182,672 | C/T | — | likely benign |
| rs540659338 | 11:89,183,302 | T/C | — | — |
| rs772575797 | 11:89,184,957 | T/C | — | uncertain significance |
| rs545903395 | 11:89,184,985 | T/C | — | uncertain significance |
| rs371739605 | 11:89,184,997 | G/A | — | uncertain significance |
| rs187169250 | 11:89,192,588 | C/T | intron variant | — |
| rs494144 | 11:89,198,796 | T/A | — | — |
| rs957140 | 11:89,201,627 | G/A | intron variant | — |
| rs11018628 | 11:89,206,511 | T/G | — | — |
| rs614128 | 11:89,214,114 | G/C | intron variant | — |
| rs1312345651 | 11:89,224,372 | T/C | — | uncertain significance |
| rs145686545 | 11:89,224,387 | C/T | — | uncertain significance |
| rs749056401 | 11:89,224,398 | C/T | — | uncertain significance |
| rs3017887 | 11:89,226,088 | A/T | — | — |
| rs186467348 | 11:89,249,522 | A/G | intron variant | — |
| rs1898236 | 11:89,296,511 | G/C | — | — |
| rs3019017 | 11:89,304,589 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.