ANGPT2
angiopoietin 2
Summary
This gene belongs to the angiopoietin family of growth factors. The protein encoded by this gene is an antagonist of angiopoietin 1, and both angiopoietin 1 and angiopoietin 2 are ligands for the endothelial TEK receptor tyrosine kinase. Angiopoietin 2 is upregulated in multiple inflammatory diseases and is implicated in the direct control of inflammation-related signaling pathways. The encoded protein affects angiogenesis during embryogenesis and tumorigenesis, disrupts the vascular remodeling ability of angiopoietin 1, and may induce endothelial cell apoptosis. This gene serves a prognostic biomarker for acute respiratory distress syndrome. [provided by RefSeq, Aug 2020]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201599657 | 8:6,357,381 | G/A | stop gained | pathogenic |
| rs76020419 | 8:6,360,289 | G/T | 3 prime UTR variant | — |
| rs1812540838 | 8:6,360,687 | A/G | — | uncertain significance |
| rs773887087 | 8:6,360,716 | G/C | — | likely benign |
| rs200666311 | 8:6,360,721 | C/A | — | uncertain significance |
| rs1179079767 | 8:6,360,727 | C/T | — | likely benign |
| rs2916702 | 8:6,361,180 | G/A | intron variant | — |
| rs11779671 | 8:6,361,719 | G/T | intron variant | — |
| rs11786946 | 8:6,363,053 | T/C | — | — |
| rs2129565840 | 8:6,366,479 | C/G | — | pathogenic |
| rs57118748 | 8:6,366,574 | A/G | — | benign |
| rs2442631 | 8:6,368,776 | C/T | intron variant | — |
| rs768375694 | 8:6,371,290 | C/T | — | uncertain significance |
| rs760458544 | 8:6,371,296 | G/A | — | uncertain significance |
| rs368524229 | 8:6,371,309 | C/T | — | likely benign |
| rs7813215 | 8:6,372,233 | C/T | — | likely benign |
| rs375258890 | 8:6,372,245 | C/T | — | uncertain significance |
| rs145141058 | 8:6,372,298 | G/A | — | benign |
| rs2515437 | 8:6,377,141 | C/T | — | — |
| rs61733318 | 8:6,377,419 | G/A | — | pathogenic |
| rs144222266 | 8:6,377,430 | A/G | — | likely benign |
| rs980843322 | 8:6,377,457 | T/A | — | uncertain significance |
| rs147113668 | 8:6,377,507 | C/G | — | benign |
| rs778968356 | 8:6,378,713 | A/G | — | uncertain significance |
| rs78729465 | 8:6,378,720 | T/A | — | benign |
| rs55633437 | 8:6,378,784 | C/A | — | likely benign |
| rs567870217 | 8:6,378,785 | G/A | — | uncertain significance |
| rs149699486 | 8:6,378,794 | A/G | — | benign |
| rs1487084284 | 8:6,378,868 | T/G | — | uncertain significance |
| rs757307649 | 8:6,378,896 | T/C | — | uncertain significance |
| rs17077313 | 8:6,380,467 | G/C | intron variant | — |
| rs116218062 | 8:6,385,067 | T/G | — | benign |
| rs190699250 | 8:6,385,086 | C/G | — | uncertain significance |
| rs2487511083 | 8:6,385,116 | C/T | — | uncertain significance |
| rs139251288 | 8:6,385,144 | C/G | — | likely benign |
| rs144373407 | 8:6,385,150 | G/A | — | benign |
| rs115556798 | 8:6,385,180 | C/T | — | benign |
| rs1868554 | 8:6,386,747 | T/C | — | — |
| rs2442607 | 8:6,387,308 | T/C | intron variant | — |
| rs734701 | 8:6,388,247 | G/A | intron variant | — |
| rs2515475 | 8:6,388,439 | C/T | intron variant | — |
| rs2515477 | 8:6,388,640 | C/T | intron variant | — |
| rs12674822 | 8:6,389,216 | T/G | intron variant | — |
| rs201292344 | 8:6,389,923 | A/G | — | uncertain significance |
| rs774660071 | 8:6,389,975 | C/G | — | uncertain significance |
| rs766306564 | 8:6,389,997 | A/G | — | likely benign |
| rs2487614846 | 8:6,390,005 | C/T | — | uncertain significance |
| rs2442599 | 8:6,394,151 | G/A | intron variant | — |
| rs2442598 | 8:6,394,821 | T/G | — | — |
| rs11137037 | 8:6,396,182 | A/G | — | — |
| rs11775442 | 8:6,396,358 | A/G | intron variant | — |
| rs13269021 | 8:6,396,763 | G/T | intron variant | — |
| rs1823375 | 8:6,396,998 | G/C | intron variant | — |
| rs4455855 | 8:6,397,430 | A/T | intron variant | — |
| rs13255574 | 8:6,398,677 | C/T | intron variant | — |
| rs2515493 | 8:6,406,572 | C/G | — | — |
| rs762386101 | 8:6,420,200 | T/A | — | uncertain significance |
| rs765673207 | 8:6,420,234 | A/C | — | uncertain significance |
| rs1563132570 | 8:6,420,274 | A/C | — | uncertain significance |
| rs749213090 | 8:6,420,295 | C/A | — | uncertain significance |
| rs772939526 | 8:6,420,317 | G/A | — | likely benign |
| rs2488172382 | 8:6,420,331 | C/T | — | uncertain significance |
| rs7814961 | 8:6,420,360 | C/T | — | benign |
| rs1360452984 | 8:6,420,388 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.