ETV5
ETS variant transcription factor 5
Summary
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in cellular response to oxidative stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs151057501 | 3:185,766,491 | G/A | — | likely benign |
| rs2473887213 | 3:185,766,492 | G/A | — | uncertain significance |
| rs116523688 | 3:185,766,515 | C/T | — | benign |
| rs138683352 | 3:185,766,547 | C/T | — | uncertain significance |
| rs115703632 | 3:185,766,562 | G/A | — | benign |
| rs116699819 | 3:185,766,566 | C/T | — | benign |
| rs79060173 | 3:185,766,711 | G/A | — | benign |
| rs74607992 | 3:185,770,096 | T/G | — | benign |
| rs75608688 | 3:185,770,754 | T/C | intron variant | — |
| rs59852126 | 3:185,774,813 | C/A | — | benign |
| rs2473898088 | 3:185,774,914 | T/C | — | uncertain significance |
| rs2473898855 | 3:185,775,280 | C/G | — | uncertain significance |
| rs4686727 | 3:185,781,965 | T/C | — | benign |
| rs376850706 | 3:185,783,644 | T/C | — | uncertain significance |
| rs1324052802 | 3:185,783,736 | G/C | — | uncertain significance |
| rs114869847 | 3:185,783,778 | C/T | — | uncertain significance |
| rs778213774 | 3:185,783,808 | A/G | — | uncertain significance |
| rs199751532 | 3:185,797,625 | G/C | — | uncertain significance |
| rs772183700 | 3:185,797,720 | T/G | — | pathogenic |
| rs537105512 | 3:185,797,801 | G/T | — | uncertain significance |
| rs78506201 | 3:185,797,811 | G/C | — | benign |
| rs780967082 | 3:185,797,870 | G/C | — | uncertain significance |
| rs377678658 | 3:185,797,886 | C/T | — | uncertain significance |
| rs77805826 | 3:185,798,025 | C/T | — | benign |
| rs113586704 | 3:185,798,728 | A/G | — | benign |
| rs200054486 | 3:185,798,863 | A/G | — | uncertain significance |
| rs745776119 | 3:185,798,878 | C/A | — | uncertain significance |
| rs752940067 | 3:185,798,886 | T/C | — | uncertain significance |
| rs2473932174 | 3:185,798,957 | A/C | — | likely benign |
| rs76880877 | 3:185,802,628 | A/C | downstream gene variant | — |
| rs57912727 | 3:185,804,583 | A/C | intron variant | — |
| rs75160594 | 3:185,810,481 | C/A | — | — |
| rs80080062 | 3:185,812,169 | C/G | intron variant | — |
| rs78785910 | 3:185,812,634 | G/A | intron variant | — |
| rs74607912 | 3:185,818,559 | G/A | downstream gene variant | — |
| rs112315086 | 3:185,823,474 | G/A | — | uncertain significance |
| rs2473962227 | 3:185,823,622 | C/T | — | uncertain significance |
| rs200588942 | 3:185,823,652 | G/A | — | likely benign |
| rs12631658 | 3:185,823,942 | C/T | — | benign |
| rs4686731 | 3:185,823,973 | C/T | — | benign |
| rs1516725 | 3:185,824,004 | T/C | intron variant | benign |
| rs1356291 | 3:185,824,644 | C/T | intron variant | — |
| rs869400 | 3:185,826,740 | T/G | regulatory region variant | — |
| rs73052033 | 3:185,828,465 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.