EYA3
EYA transcriptional coactivator and phosphatase 3
Summary
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs771486693 | 1:28,301,014 | A/G | — | uncertain significance |
| rs144061325 | 1:28,304,976 | C/G | — | uncertain significance |
| rs757473934 | 1:28,316,253 | G/A | — | uncertain significance |
| rs371287659 | 1:28,319,955 | C/T | — | uncertain significance |
| rs530106628 | 1:28,320,015 | C/T | — | uncertain significance |
| rs148584287 | 1:28,326,481 | T/C | — | uncertain significance |
| rs375368234 | 1:28,326,569 | C/T | — | benign |
| rs985347978 | 1:28,337,507 | C/T | — | uncertain significance |
| rs769248577 | 1:28,337,594 | T/A | — | uncertain significance |
| rs2522874747 | 1:28,339,632 | T/A | — | uncertain significance |
| rs371084495 | 1:28,339,675 | G/A | — | uncertain significance |
| rs1313821288 | 1:28,339,700 | T/C | — | uncertain significance |
| rs755730284 | 1:28,354,366 | G/A | — | uncertain significance |
| rs143637921 | 1:28,362,076 | T/C | — | uncertain significance |
| rs769229164 | 1:28,362,159 | G/A | — | uncertain significance |
| rs2523128594 | 1:28,362,160 | A/C | — | uncertain significance |
| rs546355 | 1:28,364,156 | T/A | — | — |
| rs189558680 | 1:28,365,342 | C/T | — | likely benign |
| rs149459415 | 1:28,369,127 | G/T | — | uncertain significance |
| rs72658347 | 1:28,389,310 | C/A | — | — |
| rs12144063 | 1:28,406,047 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.