RNF217
ring finger protein 217
Summary
This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7772667 | 6:125,324,761 | A/G | intron variant | — |
| rs9321013 | 6:125,330,921 | G/T | — | — |
| rs199958328 | 6:125,366,390 | A/C | — | uncertain significance |
| rs150679432 | 6:125,366,487 | G/A | — | uncertain significance |
| rs770149250 | 6:125,366,489 | A/G | — | uncertain significance |
| rs1471090870 | 6:125,366,541 | A/C | — | uncertain significance |
| rs760630038 | 6:125,366,550 | G/T | — | uncertain significance |
| rs186785612 | 6:125,375,883 | C/T | intron variant | — |
| rs1787582446 | 6:125,379,097 | C/T | — | uncertain significance |
| rs201025136 | 6:125,379,136 | C/G | — | uncertain significance |
| rs2534272284 | 6:125,379,187 | T/A | — | uncertain significance |
| rs867778848 | 6:125,397,806 | C/G | — | uncertain significance |
| rs73580047 | 6:125,397,891 | G/A | — | risk factor |
| rs147762287 | 6:125,397,902 | T/C | — | uncertain significance |
| rs369691588 | 6:125,403,619 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.