ARIH2
ariadne RBR E3 ubiquitin protein ligase 2
Summary
The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been determined yet. [provided by RefSeq, Nov 2015]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13092715 | 3:48,958,706 | T/A | — | — |
| rs7373072 | 3:48,960,017 | T/A | upstream gene variant | — |
| rs13072911 | 3:48,962,128 | T/G | intron variant | — |
| rs2085530621 | 3:48,963,368 | C/G | — | — |
| rs1559717167 | 3:48,965,190 | A/C | — | uncertain significance |
| rs73082325 | 3:48,981,024 | C/G | intron variant | — |
| rs7636057 | 3:48,992,582 | C/A | — | — |
| rs112292811 | 3:48,994,119 | G/T | — | — |
| rs73082331 | 3:48,994,943 | G/A | regulatory region variant | — |
| rs778423872 | 3:49,002,363 | A/G | — | uncertain significance |
| rs527850935 | 3:49,002,380 | G/T | — | uncertain significance |
| rs367621951 | 3:49,004,558 | G/A | — | uncertain significance |
| rs201245336 | 3:49,004,687 | G/A | — | likely benign |
| rs780202533 | 3:49,004,699 | G/A | — | uncertain significance |
| rs763886213 | 3:49,005,989 | C/G | — | uncertain significance |
| rs775632661 | 3:49,008,079 | C/T | — | uncertain significance |
| rs866392304 | 3:49,011,208 | G/A | — | uncertain significance |
| rs11716614 | 3:49,017,208 | C/G | downstream gene variant | — |
| rs769571023 | 3:49,019,144 | G/A | — | uncertain significance |
| rs2471496124 | 3:49,020,406 | C/G | — | uncertain significance |
| rs2471500241 | 3:49,020,629 | C/T | — | likely pathogenic |
| rs2471500509 | 3:49,020,657 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.