USP15
ubiquitin specific peptidase 15
Summary
This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 2. [provided by RefSeq, Nov 2011]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs56117810 | 12:62,656,247 | A/G | upstream gene variant | — |
| rs1074958 | 12:62,664,272 | C/T | intron variant | — |
| rs7975065 | 12:62,680,603 | G/A | intron variant | — |
| rs766502813 | 12:62,688,057 | G/A | — | uncertain significance |
| rs11174420 | 12:62,696,599 | C/T | — | benign |
| rs2541188125 | 12:62,715,268 | A/G | — | uncertain significance |
| rs768407273 | 12:62,719,682 | T/A | — | uncertain significance |
| rs2065109340 | 12:62,719,704 | T/C | — | uncertain significance |
| rs73137521 | 12:62,720,287 | T/C | intron variant | — |
| rs546173111 | 12:62,726,596 | A/C | — | — |
| rs748714475 | 12:62,749,142 | A/G | — | likely benign |
| rs140380674 | 12:62,749,194 | C/G | — | uncertain significance |
| rs12814369 | 12:62,766,966 | A/C | — | — |
| rs7970028 | 12:62,774,082 | C/T | intron variant | — |
| rs753360344 | 12:62,775,424 | G/A | — | uncertain significance |
| rs56298756 | 12:62,777,565 | G/T | intron variant | — |
| rs952536260 | 12:62,777,624 | C/G | — | uncertain significance |
| rs2540640469 | 12:62,777,901 | G/T | — | uncertain significance |
| rs139166271 | 12:62,777,920 | T/C | — | uncertain significance |
| rs36011077 | 12:62,777,981 | A/G | — | likely benign |
| rs2044846 | 12:62,778,065 | A/G | — | benign |
| rs1206098999 | 12:62,783,243 | A/G | — | uncertain significance |
| rs910931954 | 12:62,783,249 | T/A | — | uncertain significance |
| rs949391728 | 12:62,783,389 | T/C | — | uncertain significance |
| rs746675402 | 12:62,783,399 | T/C | — | likely benign |
| rs370305930 | 12:62,783,429 | C/T | — | likely benign |
| rs1229664119 | 12:62,783,617 | G/A | — | uncertain significance |
| rs753913214 | 12:62,784,651 | G/A | — | uncertain significance |
| rs202037541 | 12:62,784,700 | G/T | — | uncertain significance |
| rs2540660683 | 12:62,784,721 | G/A | — | uncertain significance |
| rs1243621978 | 12:62,784,738 | A/T | — | uncertain significance |
| rs2540661743 | 12:62,784,990 | C/G | — | uncertain significance |
| rs139161856 | 12:62,785,037 | T/G | — | uncertain significance |
| rs11174457 | 12:62,785,663 | C/T | — | benign |
| rs771914572 | 12:62,786,858 | C/G | — | uncertain significance |
| rs2540667834 | 12:62,786,909 | G/A | — | uncertain significance |
| rs374612352 | 12:62,790,124 | C/A | — | uncertain significance |
| rs757797432 | 12:62,798,106 | A/G | — | uncertain significance |
| rs1438565064 | 12:62,798,111 | A/G | — | uncertain significance |
| rs2540696801 | 12:62,798,142 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.