USP2
ubiquitin specific peptidase 2
Summary
This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs777131363 | 11:119,227,552 | C/G | — | uncertain significance |
| rs1174909809 | 11:119,227,631 | C/T | — | uncertain significance |
| rs1315695037 | 11:119,227,898 | T/C | — | uncertain significance |
| rs2497118754 | 11:119,227,907 | T/G | — | uncertain significance |
| rs150768738 | 11:119,227,916 | G/A | — | uncertain significance |
| rs201752542 | 11:119,227,919 | A/G | missense variant | — |
| rs1950680357 | 11:119,227,965 | C/G | — | uncertain significance |
| rs149898423 | 11:119,227,996 | T/A | — | uncertain significance |
| rs1858413732 | 11:119,228,199 | T/C | — | uncertain significance |
| rs1308562553 | 11:119,228,747 | T/C | — | uncertain significance |
| rs1188207369 | 11:119,228,866 | A/C | — | uncertain significance |
| rs369164717 | 11:119,229,504 | G/A | — | uncertain significance |
| rs764894922 | 11:119,229,530 | C/T | — | uncertain significance |
| rs776596263 | 11:119,229,782 | C/T | — | uncertain significance |
| rs541673705 | 11:119,229,792 | C/T | — | uncertain significance |
| rs370666027 | 11:119,229,959 | G/A | — | uncertain significance |
| rs375539156 | 11:119,229,960 | G/A | — | uncertain significance |
| rs374783359 | 11:119,230,044 | T/C | — | uncertain significance |
| rs368079550 | 11:119,230,253 | C/T | — | likely benign |
| rs2497137408 | 11:119,230,925 | C/G | — | uncertain significance |
| rs2195525 | 11:119,235,404 | C/T | intron variant | — |
| rs10892354 | 11:119,238,381 | T/C | regulatory region variant | — |
| rs200564198 | 11:119,243,422 | C/T | — | likely benign |
| rs771186824 | 11:119,243,445 | C/T | — | uncertain significance |
| rs369895568 | 11:119,243,487 | G/A | — | uncertain significance |
| rs35224356 | 11:119,243,502 | G/A | — | benign |
| rs146005919 | 11:119,243,580 | C/T | — | uncertain significance |
| rs199985069 | 11:119,243,595 | A/T | — | uncertain significance |
| rs541986290 | 11:119,243,638 | G/A | — | uncertain significance |
| rs1267216119 | 11:119,243,641 | C/T | — | uncertain significance |
| rs572538972 | 11:119,243,679 | A/C | — | uncertain significance |
| rs376129505 | 11:119,243,712 | C/T | — | uncertain significance |
| rs766541835 | 11:119,243,842 | C/T | — | uncertain significance |
| rs142420599 | 11:119,243,856 | C/T | — | uncertain significance |
| rs2497177933 | 11:119,243,862 | C/T | — | uncertain significance |
| rs199646016 | 11:119,243,875 | C/A | — | uncertain significance |
| rs774555338 | 11:119,243,905 | T/G | — | uncertain significance |
| rs79464246 | 11:119,243,912 | C/T | — | benign |
| rs113893557 | 11:119,243,941 | C/T | — | uncertain significance |
| rs138072155 | 11:119,243,957 | G/A | — | benign |
| rs145987190 | 11:119,243,965 | G/A | — | uncertain significance |
| rs767176688 | 11:119,244,006 | C/T | — | uncertain significance |
| rs142496697 | 11:119,244,033 | G/A | — | likely benign |
| rs2497179591 | 11:119,244,148 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.