USP4
ubiquitin specific peptidase 4
Summary
The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147701561 | 3:49,315,843 | A/C | — | uncertain significance |
| rs1313831176 | 3:49,315,859 | T/C | — | uncertain significance |
| rs778327690 | 3:49,316,276 | C/T | — | uncertain significance |
| rs775772757 | 3:49,318,194 | G/T | — | uncertain significance |
| rs1206327611 | 3:49,318,219 | T/C | — | uncertain significance |
| rs1575598495 | 3:49,318,256 | G/A | — | likely benign |
| rs41290700 | 3:49,321,424 | T/C | — | benign |
| rs142835015 | 3:49,321,436 | C/T | — | uncertain significance |
| rs139828327 | 3:49,321,437 | G/A | — | likely benign |
| rs186545761 | 3:49,321,481 | G/A | — | uncertain significance |
| rs2470878443 | 3:49,321,490 | G/A | — | uncertain significance |
| rs2047073294 | 3:49,321,908 | T/C | — | uncertain significance |
| rs369666364 | 3:49,321,930 | T/C | — | uncertain significance |
| rs147532914 | 3:49,321,998 | C/G | — | uncertain significance |
| rs2304442 | 3:49,322,027 | T/A | intron variant | — |
| rs768056742 | 3:49,322,313 | C/T | — | uncertain significance |
| rs2470881465 | 3:49,323,555 | C/T | — | uncertain significance |
| rs761114777 | 3:49,323,560 | G/C | — | uncertain significance |
| rs200730474 | 3:49,323,658 | C/A | — | uncertain significance |
| rs2047089552 | 3:49,323,662 | C/T | — | uncertain significance |
| rs1472490548 | 3:49,323,732 | G/C | — | uncertain significance |
| rs748763135 | 3:49,323,747 | C/T | — | uncertain significance |
| rs7374375 | 3:49,324,455 | A/G | — | — |
| rs9811047 | 3:49,328,833 | A/G | — | — |
| rs149131437 | 3:49,330,026 | T/C | — | likely benign |
| rs200666714 | 3:49,331,846 | C/G | — | uncertain significance |
| rs9311440 | 3:49,331,864 | T/C | — | benign |
| rs140546798 | 3:49,331,950 | T/A | — | likely benign |
| rs762919839 | 3:49,331,999 | G/A | — | uncertain significance |
| rs75394422 | 3:49,333,079 | T/C | regulatory region variant | — |
| rs35395347 | 3:49,334,797 | A/G | regulatory region variant | — |
| rs746574786 | 3:49,336,023 | C/T | — | uncertain significance |
| rs747632858 | 3:49,336,032 | C/T | — | uncertain significance |
| rs1468404479 | 3:49,336,044 | C/T | — | uncertain significance |
| rs750269907 | 3:49,336,064 | C/T | — | uncertain significance |
| rs536981448 | 3:49,339,873 | G/A | — | uncertain significance |
| rs924938161 | 3:49,339,887 | T/C | — | uncertain significance |
| rs1559470675 | 3:49,339,957 | C/T | — | uncertain significance |
| rs371144680 | 3:49,343,202 | G/T | — | likely benign |
| rs200375497 | 3:49,343,212 | T/C | — | uncertain significance |
| rs1182329297 | 3:49,343,224 | A/C | — | uncertain significance |
| rs149972755 | 3:49,346,980 | C/T | intron variant | — |
| rs2470920993 | 3:49,348,144 | T/C | — | uncertain significance |
| rs149837279 | 3:49,348,949 | C/G | — | uncertain significance |
| rs777154609 | 3:49,349,028 | T/C | — | uncertain significance |
| rs533521902 | 3:49,362,430 | G/A | — | uncertain significance |
| rs1455685520 | 3:49,363,170 | T/A | — | uncertain significance |
| rs1192832685 | 3:49,363,175 | T/C | — | uncertain significance |
| rs150772995 | 3:49,363,239 | C/T | — | uncertain significance |
| rs34142492 | 3:49,363,759 | A/C | — | — |
| rs12497569 | 3:49,364,830 | G/A | intron variant | — |
| rs375989870 | 3:49,365,128 | G/A | — | likely benign |
| rs143074429 | 3:49,365,166 | G/T | — | uncertain significance |
| rs536745381 | 3:49,365,180 | G/A | — | uncertain significance |
| rs2047659491 | 3:49,372,919 | T/G | — | uncertain significance |
| rs766293549 | 3:49,372,958 | T/C | — | uncertain significance |
| rs763079215 | 3:49,377,388 | T/C | — | uncertain significance |
| rs2470971200 | 3:49,377,389 | T/G | — | uncertain significance |
| rs1486547370 | 3:49,377,414 | G/C | — | uncertain significance |
| rs143533593 | 3:49,377,436 | G/A | — | uncertain significance |
| rs199948824 | 3:49,377,453 | G/A | — | uncertain significance |
| rs183977518 | 3:49,378,793 | A/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.