USP20
ubiquitin specific peptidase 20
Summary
This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1240913749 | 9:132,614,851 | A/T | — | uncertain significance |
| rs1361297026 | 9:132,620,753 | A/G | — | uncertain significance |
| rs191133247 | 9:132,620,767 | G/A | — | uncertain significance |
| rs758400384 | 9:132,620,815 | G/A | — | uncertain significance |
| rs746825367 | 9:132,620,830 | C/T | — | uncertain significance |
| rs36086252 | 9:132,620,855 | C/A | — | benign |
| rs114574340 | 9:132,622,627 | G/A | intron variant | — |
| rs772434088 | 9:132,623,223 | C/T | — | uncertain significance |
| rs372842481 | 9:132,623,833 | A/G | — | uncertain significance |
| rs201244358 | 9:132,623,837 | A/G | — | uncertain significance |
| rs182928178 | 9:132,625,502 | C/T | — | benign |
| rs754300902 | 9:132,627,637 | A/G | — | uncertain significance |
| rs2490730015 | 9:132,630,323 | C/T | — | uncertain significance |
| rs764574736 | 9:132,630,342 | C/T | — | uncertain significance |
| rs368480426 | 9:132,630,343 | G/A | synonymous variant | — |
| rs368889264 | 9:132,630,419 | C/T | — | uncertain significance |
| rs759073791 | 9:132,630,456 | C/T | — | uncertain significance |
| rs61760212 | 9:132,630,457 | G/A | — | benign |
| rs201112284 | 9:132,630,482 | G/A | — | uncertain significance |
| rs369632172 | 9:132,630,515 | G/A | — | uncertain significance |
| rs373800274 | 9:132,630,581 | C/G | — | uncertain significance |
| rs201314690 | 9:132,630,677 | G/A | — | likely benign |
| rs752734968 | 9:132,630,678 | C/T | — | likely benign |
| rs200928022 | 9:132,630,679 | G/A | — | benign |
| rs377337518 | 9:132,630,694 | G/A | — | benign |
| rs554026281 | 9:132,630,702 | G/A | — | uncertain significance |
| rs201958872 | 9:132,630,717 | G/T | — | uncertain significance |
| rs765385557 | 9:132,630,722 | A/G | — | uncertain significance |
| rs531993620 | 9:132,630,723 | C/T | — | uncertain significance |
| rs540729891 | 9:132,631,164 | C/T | — | uncertain significance |
| rs751125529 | 9:132,631,176 | C/T | — | uncertain significance |
| rs2490735429 | 9:132,631,182 | T/C | — | uncertain significance |
| rs781017371 | 9:132,631,188 | C/T | — | uncertain significance |
| rs774492034 | 9:132,631,217 | G/C | — | uncertain significance |
| rs376078669 | 9:132,631,229 | C/G | — | uncertain significance |
| rs2490735820 | 9:132,631,231 | C/G | — | uncertain significance |
| rs376045263 | 9:132,631,269 | G/A | — | uncertain significance |
| rs763171145 | 9:132,631,630 | C/T | — | uncertain significance |
| rs781493140 | 9:132,631,681 | G/C | — | uncertain significance |
| rs139682247 | 9:132,631,970 | C/T | — | uncertain significance |
| rs779690614 | 9:132,632,104 | A/G | — | uncertain significance |
| rs200401245 | 9:132,632,122 | C/T | — | uncertain significance |
| rs775561732 | 9:132,632,754 | A/G | — | uncertain significance |
| rs201027017 | 9:132,632,825 | G/T | — | uncertain significance |
| rs199613570 | 9:132,635,785 | G/A | — | uncertain significance |
| rs1437309941 | 9:132,636,859 | T/C | — | uncertain significance |
| rs368776766 | 9:132,637,137 | G/A | — | uncertain significance |
| rs372259478 | 9:132,637,176 | G/A | — | uncertain significance |
| rs1036982499 | 9:132,637,214 | G/C | — | uncertain significance |
| rs374168943 | 9:132,637,605 | G/T | — | uncertain significance |
| rs1174709618 | 9:132,637,642 | C/G | — | uncertain significance |
| rs376110318 | 9:132,637,665 | C/T | — | uncertain significance |
| rs769143727 | 9:132,637,681 | G/A | — | uncertain significance |
| rs766157763 | 9:132,637,711 | C/T | — | uncertain significance |
| rs2490767259 | 9:132,637,884 | T/A | — | uncertain significance |
| rs2490767286 | 9:132,637,889 | C/T | — | uncertain significance |
| rs574441817 | 9:132,637,898 | G/A | — | uncertain significance |
| rs750453523 | 9:132,638,428 | G/A | — | uncertain significance |
| rs372138760 | 9:132,638,486 | G/A | — | uncertain significance |
| rs200775761 | 9:132,638,516 | A/G | — | uncertain significance |
| rs777596088 | 9:132,640,638 | G/A | — | uncertain significance |
| rs377374790 | 9:132,640,696 | C/T | — | uncertain significance |
| rs757475294 | 9:132,640,705 | A/G | — | uncertain significance |
| rs773835182 | 9:132,641,915 | T/C | — | uncertain significance |
| rs1364427782 | 9:132,642,422 | C/T | — | uncertain significance |
| rs202062563 | 9:132,642,460 | G/A | — | uncertain significance |
| rs200854092 | 9:132,642,472 | C/T | — | uncertain significance |
| rs756515595 | 9:132,642,514 | G/A | — | uncertain significance |
| rs61999273 | 9:132,642,528 | C/T | — | benign |
| rs374645414 | 9:132,642,547 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.