OTUB2
OTU deubiquitinase, ubiquitin aldehyde binding 2
Summary
This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. [provided by RefSeq, Aug 2011]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs181157443 | 14:94,497,969 | T/G | intron variant | — |
| rs760251668 | 14:94,503,807 | C/T | — | uncertain significance |
| rs144803702 | 14:94,503,808 | G/A | — | likely benign |
| rs753476137 | 14:94,503,811 | G/A | — | uncertain significance |
| rs777395803 | 14:94,505,312 | C/G | — | uncertain significance |
| rs371840242 | 14:94,505,320 | A/C | — | uncertain significance |
| rs34574381 | 14:94,505,330 | G/A | — | uncertain significance |
| rs746188935 | 14:94,505,336 | C/T | — | uncertain significance |
| rs774539678 | 14:94,505,351 | G/C | — | uncertain significance |
| rs374972366 | 14:94,510,327 | C/T | — | uncertain significance |
| rs770413129 | 14:94,510,953 | G/A | — | uncertain significance |
| rs779026394 | 14:94,511,044 | C/T | — | uncertain significance |
| rs759113013 | 14:94,511,064 | C/G | — | uncertain significance |
| rs746198025 | 14:94,511,088 | A/G | — | uncertain significance |
| rs746638881 | 14:94,511,116 | T/A | — | uncertain significance |
| rs773553255 | 14:94,512,081 | C/T | — | likely benign |
| rs763598402 | 14:94,512,155 | G/A | — | uncertain significance |
| rs371900417 | 14:94,512,182 | G/A | — | uncertain significance |
| rs1458088560 | 14:94,512,204 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.