UBE2D3
ubiquitin conjugating enzyme E2 D3
Summary
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. [provided by RefSeq, Jan 2017]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs223426 | 4:103,722,487 | G/A | intron variant | — |
| rs223423 | 4:103,725,894 | G/A | intron variant | — |
| rs223409 | 4:103,736,180 | T/G | intron variant | — |
| rs56095122 | 4:103,736,838 | A/G | intron variant | — |
| rs223397 | 4:103,742,651 | T/A | — | — |
| rs223376 | 4:103,757,323 | T/A | downstream gene variant | — |
| rs223371 | 4:103,759,189 | T/A | — | — |
| rs223361 | 4:103,769,304 | T/C | downstream gene variant | — |
| rs223337 | 4:103,786,371 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.