UBE2D2
ubiquitin conjugating enzyme E2 D2
Summary
Regulated degradation of misfolded, damaged or short-lived proteins in eukaryotes occurs via the ubiquitin (Ub)-proteasome system (UPS). An integral part of the UPS system is the ubiquitination of target proteins and covalent linkage of Ub-containing proteins to form polymeric chains, marking them as targets for 26S proteasome-mediated degradation. Ubiquitination of proteins is mediated by a cascade of enzymes which includes E1 (ubiquitin activating), E2 (ubiquitin conjugating), and E3 (ubiquitin ligases) enzymes. This gene encodes a member of the E2 enzyme family. Substrates of this enzyme include the tumor suppressor protein p53 and peroxisomal biogenesis factor 5 (PEX5). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Known Variants7 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs75575958 | 5:138,911,257 | T/G | intron variant | — |
| rs113845783 | 5:138,912,182 | C/T | intron variant | — |
| rs75538730 | 5:138,912,250 | C/T | intron variant | — |
| rs34255404 | 5:138,935,580 | G/A | upstream gene variant | — |
| rs261532 | 5:138,949,362 | G/A | — | — |
| rs113666880 | 5:138,953,973 | G/A | intron variant | — |
| rs1188872187 | 5:138,994,191 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.