UBE2L3
ubiquitin conjugating enzyme E2 L3
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 (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs5754075 | 22:21,911,220 | G/A | regulatory region variant | — |
| rs390387 | 22:21,912,246 | A/G | — | — |
| rs390408 | 22:21,912,272 | A/G | — | — |
| rs5754100 | 22:21,916,166 | T/C | intron variant | — |
| rs5754102 | 22:21,916,272 | C/A | intron variant | — |
| rs5754104 | 22:21,916,361 | G/A | — | — |
| rs131654 | 22:21,917,190 | G/T | intron variant | — |
| rs131656 | 22:21,917,450 | G/A | intron variant | — |
| rs5998509 | 22:21,917,479 | C/T | intron variant | — |
| rs131657 | 22:21,917,550 | T/C | — | — |
| rs131658 | 22:21,917,626 | C/T | — | — |
| rs131659 | 22:21,917,708 | A/G | intron variant | — |
| rs131660 | 22:21,917,757 | G/A | intron variant | — |
| rs138665726 | 22:21,917,859 | A/G | — | — |
| rs59391722 | 22:21,920,817 | G/C | — | benign |
| rs140489 | 22:21,921,294 | G/A | regulatory region variant | — |
| rs2194827 | 22:21,921,643 | C/T | regulatory region variant | — |
| rs140490 | 22:21,921,686 | G/A | — | — |
| rs11089620 | 22:21,922,456 | C/G | regulatory region variant | — |
| rs2266959 | 22:21,922,904 | G/T | regulatory region variant | — |
| rs79771353 | 22:21,923,104 | G/A | regulatory region variant | — |
| rs2266961 | 22:21,928,597 | C/G | regulatory region variant | — |
| rs181359 | 22:21,928,641 | G/A | regulatory region variant | — |
| rs181361 | 22:21,929,566 | A/T | intron variant | — |
| rs181362 | 22:21,932,068 | C/T | intron variant | — |
| rs181363 | 22:21,932,264 | A/G | intron variant | — |
| rs117568184 | 22:21,934,008 | C/T | intron variant | — |
| rs66534072 | 22:21,936,152 | C/A | — | — |
| rs5998576 | 22:21,938,590 | C/G | — | — |
| rs5754217 | 22:21,939,675 | G/T | regulatory region variant | — |
| rs5749495 | 22:21,940,310 | A/G | intron variant | — |
| rs5998599 | 22:21,941,981 | A/G | regulatory region variant | — |
| rs5754234 | 22:21,942,978 | A/G | — | — |
| rs5749502 | 22:21,945,096 | T/A | regulatory region variant | — |
| rs73166630 | 22:21,945,978 | G/T | — | — |
| rs2266963 | 22:21,947,467 | C/G | regulatory region variant | — |
| rs4821104 | 22:21,950,405 | A/G | intron variant | — |
| rs5754323 | 22:21,957,992 | T/C | intron variant | — |
| rs5754344 | 22:21,963,786 | A/T | — | — |
| rs4821112 | 22:21,964,761 | G/A | intron variant | — |
| rs2517516658 | 22:21,965,153 | C/G | — | uncertain significance |
| rs61133050 | 22:21,965,298 | C/G | — | benign |
| rs5998672 | 22:21,966,442 | G/A | intron variant | — |
| rs8137950 | 22:21,969,640 | T/G | — | — |
| rs4821114 | 22:21,970,810 | G/A | — | — |
| rs738129 | 22:21,971,041 | C/G | — | — |
| rs8139079 | 22:21,971,632 | T/G | intron variant | — |
| rs4821116 | 22:21,973,319 | C/T | intron variant | — |
| rs7445 | 22:21,977,047 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.