UBE2G2
ubiquitin conjugating enzyme E2 G2
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. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Known Variants5 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs185788024 | 21:46,191,330 | T/G | — | uncertain significance |
| rs1555959920 | 21:46,191,344 | T/C | — | uncertain significance |
| rs1057518338 | 21:46,193,517 | C/T | — | uncertain significance |
| rs1555962360 | 21:46,207,996 | G/T | — | uncertain significance |
| rs567329522 | 21:46,213,916 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.