UBE2H
ubiquitin conjugating enzyme E2 H
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 sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Feb 2011]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1253623989 | 7:129,474,850 | C/A | — | uncertain significance |
| rs529670544 | 7:129,474,870 | C/T | — | likely benign |
| rs375884538 | 7:129,474,885 | G/A | — | likely benign |
| rs12539800 | 7:129,479,138 | T/C | synonymous variant | benign |
| rs777257013 | 7:129,497,412 | G/A | — | likely benign |
| rs374456447 | 7:129,507,624 | A/T | — | — |
| rs1554434216 | 7:129,519,477 | A/G | — | uncertain significance |
| rs17559301 | 7:129,531,693 | T/C | intron variant | — |
| rs56323117 | 7:129,546,052 | C/T | intron variant | — |
| rs62491533 | 7:129,564,134 | T/C | intron variant | — |
| rs62489376 | 7:129,583,934 | T/C | intron variant | — |
| rs80115810 | 7:129,584,604 | G/A | regulatory region variant | — |
| rs80349960 | 7:129,589,868 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.