ATG5
autophagy related 5
Summary
The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12201458 | 6:106,642,687 | C/A | regulatory region variant | — |
| rs763708645 | 6:106,649,859 | T/C | — | likely benign |
| rs2245214 | 6:106,662,741 | C/G | intron variant | — |
| rs9372120 | 6:106,667,535 | T/G | intron variant | — |
| rs665791 | 6:106,674,850 | G/C | — | — |
| rs62422878 | 6:106,676,470 | C/T | intron variant | — |
| rs3827644 | 6:106,685,195 | G/C | intron variant | — |
| rs3804329 | 6:106,686,427 | A/G | intron variant | — |
| rs2114513942 | 6:106,696,039 | A/T | — | uncertain significance |
| rs34601838 | 6:106,727,570 | T/C | — | benign |
| rs34793250 | 6:106,727,629 | T/C | — | benign |
| rs1131692265 | 6:106,727,648 | T/A | — | no classifications from unflagged records |
| rs147641218 | 6:106,727,653 | T/C | — | uncertain significance |
| rs117127057 | 6:106,740,989 | T/C | — | benign |
| rs77859116 | 6:106,756,282 | T/C | — | benign |
| rs671116 | 6:106,760,597 | A/G | regulatory region variant | — |
| rs1582692575 | 6:106,763,977 | T/C | — | uncertain significance |
| rs114109860 | 6:106,764,018 | T/C | — | benign |
| rs1333025395 | 6:106,764,022 | G/C | — | uncertain significance |
| rs573775 | 6:106,764,866 | G/A | intron variant | — |
| rs803360 | 6:106,766,129 | G/A | — | — |
| rs190825454 | 6:106,773,627 | G/T | — | — |
| rs510432 | 6:106,774,030 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.