ATG4D
autophagy related 4D cysteine peptidase
Summary
Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1000543180 | 19:10,654,800 | C/T | — | uncertain significance |
| rs1020438514 | 19:10,654,848 | C/G | — | uncertain significance |
| rs1368019374 | 19:10,654,851 | C/G | — | uncertain significance |
| rs1347805493 | 19:10,654,933 | C/T | — | uncertain significance |
| rs1157840967 | 19:10,654,942 | C/T | — | uncertain significance |
| rs200278873 | 19:10,655,489 | G/A | — | conflicting classifications of pathogenicity |
| rs748069415 | 19:10,655,525 | A/G | — | uncertain significance |
| rs367877282 | 19:10,655,643 | G/T | — | uncertain significance |
| rs1347167708 | 19:10,655,644 | C/A | — | uncertain significance |
| rs752968419 | 19:10,655,699 | C/T | — | uncertain significance |
| rs144537283 | 19:10,655,775 | A/G | — | likely benign |
| rs73007355 | 19:10,656,684 | C/T | intron variant | — |
| rs775891566 | 19:10,657,538 | G/A | — | uncertain significance |
| rs142336391 | 19:10,657,547 | C/T | — | uncertain significance |
| rs776817919 | 19:10,657,548 | C/T | — | uncertain significance |
| rs924762101 | 19:10,657,557 | T/C | — | likely benign |
| rs376928245 | 19:10,657,599 | G/A | — | uncertain significance |
| rs565133715 | 19:10,657,614 | G/A | — | uncertain significance |
| rs758776289 | 19:10,657,644 | A/G | — | uncertain significance |
| rs577041430 | 19:10,657,650 | G/A | — | uncertain significance |
| rs749531227 | 19:10,657,658 | C/T | — | uncertain significance |
| rs776338785 | 19:10,657,712 | C/T | — | uncertain significance |
| rs368697131 | 19:10,657,713 | G/A | — | uncertain significance |
| rs146552285 | 19:10,657,770 | C/T | — | uncertain significance |
| rs138606386 | 19:10,657,871 | C/T | — | likely benign |
| rs149863781 | 19:10,657,890 | G/A | — | uncertain significance |
| rs148969864 | 19:10,659,583 | A/G | — | conflicting classifications of pathogenicity |
| rs2512476528 | 19:10,659,616 | C/T | — | uncertain significance |
| rs2304165 | 19:10,659,659 | C/T | — | benign |
| rs756766683 | 19:10,659,660 | G/A | — | uncertain significance |
| rs369166683 | 19:10,659,675 | G/A | — | uncertain significance |
| rs748483612 | 19:10,659,690 | G/A | — | uncertain significance |
| rs763066711 | 19:10,659,702 | T/G | — | uncertain significance |
| rs967214983 | 19:10,662,619 | C/G | — | uncertain significance |
| rs1289649383 | 19:10,662,741 | G/A | — | pathogenic |
| rs1401127662 | 19:10,662,783 | G/A | — | likely benign |
| rs1438904683 | 19:10,662,888 | A/G | — | uncertain significance |
| rs144333266 | 19:10,663,579 | G/A | — | uncertain significance |
| rs769398498 | 19:10,663,588 | C/T | — | uncertain significance |
| rs775975025 | 19:10,663,660 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.