ATG4B
autophagy related 4B 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 encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1237125437 | 2:242,590,449 | G/A | — | uncertain significance |
| rs1033902939 | 2:242,590,473 | C/G | — | uncertain significance |
| rs373558820 | 2:242,590,477 | G/C | — | uncertain significance |
| rs369244048 | 2:242,590,490 | G/A | — | uncertain significance |
| rs111430905 | 2:242,590,531 | C/T | — | benign |
| rs767952897 | 2:242,590,687 | G/A | — | uncertain significance |
| rs1297451770 | 2:242,590,690 | A/G | — | uncertain significance |
| rs878985852 | 2:242,592,927 | G/T | — | uncertain significance |
| rs373742405 | 2:242,592,972 | G/A | — | uncertain significance |
| rs910224471 | 2:242,593,010 | C/T | — | uncertain significance |
| rs1464289611 | 2:242,593,016 | C/A | — | uncertain significance |
| rs1009961799 | 2:242,593,996 | A/G | — | uncertain significance |
| rs375063936 | 2:242,594,007 | C/G | — | uncertain significance |
| rs201801584 | 2:242,594,015 | A/G | — | uncertain significance |
| rs551958855 | 2:242,597,348 | G/A | — | — |
| rs2549689151 | 2:242,598,572 | A/G | — | uncertain significance |
| rs775827018 | 2:242,598,588 | T/G | — | uncertain significance |
| rs535295714 | 2:242,606,052 | C/T | — | likely benign |
| rs2549696193 | 2:242,606,084 | C/T | — | uncertain significance |
| rs368301151 | 2:242,606,104 | T/G | — | uncertain significance |
| rs199556345 | 2:242,606,119 | G/A | — | uncertain significance |
| rs1054245776 | 2:242,606,122 | C/T | — | uncertain significance |
| rs1384497129 | 2:242,606,128 | T/A | — | uncertain significance |
| rs751807467 | 2:242,606,144 | C/G | — | uncertain significance |
| rs780121558 | 2:242,606,162 | A/T | — | uncertain significance |
| rs749191852 | 2:242,606,168 | C/T | — | uncertain significance |
| rs2068790497 | 2:242,606,204 | T/G | — | uncertain significance |
| rs371005440 | 2:242,606,230 | G/A | — | uncertain significance |
| rs1451697892 | 2:242,608,041 | C/T | — | uncertain significance |
| rs757778578 | 2:242,608,054 | C/T | — | uncertain significance |
| rs771992890 | 2:242,608,075 | C/T | — | uncertain significance |
| rs1402382749 | 2:242,608,095 | G/A | — | uncertain significance |
| rs138274580 | 2:242,610,172 | A/G | — | uncertain significance |
| rs147409061 | 2:242,610,729 | G/A | — | likely benign |
| rs1439410077 | 2:242,611,618 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.