ATG4B
Chr 2autophagy related 4B cysteine peptidase
Also known as: APG4B, AUTL1, HsAPG4B
ATG4B encodes a cysteine protease essential for autophagy, mediating both proteolytic activation and delipidation of ATG8 family proteins required for cellular degradation of damaged organelles and proteins. The gene is highly constrained against loss-of-function variants (pLI 0.96, LOEUF 0.34), but no specific human disease has been definitively associated with ATG4B mutations to date. Any potential disorders would likely follow autosomal recessive inheritance given the gene's essential cellular function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
220 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 92 | 0 | 92 |
Likely Pathogenic | 0 | 0 | 12 | 0 | 12 |
VUS | 1 | 63 | 23 | 0 | 87 |
Likely Benign | 0 | 1 | 1 | 2 | 4 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 1 | 64 | 129 | 2 | 196 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ATG4B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools