EI24
Chr 11EI24 autophagy associated transmembrane protein
Also known as: EPG4, PIG8, TP53I8
This gene encodes a tumor suppressor protein that acts as a negative growth regulator through the p53-mediated apoptosis pathway and regulates formation of degradative autolysosomes during autophagy. The gene is highly constrained against loss-of-function variation, but pathogenic variants and associated clinical phenotypes have not yet been established in pediatric patients. Further research is needed to determine if EI24 mutations cause recognizable neurodevelopmental or neurological disorders in children.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
102 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 | 59 | 0 | 59 |
Likely Pathogenic | 0 | 1 | 2 | 0 | 3 |
VUS | 0 | 19 | 4 | 0 | 23 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 20 | 65 | 0 | 85 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EI24 · 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