ENDOG
Chr 9endonuclease G
The protein is a mitochondrial endonuclease that cleaves DNA at GC tracts, generates RNA primers required for mitochondrial DNA replication, and promotes autophagy through mTOR pathway suppression. Loss-of-function mutations cause autosomal dominant disease, though the specific clinical phenotype is not established in the provided information. The protein appears to be loss-of-function intolerant based on constraint metrics, suggesting mutations likely cause disease through dominant-negative or haploinsufficiency mechanisms.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ENDOG · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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