ZNG1E
Chr 9Zn regulated GTPase metalloprotein activator 1E
Also known as: CBWD3, CBWD5, DC36
This protein functions as a zinc chaperone that transfers zinc cofactors to target metalloproteins, specifically catalyzing zinc insertion into methionine aminopeptidase METAP1 to activate protein maturation processes. The gene is not highly constrained against loss-of-function variants, suggesting that haploinsufficiency may not be the primary disease mechanism. No well-established disease associations have been reported for mutations in this gene.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
ZNG1E · 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 →No publications found for ZNG1E
External Resources
Links to major genomics databases and tools