ZG16B
Chr 16zymogen granule protein 16B
Also known as: EECP, HRPE773, JCLN2, PAUF, PRO1567
The ZG16B protein functions as a lectin that binds carbohydrates and helps maintain oral microbiome homeostasis by capturing and regulating commensal bacteria growth. Pathogenic variants in ZG16B cause neurodevelopmental disorders with intellectual disability, seizures, and dysmorphic features, following an autosomal recessive inheritance pattern. The gene shows low constraint to loss-of-function variants (pLI 0.0003, LOEUF 1.85), suggesting tolerance to protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is gain-of-function.
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
ZG16B · 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