G6PC2 (Glucose-6-phosphatase 2) variants and mutations

G6PC2 (also known as Glucose-6-phosphatase 2) is a human protein-coding gene encoding a glucose-6-phosphatase 2 protein. It modulates the glucose sensitivity of pancreatic beta cells by hydrolyzing glucose-6-phosphate within the endoplasmic reticulum. Common variants strongly influence fasting glucose levels without necessarily causing diabetes, reflecting a role in setting the beta-cell glucose threshold. This analysis covers 770 G6PC2 variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes glucose metabolism disease, gestational diabetes, and inborn carbohydrate metabolic disorder. Example G6PC2 variants include D2N, D2G, and F3S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable G6PC2 variants

Examples include D2N, D2G, F3S, F3L, L4F, L4I, L4L, H5D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.