SLC30A8 (Q8IWU4) variants and mutations

SLC30A8 (also known as Q8IWU4) is a human protein-coding gene encoding a proton-coupled zinc antiporter protein. It transports zinc into insulin secretory granules, supporting insulin crystallization, storage, and beta-cell function. Common variants influence type 2 diabetes risk, while rare loss-of-function variants are associated with reduced disease risk in population studies. This analysis covers 716 SLC30A8 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes type 2 diabetes mellitus, diabetes mellitus, and diabetic retinopathy. Example SLC30A8 variants include M1?, E2G, and E2K.

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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable SLC30A8 variants

Examples include M1?, E2G, E2K, E2E, F3I, L4F, L4P, L4L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.