SLC5A2 (Sodium/glucose cotransporter 2) variants and mutations

SLC5A2 (also known as Sodium/glucose cotransporter 2) is a human protein-coding gene encoding a sodium/glucose cotransporter 2 protein. It reabsorbs most filtered glucose from the renal proximal tubule together with sodium. Loss-of-function variants cause familial renal glucosuria, while pharmacologic inhibition lowers blood glucose and provides major cardiovascular and kidney benefits. This analysis covers 1,182 SLC5A2 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes familial renal glucosuria, type 2 diabetes mellitus, and heart failure. Example SLC5A2 variants include E2A, E2K, and E2Q.

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 SLC5A2 variants

Examples include E2A, E2K, E2Q, E3*, E3K, E3A, E3E, H4N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.