SLC2A4 (P14672) variants and mutations

SLC2A4 (also known as P14672) is a human protein-coding gene encoding a solute carrier family 2, facilitated glucose transporter member 4 protein. It moves to the surface of skeletal muscle and adipose cells in response to insulin and mediates much of postprandial glucose uptake. Impaired trafficking or expression is a central feature of insulin resistance, although severe monogenic GLUT4 deficiency is rare. This analysis covers 618 SLC2A4 variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes hypertensive disorder, essential hypertension, and Increased blood pressure. Example SLC2A4 variants include P2L, P2Q, and P2R.

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 SLC2A4 variants

Examples include P2L, P2Q, P2R, P2T, P2S, P2P, S3L, S3*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.