GJA5 (Gap junction alpha-5 protein) variants and mutations

GJA5 (also known as Gap junction alpha-5 protein) is a human protein-coding gene encoding a gap junction alpha-5 protein. It forms connexin 40 gap junctions that support rapid electrical coupling in atrial myocardium and the cardiac conduction system. Pathogenic variants can predispose to atrial fibrillation and conduction disease, and altered expression can disrupt coordinated cardiac impulse propagation. This analysis covers 884 GJA5 variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes familial atrial fibrillation, Atrial stand still, and atrial fibrillation. Example GJA5 variants include G2C, G2R, and G2G.

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, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable GJA5 variants

Examples include G2C, G2R, G2G, D3N, D3Y, D3D, W4*, S5G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.