ANK2 (Ankyrin-2) variants and mutations

ANK2 (also known as Ankyrin-2) is a human protein-coding gene encoding an ankyrin-2 protein. It organizes membrane proteins and ion-handling complexes by linking them to the cytoskeleton, with especially important roles in cardiomyocytes and neurons. Pathogenic variants can disrupt cardiac electrical organization and cause ankyrin-B syndrome, including sinus-node dysfunction, arrhythmias, and variable QT abnormalities. This analysis covers 6,887 ANK2 variants and mutations. Of these, 51% have computational variant effect predictions. Disease context includes Romano-Ward syndrome, neurodevelopmental disorder, and Prolonged QT interval. Example ANK2 variants include M2V, M2K, and M2I.

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, ClinGen, MaveDB, LitVar.

Notable ANK2 variants

Examples include M2V, M2K, M2I, M2L, M2T, N3K, N3N, N3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.