CDH2 (Cadherin-2) variants and mutations

CDH2 (also known as Cadherin-2) is a human protein-coding gene encoding a cadherin-2 protein. It mediates calcium-dependent cell-cell adhesion in neural, cardiac, and mesenchymal tissues and helps organize adherens junctions during development. Heterozygous pathogenic variants can cause a syndromic neurodevelopmental disorder with variable cardiac and craniofacial abnormalities. This analysis covers 1,342 CDH2 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes agenesis of corpus callosum, cardiac, ocular, and genital syndrome, arrhythmogenic right ventricular dysplasia, familial, 14, and Agenesis of corpus callosum. Example CDH2 variants include R3G, R3Q, and R3W.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable CDH2 variants

Examples include R3G, R3Q, R3W, I4R, A5V, A7G, A7T, A7V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.