NRXN2 (Neurexin-2) variants and mutations

NRXN2 (also known as Neurexin-2) is a human protein-coding gene encoding a neurexin-2 protein. It contributes to presynaptic cell adhesion and synapse organization by binding multiple postsynaptic partners. Rare disruptive variants have been associated with neurodevelopmental and psychiatric phenotypes, although penetrance and gene-disease evidence are less established than for NRXN1. This analysis covers 2,372 NRXN2 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes gout, osteoarthritis, knee, and mathematical ability. Example NRXN2 variants include A2E, A2T, and S3A.

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, MaveDB, LitVar.

Notable NRXN2 variants

Examples include A2E, A2T, S3A, G4R, R6L, R6P, W7C, W7G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.