SHANK2 (Q9UPX8) variants and mutations

SHANK2 (also known as Q9UPX8) is a human protein-coding gene encoding a SH3 and multiple ankyrin repeat domains protein 2 protein. It scaffolds receptors, signaling proteins, and actin-regulatory complexes within excitatory postsynaptic densities. Haploinsufficiency and disruptive variants can contribute to neurodevelopmental disorders, including intellectual disability and autism spectrum phenotypes. This analysis covers 2,783 SHANK2 variants and mutations. Of these, 69% have computational variant effect predictions. Disease context includes complex neurodevelopmental disorder, autism, and Rare disease with autism. Example SHANK2 variants include P2L, P2T, and R3C.

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 SHANK2 variants

Examples include P2L, P2T, R3C, R3H, R3L, S4G, T6A, S8G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.