ADCY5 (Adenylate cyclase type 5) variants and mutations

ADCY5 (also known as Adenylate cyclase type 5) is a human protein-coding gene encoding an adenylate cyclase type 5 protein. It generates cyclic AMP downstream of G-protein-coupled receptors and is particularly important in striatal and cardiac signaling. Gain-of-function and loss-of-function variants can both cause movement disorders, with ADCY5-related dyskinesia often featuring episodic chorea, dystonia, and nocturnal exacerbations. This analysis covers 1,842 ADCY5 variants and mutations. Of these, 87% have computational variant effect predictions. Disease context includes dyskinesia with orofacial involvement, autosomal dominant, Familial dyskinesia and facial myokymia, and dyskinesia with orofacial involvement, autosomal recessive. Example ADCY5 variants include G3C, G3S, and S4C.

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, MaveDB, LitVar.

Notable ADCY5 variants

Examples include G3C, G3S, S4C, S4Y, K5N, S6G, S6I, S6N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.