DRD2 (D(2) dopamine receptor) variants and mutations

DRD2 (also known as D(2) dopamine receptor) is a human protein-coding gene encoding a d(2) dopamine receptor protein. Its activation by dopamine modulates cyclic-AMP signaling and neuronal excitability in circuits governing movement, motivation, reward, and endocrine control. It is a major pharmacologic target of antipsychotic drugs and dopamine agonists, and rare variants can produce movement or neuropsychiatric phenotypes. This analysis covers 762 DRD2 variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes major depressive disorder, schizophrenia, and bipolar disorder. Example DRD2 variants include D2E, D2H, and D2N.

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 DRD2 variants

Examples include D2E, D2H, D2N, P3L, P3S, L4R, N5T, N5Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.