DRD3 (Dopamine receptor D3) variants and mutations

DRD3 (also known as Dopamine receptor D3) is a human protein-coding gene encoding a dopamine receptor D3 protein. It senses dopamine and signals mainly through inhibitory G proteins that reduce adenylyl cyclase activity. Enriched in limbic brain circuits, it helps regulate motivation, reward, emotion, and movement, making it a target of research into addiction and neuropsychiatric disorders. This analysis covers 827 DRD3 variants and mutations. Of these, 99% have computational variant effect predictions. Disease context includes schizophrenia, Parkinson disease, and major depressive disorder. Example DRD3 variants include A2T, S3P, and L4P.

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.

Diseases linked to DRD3

Notable DRD3 variants

Examples include A2T, S3P, L4P, S5C, S5N, Q6H, L7Q, S8R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.