DRD4 (D(4) dopamine receptor) variants and mutations

DRD4 (also known as D(4) dopamine receptor) is a human protein-coding gene encoding a d(4) dopamine receptor protein. It modulates dopamine signaling in cortical and limbic circuits and influences cyclic-AMP production and neuronal excitability. Common repeat polymorphisms have been studied extensively for behavioral traits, although their individual effects are modest and not deterministic. This analysis covers 1,211 DRD4 variants and mutations. Of these, 100% have computational variant effect predictions. Disease context includes schizophrenia, Parkinson disease, and bipolar disorder. Example DRD4 variants include p.Gly2 Arg4del, p.Gly2 Asn3insTrp, and G2R.

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 DRD4 variants

Examples include p.Gly2 Arg4del, p.Gly2 Asn3insTrp, G2R, G2W, G2E, G2V, G2G, N3H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.