HTR2A (5-hydroxytryptamine receptor 2A) variants and mutations

HTR2A (also known as 5-hydroxytryptamine receptor 2A) is a human protein-coding gene encoding a 5-hydroxytryptamine receptor 2A protein. Its activation by serotonin engages Gq signaling in cortical, vascular, and other tissues and influences perception, mood, cognition, and smooth-muscle responses. It is a major target of many antipsychotic drugs and psychedelic compounds, while common genetic effects on behavior are generally modest. This analysis covers 807 HTR2A variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes major depressive disorder, schizophrenia, and autism. Example HTR2A variants include D2N, I3F, and L4R.

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 HTR2A variants

Examples include D2N, I3F, L4R, C5Y, E6G, E6K, N8K, S10C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.