HTR2C (5-hydroxytryptamine receptor 2C) variants and mutations

HTR2C (also known as 5-hydroxytryptamine receptor 2C) is a human protein-coding gene encoding a 5-hydroxytryptamine receptor 2C protein. Its serotonin-dependent signaling in hypothalamic and limbic circuits suppresses appetite and modulates mood, reward, and neuroendocrine function. Altered signaling can affect body weight and psychiatric drug responses, and the receptor is a pharmacologic target of several neuropsychiatric agents. This analysis covers 745 HTR2C variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes autism, schizophrenia, and bipolar disorder. Example HTR2C variants include M1?, V2L, and V2M.

Variant analysis overview

Gene: HTR2C
Protein: 5-hydroxytryptamine receptor 2C
UniProt accession: P28335
Organism: Homo sapiens
Variants analyzed: 745
Variant scope: all variants
Completed: 2026-08-19

Variant and mutation evidence

Variant composition: 560 unspecified-consequence records; 108 missense variants; 60 synonymous variants; 1 in-frame deletions; 6 stop-gained variants; 7 frameshift variants; 3 splice-region variants
Prediction scores: 661 variants have prediction scores (89% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: autism, schizophrenia, bipolar disorder, major depressive disorder, psychotic disorder, bipolar I disorder, aggressive behavior, Agitation, depressive disorder, Dravet syndrome, insomnia, obesity disorder.

Protein structure and variant hotspots

Protein features: 7 transmembrane segments; 2 binding sites; 2 post-translational modification sites.
Structural context: 245 variants have structural context.
PTM context: 2 variants overlap post-translational modification sites.

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 HTR2C variants

Examples include M1?, V2L, V2M, V2A, V2V, N3K, N3S, N3H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

HTR2C analysis run — HTR2C (745 variants) — completed 2026-08-19