HTR2C
Chr X5-hydroxytryptamine receptor 2C
Also known as: 5-HT1C, 5-HT2C, 5-HTR2C, 5HTR2C, HTR1C
The HTR2C protein is a G-protein-coupled receptor that responds to serotonin signaling and activates phospholipase C-beta through G(q)/G(11) proteins, modulating neuronal activity, appetite regulation, and stress responses. Mutations in HTR2C cause X-linked intellectual disability with associated features that may include obesity, behavioral problems, and seizures. This gene follows X-linked inheritance and has low constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HTR2C · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools