HTR2C
5-Hydroxytryptamine Receptor 2C
Gene Information Card
| Symbol | HTR2C |
|---|---|
| Full Name | 5-Hydroxytryptamine Receptor 2C |
| Gene Type | protein-coding |
| Chromosomal Location | Xq23 |
| NCBI Gene ID | 3358 ncbi.nlm.nih.gov/gene/3358 |
| Ensembl ID | ENSG00000147246 |
| UniProt ID | P28335 |
| OMIM ID | 312861 |
| HGNC ID | 5295 |
| Aliases | 5-HT2C, 5-HT-2C, 5-HT2C receptor, HTR1C |
Description
The HTR2C gene encodes the 5-hydroxytryptamine (serotonin) receptor 2C, a G protein-coupled receptor (GPCR) that activates phospholipase C signaling via Gq/11. It is predominantly expressed in the central nervous system, particularly in the choroid plexus, cortex, and basal ganglia, and modulates neurotransmitter release, appetite, mood, and motor function. RNA editing of the pre-mRNA generates multiple isoforms with altered signaling properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity (susceptibility) | Altered receptor signaling affects appetite regulation; loss-of-function variants associated with hyperphagia | ClinVar, OMIM |
| Prader-Willi syndrome | Decreased HTR2C expression contributes to hyperphagia and obesity | OMIM, PubMed |
| Schizophrenia | Polymorphisms and RNA editing changes linked to altered serotonergic neurotransmission | NCBI Gene, ClinVar |
| Bipolar disorder | Variants in HTR2C associated with mood dysregulation | ClinVar, OMIM |
| Obsessive-compulsive disorder (OCD) | Dysregulation of serotonin signaling via 5-HT2C implicated in compulsive behaviors | PubMed, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (choroid plexus) | 45.2 | High |
| Brain (cortex) | 22.8 | Medium |
| Brain (basal ganglia) | 18.5 | Medium |
| Brain (hippocampus) | 12.1 | Medium |
| Spinal cord | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.4 | Neuronal model |
| U-87 MG (glioblastoma) | 8.2 | Glial expression |
| HEK293 (embryonic kidney) | 0.5 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.68C>T (p.Pro23Leu) | Missense | <0.1% | Reduced receptor activity; associated with obesity |
| c.551G>A (p.Arg184Gln) | Missense | <0.1% | Altered ligand binding; linked to psychiatric disorders |
| c.1-79C>T | Promoter variant | 0.5% | Decreased expression; obesity risk |
| RNA editing (A-to-I) at site A | Editing | Common | Changes isoleucine to valine; alters G-protein coupling |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Pro23Leu reduce receptor signaling and are associated with hyperphagia and obesity.
Gain of Function (GOF)
Not well documented; some RNA editing isoforms may enhance constitutive activity.
Dominant Negative (DN)
No dominant-negative mutations reported for HTR2C.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • serotonin binding |
| • phospholipase C-activating G protein-coupled receptor signaling pathway | • chemical synaptic transmission |
| • regulation of appetite | • positive regulation of ERK1 and ERK2 cascade |
Pathways
• Serotonin receptor signaling (GPCR)
• Gq/11-mediated signaling
• Calcium signaling pathway
• Neuroactive ligand-receptor interaction
Protein Summary
The 5-HT2C receptor is a 458-amino acid integral membrane protein with seven transmembrane domains. It couples primarily to Gq/11, leading to activation of phospholipase C, inositol trisphosphate production, and intracellular calcium release. The receptor undergoes extensive RNA editing at five sites, generating up to 24 protein isoforms with distinct signaling profiles. It is a target for antipsychotic drugs (e.g., clozapine) and anti-obesity agents (e.g., lorcaserin).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HTR2C Knockout HEK293 Cell Line | EDJ-KQ1592 | Human | 3358 | Details Get a Quote |
| HTR2C Knockout HeLa Cell Line | EDJ-KQ53593 | Human | 3358 | Details Get a Quote |
| HTR2C Knockout A-549 Cell Line | EDJ-KQ62060 | Human | 3358 | Details Get a Quote |
| HTR2C Knockout HCT 116 Cell Line | EDJ-KQ70543 | Human | 3358 | Details Get a Quote |
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