HTR3C
5-hydroxytryptamine receptor 3C
Gene Information Card
| Symbol | HTR3C |
|---|---|
| Full Name | 5-hydroxytryptamine receptor 3C |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 170572 ncbi.nlm.nih.gov/gene/170572 |
| Ensembl ID | ENSG00000178084 |
| UniProt ID | Q8WXA8 |
| OMIM ID | 610123 |
| HGNC ID | 24004 |
| Aliases | 5-HT3C, 5-HT3C receptor |
Description
HTR3C encodes subunit C of the 5-hydroxytryptamine receptor 3 (5-HT3), a ligand-gated ion channel that mediates fast excitatory neurotransmission in the central and peripheral nervous systems. The receptor is a pentameric complex; the C subunit can form functional homomeric or heteromeric channels with other 5-HT3 subunits. HTR3C is involved in serotonergic signaling and has been implicated in psychiatric and gastrointestinal disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Irritable Bowel Syndrome (IBS) | Altered 5-HT3 receptor function affecting gut motility and visceral sensitivity | ClinVar, NCBI |
| Schizophrenia | Genetic association studies link HTR3C variants to altered serotonergic signaling | OMIM, NCBI |
| Bipolar Disorder | Polymorphisms in HTR3C may contribute to mood regulation abnormalities | NCBI, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.8 | Low |
| Small Intestine | 1.2 | Low |
| Colon | 0.9 | Low |
| Stomach | 0.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 0.5 | Neuroblastoma cell line |
| HEK293 | 0.3 | Embryonic kidney cells |
| Caco-2 | 0.7 | Colorectal adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.137G>A (p.Arg46His) | Missense | <0.01% | Altered receptor function; associated with IBS |
| c.421C>T (p.Pro141Ser) | Missense | <0.01% | Potential impact on channel gating |
Mutation functional classification
Loss of Function (LOF)
p.Arg46His reduces channel conductance
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • serotonin receptor activity (GO:0004993) | • extracellular ligand-gated ion channel activity (GO:0005230) |
| • ion transport (GO:0006811) | • chemical synaptic transmission (GO:0007268) |
| • neurotransmitter receptor activity (GO:0030594) |
Pathways
• Serotonergic synapse (KEGG: hsa04726)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
Protein Summary
The 5-HT3C receptor subunit is a 447-amino acid transmembrane protein that forms part of the 5-HT3 ion channel. It contains an extracellular N-terminal domain, four transmembrane helices (M1-M4), and a large intracellular loop between M3 and M4. The subunit contributes to the cation-selective pore that mediates rapid depolarization upon serotonin binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HTR3C Knockout HEK293 Cell Line | EDJ-KQ13789 | Human | 170572 | Details Get a Quote |
| HTR3C Knockout HeLa Cell Line | EDJ-KQ58937 | Human | 170572 | Details Get a Quote |
| HTR3C Knockout A-549 Cell Line | EDJ-KQ67424 | Human | 170572 | Details Get a Quote |
| HTR3C Knockout HCT 116 Cell Line | EDJ-KQ75819 | Human | 170572 | Details Get a Quote |
