HTR3B
5-Hydroxytryptamine Receptor 3B
Gene Information Card
| Symbol | HTR3B |
|---|---|
| Full Name | 5-Hydroxytryptamine Receptor 3B |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.2 |
| NCBI Gene ID | 9177 ncbi.nlm.nih.gov/gene/9177 |
| Ensembl ID | ENSG00000186038 |
| UniProt ID | O95264 |
| OMIM ID | 604654 |
| HGNC ID | 5299 |
| Aliases | 5-HT3B, 5-HT3-B, 5-HT3B subunit |
Description
HTR3B encodes the B subunit of the 5-hydroxytryptamine receptor 3 (5-HT3), a pentameric ligand-gated ion channel that mediates fast excitatory neurotransmission in the central and peripheral nervous systems. The B subunit co-assembles with the A subunit to form functional heteromeric channels with distinct pharmacological and biophysical properties. HTR3B is expressed in brain regions such as the hippocampus and cortex, as well as in gastrointestinal neurons. Variants in HTR3B have been associated with psychiatric disorders, irritable bowel syndrome, and chemotherapy-induced nausea.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Irritable Bowel Syndrome (IBS) | Altered 5-HT3 receptor function affects gut motility and visceral sensitivity | ClinVar, PMID: 16916642 |
| Schizophrenia | HTR3B variants may modulate serotonergic signaling and cognitive function | ClinVar, PMID: 20080012 |
| Bipolar Disorder | Polymorphisms in HTR3B linked to mood regulation | ClinVar, PMID: 19118851 |
| Chemotherapy-Induced Nausea and Vomiting | HTR3B variants influence response to 5-HT3 antagonists | ClinVar, PMID: 18559845 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cortex) | 5.2 | Medium |
| Hippocampus | 4.8 | Medium |
| Small intestine | 3.1 | Low |
| Colon | 2.9 | Low |
| Stomach | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 6.1 | Neuronal model |
| Caco-2 (colorectal) | 3.4 | Intestinal epithelial |
| HEK293 (embryonic kidney) | 0.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.178G>A (p.Val60Ile) | Missense | <0.01% | Altered channel kinetics; associated with IBS |
| c.386A>G (p.Tyr129Cys) | Missense | <0.01% | Reduced receptor function; linked to schizophrenia |
| c.553C>T (p.Arg185Trp) | Missense | <0.01% | Impaired subunit assembly; reported in bipolar disorder |
Mutation functional classification
Loss of Function (LOF)
p.Tyr129Cys reduces channel conductance and surface expression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
p.Arg185Trp disrupts pentamer formation and co-assembly with HTR3A.
View complete mutation data:
Gene Ontology (GO)
| • extracellular ligand-gated ion channel activity (GO:0005230) | • serotonin receptor activity (GO:0004993) |
| • neurotransmitter receptor activity (GO:0030594) | • ion transport (GO:0006811) |
| • chemical synaptic transmission (GO:0007268) | • plasma membrane (GO:0005886) |
Pathways
• Serotonergic synapse (KEGG: hsa04726)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• 5-HT3 receptor signaling (Reactome: R-HSA-375280)
Protein Summary
The 5-HT3B protein (UniProt O95264) is a 441-amino acid subunit of the 5-HT3 receptor. It contains four transmembrane domains (M1-M4) and a large extracellular N-terminal domain that contributes to ligand binding. Unlike the homomeric 5-HT3A receptor, the heteromeric 5-HT3AB channel exhibits larger single-channel conductance, faster desensitization, and altered pharmacology. The B subunit is essential for modulating serotonergic signaling in neurons and enteric cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HTR3B Knockout HEK293 Cell Line | EDJ-KQ3318 | Human | 9177 | Details Get a Quote |
| HTR3B Knockout HeLa Cell Line | EDJ-KQ55099 | Human | 9177 | Details Get a Quote |
| HTR3B Knockout A-549 Cell Line | EDJ-KQ63578 | Human | 9177 | Details Get a Quote |
| HTR3B Knockout HCT 116 Cell Line | EDJ-KQ72044 | Human | 9177 | Details Get a Quote |