HTR3E
5-Hydroxytryptamine Receptor 3E
Gene Information Card
| Symbol | HTR3E |
|---|---|
| Full Name | 5-Hydroxytryptamine Receptor 3E |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 285242 ncbi.nlm.nih.gov/gene/285242 |
| Ensembl ID | ENSG00000186038 |
| UniProt ID | A5X5Y0 |
| OMIM ID | 610123 |
| HGNC ID | 24005 |
| Aliases | 5-HT3E, MGC119718 |
Description
HTR3E encodes the E subunit of the 5-hydroxytryptamine receptor 3 (5-HT3), a pentameric ligand-gated ion channel that mediates fast excitatory neurotransmission in response to serotonin. The 5-HT3E subunit can form functional homomeric channels or co-assemble with other 5-HT3 subunits (e.g., A, B, C, D) to modulate receptor properties such as conductance and pharmacology. Expression is predominantly in the gastrointestinal tract and central nervous system, with roles in emesis, pain, and mood regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Irritable Bowel Syndrome (IBS) | Altered 5-HT3 receptor function due to HTR3E variants may affect gut motility and visceral hypersensitivity. | ClinVar; PMID: 20628055 |
| Chemotherapy-Induced Nausea and Vomiting (CINV) | 5-HT3 receptor antagonists target HTR3E-containing receptors to block emetic signals. | ClinVar; PMID: 23143523 |
| Schizophrenia | Genetic association studies link HTR3E polymorphisms to altered serotonergic signaling. | OMIM; PMID: 18382116 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | Medium |
| Colon | 10.3 | Medium |
| Stomach | 8.1 | Low |
| Brain (cortex) | 2.4 | Low |
| Testis | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 3.2 | Detectable |
| Caco-2 (colorectal adenocarcinoma) | 6.7 | Moderate |
| HEK293 (embryonic kidney) | 0.5 | Low |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.103G>A (p.Gly35Ser) | missense | 0.02% | May alter ligand binding; associated with IBS |
| c.457C>T (p.Arg153Cys) | missense | 0.01% | Potential disruption of channel gating |
Mutation functional classification
Loss of Function (LOF)
p.Met1? (start loss) and p.Arg153Cys are predicted to reduce or abolish receptor function.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not established for HTR3E.
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) | • synapse (GO:0045202) |
Pathways
• Serotonergic synapse (KEGG: hsa04726)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• 5-HT3 receptor signaling (Reactome: R-HSA-975298)
Protein Summary
The 5-HT3E protein is a 438-amino acid subunit of the 5-HT3 receptor, a cation-selective ion channel. It contains four transmembrane domains (M1-M4), a large extracellular N-terminal ligand-binding domain, and a cytoplasmic loop between M3 and M4. The E subunit confers unique pharmacological properties, including reduced sensitivity to certain antagonists compared to the A subunit. Homomeric 5-HT3E channels exhibit small conductance and rapid desensitization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HTR3E Knockout HEK293 Cell Line | EDJ-KQ13790 | Human | 285242 | Details Get a Quote |
| HTR3E Knockout HeLa Cell Line | EDJ-KQ59507 | Human | 285242 | Details Get a Quote |
| HTR3E Knockout A-549 Cell Line | EDJ-KQ67976 | Human | 285242 | Details Get a Quote |
| HTR3E Knockout HCT 116 Cell Line | EDJ-KQ76352 | Human | 285242 | Details Get a Quote |