HTR3D
5-hydroxytryptamine receptor 3D subunit gene
Gene Information Card
| Symbol | HTR3D |
|---|---|
| Full Name | 5-hydroxytryptamine receptor 3D subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 200909 ncbi.nlm.nih.gov/gene/200909 |
| Ensembl ID | ENSG00000186090 |
| UniProt ID | Q70Z44 |
| OMIM ID | 610123 |
| HGNC ID | 24004 |
| Aliases | 5-HT3D, MGC119734 |
Description
HTR3D encodes the D subunit 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 D subunit co-assembles with other 5-HT3 subunits to form functional pentameric channels.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Irritable Bowel Syndrome | Altered 5-HT3 receptor function may affect gut motility and visceral sensitivity | ClinVar, NCBI |
| Chemotherapy-induced nausea and vomiting | 5-HT3 receptor antagonists target this pathway; HTR3D variants may influence drug response | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.2 | Low |
| Small intestine | 1.5 | Medium |
| Colon | 1.2 | Medium |
| Stomach | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 0.1 | Neuroblastoma cell line |
| HEK293 | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Potential loss of function |
| c.100C>T | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair subunit assembly or ion conductance.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular ligand-gated ion channel activity (GO:0005230) | • plasma membrane (GO:0005886) |
| • neurotransmitter receptor activity (GO:0030594) | • ion transport (GO:0006811) |
Pathways
• Serotonergic synapse (KEGG: hsa04726)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
Protein Summary
The 5-HT3D subunit is a transmembrane protein that contributes to the pore-forming region of the 5-HT3 receptor. It is primarily expressed in gastrointestinal tissues and brain regions involved in emesis and pain modulation. The protein contains an extracellular N-terminal domain, four transmembrane helices, and a large intracellular loop.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HTR3D Knockout HEK293 Cell Line | EDJ-KQ4629 | Human | 200909 | Details Get a Quote |
| HTR3D Knockout HeLa Cell Line | EDJ-KQ59014 | Human | 200909 | Details Get a Quote |
| HTR3D Knockout A-549 Cell Line | EDJ-KQ67494 | Human | 200909 | Details Get a Quote |
| HTR3D Knockout HCT 116 Cell Line | EDJ-KQ75892 | Human | 200909 | Details Get a Quote |
