HTR7: 5-Hydroxytryptamine Receptor 7
Serotonin Receptor 7 Gene – Function, Expression, and Clinical Relevance
Gene Information Card
| Symbol | HTR7 |
|---|---|
| Full Name | 5-hydroxytryptamine receptor 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 3363 ncbi.nlm.nih.gov/gene/3363 |
| Ensembl ID | ENSG00000148680 |
| UniProt ID | P34969 |
| OMIM ID | 182137 |
| HGNC ID | 5293 |
| Aliases | 5-HT7, 5-HT7R, 5-HTX |
Description
The HTR7 gene encodes the 5-hydroxytryptamine receptor 7 (5-HT7), a G protein-coupled receptor (GPCR) for serotonin. It is involved in various physiological processes including circadian rhythm, mood regulation, thermoregulation, and smooth muscle relaxation. The receptor is expressed in the central nervous system, gastrointestinal tract, and vascular tissues. HTR7 has been implicated in neuropsychiatric disorders such as depression, anxiety, and schizophrenia, as well as in migraine and irritable bowel syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Major Depressive Disorder | Altered 5-HT7 signaling in limbic system; receptor modulation affects mood and stress response | Genetic association studies (OMIM 182137; NCBI Gene 3363) |
| Schizophrenia | Dysregulation of 5-HT7 in prefrontal cortex; receptor influences cognitive and negative symptoms | ClinVar; literature review |
| Migraine | 5-HT7 receptor mediates vasodilation of cerebral arteries; implicated in migraine pathophysiology | UniProt P34969; OMIM 182137 |
| Irritable Bowel Syndrome | 5-HT7 expressed in enteric neurons and smooth muscle; altered signaling contributes to visceral hypersensitivity | NCBI Gene 3363; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 8.2 | Medium |
| Brain (hippocampus) | 7.5 | Medium |
| Brain (hypothalamus) | 6.8 | Medium |
| Small intestine | 5.1 | Low |
| Colon | 4.3 | Low |
| Spleen | 3.9 | Low |
| Heart | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 9.4 | High expression; used in neuronal studies |
| U-87 MG (glioblastoma) | 6.2 | Moderate expression |
| HEK293 (embryonic kidney) | 1.8 | Low endogenous expression; common for transfection |
| Caco-2 (colorectal adenocarcinoma) | 4.7 | Low expression; intestinal model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional impact; rare variant |
| c.688G>A (p.Val230Ile) | Missense | <0.01% | Potential altered ligand binding; not clinically validated |
| c.1123A>G (p.Ile375Val) | Missense | <0.01% | Located in transmembrane domain; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for HTR7.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ClinVar or COSMIC for HTR7.
Dominant Negative (DN)
No dominant-negative mutations reported for HTR7.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity (GO:0004930) | • serotonin binding (GO:0051378) |
| • serotonin receptor activity (GO:0004993) | • adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0007189) |
| • positive regulation of cAMP-mediated signaling (GO:0030819) | • nervous system development (GO:0007399) |
| • circadian rhythm (GO:0007623) | • smooth muscle contraction (GO:0006939) |
Pathways
• Serotonergic synapse (KEGG: hsa04726)
• GPCR downstream signaling (Reactome: R-HSA-388396)
• cAMP signaling pathway (KEGG: hsa04024)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
Protein Summary
The 5-HT7 receptor is a 445-amino acid protein with seven transmembrane domains typical of GPCRs. It couples primarily to Gs proteins, leading to activation of adenylate cyclase and increased intracellular cAMP. The receptor is involved in neuronal excitability, synaptic plasticity, and circadian rhythm regulation. Alternative splicing generates multiple isoforms (e.g., 5-HT7(a), 5-HT7(b), 5-HT7(d)) with distinct C-terminal tails that may influence receptor trafficking and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HTR7 Knockout HEK293 Cell Line | EDJ-KQ1210 | Human | 3363 | Details Get a Quote |
| HTR7 Knockout HCT 116 Cell Line | EDJ-KQ20532 | Human | 3363 | Details Get a Quote |
| HTR7 Knockout HeLa Cell Line | EDJ-KQ53598 | Human | 3363 | Details Get a Quote |
| HTR7 Knockout A-549 Cell Line | EDJ-KQ62064 | Human | 3363 | Details Get a Quote |
