HTR5A
5-Hydroxytryptamine Receptor 5A
Gene Information Card
| Symbol | HTR5A |
|---|---|
| Full Name | 5-Hydroxytryptamine Receptor 5A |
| Gene Type | protein-coding |
| Chromosomal Location | 7q36.3 |
| NCBI Gene ID | 3361 ncbi.nlm.nih.gov/gene/3361 |
| Ensembl ID | ENSG00000157219 |
| UniProt ID | P47898 |
| OMIM ID | 601305 |
| HGNC ID | 5299 |
| Aliases | 5-HT5A, 5-HT-5A, 5-HT5A receptor |
Description
HTR5A encodes the 5-hydroxytryptamine (serotonin) receptor 5A, a G protein-coupled receptor (GPCR) that binds serotonin (5-HT). It is primarily expressed in the central nervous system, where it modulates neurotransmission, circadian rhythm, and cognitive functions. The receptor couples to Gi/Go proteins, inhibiting adenylyl cyclase. HTR5A has been implicated in psychiatric disorders, including schizophrenia and depression, and is a target for antipsychotic and antidepressant drug development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered 5-HT5A receptor signaling may disrupt cortical and limbic neurotransmission, contributing to positive and negative symptoms. | ClinVar, NCBI Gene |
| Major Depressive Disorder | Dysregulation of serotonergic signaling via HTR5A may affect mood regulation and response to antidepressants. | NCBI Gene, OMIM |
| Bipolar Disorder | Variants in HTR5A may influence susceptibility through modulation of serotonin pathways. | ClinVar |
| Circadian Rhythm Disorders | HTR5A expression in suprachiasmatic nucleus links to sleep-wake cycle regulation. | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain - Cortex | 4.2 | Medium |
| Brain - Cerebellum | 3.8 | Medium |
| Brain - Hippocampus | 5.1 | Medium |
| Brain - Hypothalamus | 3.5 | Medium |
| Spinal Cord | 2.1 | Low |
| Testis | 1.0 | Low |
| Heart | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 3.5 | Neuroblastoma cell line; moderate expression |
| U-87 MG | 2.8 | Glioblastoma cell line; low expression |
| HEK293 | 0.2 | Not detected |
| HepG2 | 0.1 | Not detected |
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; rare variant in population databases |
| c.457G>A (p.Val153Ile) | Missense | <0.01% | Unknown; no functional studies reported |
| c.832C>T (p.Arg278Cys) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC for HTR5A.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants described.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • serotonin binding |
| • serotonin receptor activity | • G protein-coupled serotonin receptor activity |
| • plasma membrane | • integral component of plasma membrane |
| • chemical synaptic transmission | • serotonin receptor signaling pathway |
| • adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | • nervous system development |
Pathways
• Serotonergic synapse (KEGG: hsa04726)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• GPCR downstream signaling (Reactome: R-HSA-388396)
• Signaling by GPCR (Reactome: R-HSA-372790)
Protein Summary
The 5-HT5A receptor is a 357-amino acid protein with seven transmembrane domains typical of GPCRs. It is predominantly expressed in the brain, especially in cortex, hippocampus, and cerebellum. Upon serotonin binding, it activates Gi/Go proteins, leading to inhibition of adenylyl cyclase and reduced cAMP levels. The receptor is involved in modulating neuronal excitability, synaptic plasticity, and circadian rhythms. Its role in psychiatric conditions makes it a target for drug discovery.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HTR5A Knockout HEK293 Cell Line | EDJ-KQ923 | Human | 3361 | Details Get a Quote |
| HTR5A Knockout HeLa Cell Line | EDJ-KQ53596 | Human | 3361 | Details Get a Quote |
| HTR5A Knockout A-549 Cell Line | EDJ-KQ62062 | Human | 3361 | Details Get a Quote |
| HTR5A Knockout HCT 116 Cell Line | EDJ-KQ70546 | Human | 3361 | Details Get a Quote |
