HTR2B
5-Hydroxytryptamine Receptor 2B
Gene Information Card
| Symbol | HTR2B |
|---|---|
| Full Name | 5-Hydroxytryptamine Receptor 2B |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 3357 ncbi.nlm.nih.gov/gene/3357 |
| Ensembl ID | ENSG00000135914 |
| UniProt ID | P41595 |
| OMIM ID | 601122 |
| HGNC ID | 5295 |
| Aliases | 5-HT2B, 5-HT-2B, STRP2 |
Description
The HTR2B gene encodes the 5-hydroxytryptamine (serotonin) receptor 2B, a G protein-coupled receptor that mediates serotonin signaling. It is involved in various physiological processes including cardiovascular function, central nervous system activity, and cell proliferation. Mutations in HTR2B are associated with psychiatric disorders and valvular heart disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Valvular Heart Disease | Gain-of-function mutations lead to constitutive activation, promoting valvular interstitial cell proliferation | PMID: 18425120 |
| Schizophrenia | Genetic variants may alter serotonin signaling, contributing to psychosis | PMID: 21428778 |
| Obsessive-Compulsive Disorder | Polymorphisms in HTR2B are linked to OCD susceptibility | PMID: 22446502 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 3.2 | Low |
| Brain | 5.8 | Medium |
| Lung | 1.1 | Not detected |
| Liver | 0.5 | Not detected |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| SH-SY5Y | 6.1 | High expression |
| HepG2 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.137G>A (p.Arg46His) | Missense | 0.01% | Gain-of-function, associated with valvular heart disease |
| c.538C>T (p.Arg180*) | Nonsense | <0.01% | Loss-of-function, linked to psychiatric disorders |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg180*) result in truncated non-functional receptor, reducing serotonin signaling.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg46His) cause constitutive receptor activation, leading to pathological cell proliferation.
Dominant Negative (DN)
No dominant negative mutations reported for HTR2B.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • serotonin binding |
| • serotonin receptor activity | • cell surface receptor signaling pathway |
| • positive regulation of ERK1 and ERK2 cascade |
Pathways
• Serotonin receptor signaling
• GPCR downstream signaling
• Calcium signaling pathway
Protein Summary
The 5-HT2B receptor is a 481-amino acid protein with seven transmembrane domains. It couples primarily to Gq/11 proteins, activating phospholipase C and increasing intracellular calcium. It plays a role in cardiac development, smooth muscle contraction, and neurotransmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HTR2B Knockout HEK293 Cell Line | EDJ-KQ942 | Human | 3357 | Details Get a Quote |
| HTR2B Knockout A-549 Cell Line | EDJ-KQ21276 | Human | 3357 | Details Get a Quote |
| HTR2B Knockout HeLa Cell Line | EDJ-KQ53592 | Human | 3357 | Details Get a Quote |
| HTR2B Knockout HCT 116 Cell Line | EDJ-KQ70542 | Human | 3357 | Details Get a Quote |
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