TBXA2R Gene (Thromboxane A2 Receptor)
A key GPCR in platelet aggregation, vasoconstriction, and cardiovascular disease
Gene Information Card
| Symbol | TBXA2R |
|---|---|
| Full Name | Thromboxane A2 Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 6915 ncbi.nlm.nih.gov/gene/6915 |
| Ensembl ID | ENSG00000106638 |
| UniProt ID | P21731 |
| OMIM ID | 188070 |
| HGNC ID | 11608 |
| Aliases | TXA2-R, TP, TPR |
Description
The TBXA2R gene encodes the thromboxane A2 receptor, a G protein-coupled receptor (GPCR) that mediates the actions of thromboxane A2 (TXA2). This receptor is primarily expressed on platelets, vascular smooth muscle cells, and immune cells. Activation leads to platelet aggregation, vasoconstriction, and bronchoconstriction. TBXA2R is implicated in cardiovascular diseases, asthma, and thrombosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | Receptor activation causes bronchoconstriction; polymorphisms may increase airway hyperresponsiveness | ClinVar, OMIM |
| Thrombosis | Enhanced platelet aggregation via Gq/PLC signaling; gain-of-function variants increase risk | ClinVar, NCBI |
| Hypertension | Vasoconstriction mediated by TP receptor in vascular smooth muscle | OMIM, UniProt |
| Bleeding disorders | Loss-of-function mutations impair platelet aggregation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Blood (platelets) | 8.2 | Low |
| Spleen | 6.1 | Low |
| Vascular smooth muscle | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.2 | Low expression |
| A549 (lung) | 3.1 | Moderate |
| HUVEC | 1.5 | Low |
| Megakaryocytes | 7.8 | High |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.924C>T (p.Arg308Cys) | Missense | <0.1% | Reduced receptor activity; associated with bleeding tendency |
| c.795G>A (p.Trp265*) | Nonsense | <0.01% | Loss of function; platelet aggregation defect |
| c.112G>A (p.Gly38Arg) | Missense | 0.2% | Gain of function; increased risk of thrombosis |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Arg308Cys and p.Trp265* impair receptor signaling, leading to reduced platelet aggregation and bleeding disorders.
Gain of Function (GOF)
Variants like p.Gly38Arg enhance receptor activity, increasing platelet aggregation and thrombotic risk.
Dominant Negative (DN)
No dominant-negative mutations have been reported for TBXA2R.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • thromboxane A2 receptor activity |
| • phospholipase C-activating G protein-coupled receptor signaling pathway | • platelet activation |
| • vasoconstriction | • inflammatory response |
Pathways
• Thromboxane A2 receptor signaling (Reactome: R-HSA-416476)
• Platelet activation
• signaling and aggregation (Reactome: R-HSA-76002)
• GPCR downstream signaling (Reactome: R-HSA-388396)
Protein Summary
The thromboxane A2 receptor (TP) is a 343-amino acid GPCR with seven transmembrane domains. It couples primarily to Gq, activating phospholipase C and increasing intracellular calcium. TP exists in two splice variants: TPα and TPβ, which differ in the C-terminal tail and desensitization properties. The receptor is a target for antiplatelet drugs such as terutroban.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBXA2R Knockout HEK293 Cell Line | EDJ-KQ1604 | Human | 6915 | Details Get a Quote |
| TBXA2R Knockout HCT 116 Cell Line | EDJ-KQ21288 | Human | 6915 | Details Get a Quote |
| TBXA2R Knockout HeLa Cell Line | EDJ-KQ21289 | Human | 6915 | Details Get a Quote |
| TBXA2R Knockout A-549 Cell Line | EDJ-KQ63101 | Human | 6915 | Details Get a Quote |
| TBXA2R Knockdown 4T1 stable cell line | EDJ-KD007 | Mouse | 6915 | Details Get a Quote |
| TBXA2R Knockout 4T1 Cell Line | EDC07736 | Mouse | 21390 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
