TRPV2 Gene - Transient Receptor Potential Vanilloid 2
A calcium-permeable cation channel involved in thermosensation, mechanosensation, and cancer biology
Gene Information Card
| Symbol | TRPV2 |
|---|---|
| Full Name | Transient Receptor Potential Cation Channel Subfamily V Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 51393 ncbi.nlm.nih.gov/gene/51393 |
| Ensembl ID | ENSG00000187688 |
| UniProt ID | Q9Y5S1 |
| OMIM ID | 606676 |
| HGNC ID | 18082 |
| Aliases | TRPV2, OTRPC2, VRL-1, MGC1250 |
Description
TRPV2 (Transient Receptor Potential Cation Channel Subfamily V Member 2) encodes a calcium-permeable, non-selective cation channel that belongs to the TRPV family. The channel is activated by high temperatures (>52°C), mechanical stretch, and various chemical ligands. It plays roles in thermosensation, mechanosensation, immune function, and cardiac and neuronal development. TRPV2 is also implicated in cancer progression, where its expression correlates with poor prognosis in several tumor types. The protein forms tetramers and is widely expressed in both neuronal and non-neuronal tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | TRPV2 overexpression promotes cell proliferation, migration, and invasion via calcium influx and downstream signaling pathways (e.g., PI3K/AKT, MAPK). | COSMIC: high expression in multiple cancer types; ClinVar: somatic mutations reported in some tumors. |
| Neuropathic pain | TRPV2 activation in sensory neurons contributes to nociception and pain signaling. | Preclinical studies; not yet clinically validated. |
| Cardiomyopathy | TRPV2 mutations may affect calcium handling in cardiac muscle, leading to contractile dysfunction. | Rare variants reported in ClinVar; functional studies limited. |
| Muscular dystrophy | TRPV2 dysregulation in muscle cells may contribute to calcium overload and degeneration. | Expression changes observed in dystrophic muscle; not a primary cause. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Lung | 3.1 | Low |
| Heart | 4.8 | Medium |
| Skeletal Muscle | 6.0 | Medium |
| Pancreas | 2.5 | Low |
| Spleen | 1.8 | Low |
| Testis | 3.9 | Low |
| Kidney | 2.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | High expression; used for functional studies. |
| HeLa | 8.3 | Moderate expression; cancer cell line. |
| A549 | 6.7 | Lung cancer cell line; moderate expression. |
| MCF7 | 4.2 | Breast cancer cell line; low expression. |
| SH-SY5Y | 7.8 | Neuroblastoma cell line; moderate expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg457His | Missense | 0.01% (gnomAD) | Potential effect on channel gating; not clinically significant. |
| p.Val583Ile | Missense | 0.02% | Benign; no functional impact. |
| p.Glu727Lys | Missense | 0.005% | Uncertain significance; may alter calcium permeability. |
| p.Leu826Phe | Missense | 0.001% | Reported in cancer; potential gain-of-function. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in TRPV2 are rare and not well characterized. They may impair channel activity, leading to reduced calcium influx and altered cellular responses.
Gain of Function (GOF)
Gain-of-function mutations, such as p.Leu826Phe, may increase channel activity, enhancing calcium entry and promoting cancer cell proliferation and migration.
Dominant Negative (DN)
No dominant-negative mutations have been reported for TRPV2 to date.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • calcium channel activity |
| • cation channel activity | • heat sensor activity |
| • mechanosensitive ion channel activity | • plasma membrane |
| • integral component of plasma membrane | • response to heat |
| • response to mechanical stimulus | • calcium ion transmembrane transport |
| • cellular response to temperature stimulus |
Pathways
• Calcium signaling pathway
• Thermogenesis
• Mechanotransduction
• PI3K-Akt signaling pathway (in cancer)
• MAPK signaling pathway
Protein Summary
TRPV2 is a 787-amino acid protein with six transmembrane domains, a pore-forming loop between the fifth and sixth segments, and intracellular N- and C-termini. It assembles as a tetramer to form a non-selective cation channel permeable to Ca2+, Na+, and Mg2+. The channel is activated by noxious heat (>52°C), mechanical stretch, and ligands such as 2-APB and probenecid. TRPV2 is involved in sensory physiology, immune responses, and cardiac function. In cancer, TRPV2 expression is upregulated and correlates with tumor aggressiveness, making it a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRPV2 Knockout HEK293 Cell Line | EDJ-KQ2067 | Human | 51393 | Details Get a Quote |
| TRPV2 Knockout HCT 116 Cell Line | EDJ-KQ22135 | Human | 51393 | Details Get a Quote |
| TRPV2 Knockout HeLa Cell Line | EDJ-KQ56305 | Human | 51393 | Details Get a Quote |
| TRPV2 Knockout A-549 Cell Line | EDJ-KQ64794 | Human | 51393 | Details Get a Quote |
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