TRPV2

Chr 17

transient receptor potential cation channel subfamily V member 2

Also known as: VRL, VRL-1, VRL1

NCBI Gene: 51393ENSG00000187688UniProt: Q9Y5S1

This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]

139
ClinVar variants
26
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— TRPV2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
26 Pathogenic / Likely Pathogenic· 108 VUS of 139 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.86LOEUF
pLI 0.000
Z-score 2.26
OE 0.62 (0.46–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.71Z-score
OE missense 0.78 (0.71–0.85)
359 obs / 462.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.62 (0.46–0.86)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.78 (0.71–0.85)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.98
0≤1.21.6
LoF obs/exp: 26 / 41.8Missense obs/exp: 359 / 462.5Syn Z: 0.17

ClinVar Variant Classifications

139 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic26
VUS108
Likely Benign4
Benign1
26
Pathogenic
108
VUS
4
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
26
0
26
Likely Pathogenic
0
0
0
0
0
VUS
0
90
18
0
108
Likely Benign
0
3
1
0
4
Benign
0
0
1
0
1
Total093460139

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TRPV2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Insight into Pain Modulation: Nociceptors Sensitization and Therapeutic Targets.
Khan A et al.·Curr Drug Targets
2019Review
Fibromyalgia: Genetics and epigenetics insights may provide the basis for the development of diagnostic biomarkers.
D'Agnelli S et al.·Mol Pain
2019Review
TRPV2: A Cancer Biomarker and Potential Therapeutic Target.
Siveen KS et al.·Dis Markers
2020Review
The TRPV2 cation channels: from urothelial cancer invasiveness to glioblastoma multiforme interactome signature.
Santoni G et al.·Lab Invest
2020Review
Structural insights into TRPV2 modulation by probenecid.
Rocereta JA et al.·Nat Struct Mol Biol
2025
Ion channel TRPV2 is critical in enhancing B cell activation and function.
Li C et al.·J Exp Med
2024
Cannabinoids in the landscape of cancer.
Mangal N et al.·J Cancer Res Clin Oncol
2021Review
Heat Shock Strengthens the Protective Potential of MSCs in Liver Injury by Promoting EV Release Through Upregulated Autophagosome Formation.
Wang T et al.·J Extracell Vesicles
2025
Peripheral Blood Mononuclear Cell Biomarkers for Major Depressive Disorder: A Transcriptomic Approach.
Sun L et al.·Depress Anxiety
2024
TRPV2 channel-based therapies in the cardiovascular field. Molecular underpinnings of clinically relevant therapies.
O'Connor B et al.·Prog Biophys Mol Biol
2021Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools