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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TRPV4
transient receptor potential cation channel subfamily V member 4
Chromosome 12 Β· 12q24.11
NCBI Gene: 59341Ensembl: ENSG00000111199.13HGNC: HGNC:18083UniProt: Q9HBA0
312PubMed Papers
30Diseases
3Drugs
69Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cellular hypotonic responsecalcium ion transmembrane transportcartilage development involved in endochondral bone morphogenesiscalcium ion transportmetatropic dysplasiaspondylometaphyseal dysplasia, Kozlowski typeCharcot-Marie-Tooth disease axonal type 2CAutosomal dominant Charcot-Marie-Tooth disease type 2C
✦AI Summary

TRPV4 is a non-selective cation channel with ~5-10 fold greater calcium permeability than sodium 1 that functions as a mechanosensitive polymodal ion channel expressed broadly across tissues 2. Functionally, TRPV4 responds to diverse physical stimuli including cell swelling, mechanical stretch, and heat, as well as chemical stimuli including endocannabinoids and arachidonic acid metabolites 1. TRPV4 operates as a homotetrameric complex, forming calcium-permeable channels that regulate intracellular calcium homeostasis 13. Mechanistically, TRPV4 mediates crystal-induced inflammation by activating NLRP3 inflammasome in synovial macrophages and human PBMCs, driving interleukin-1Ξ² production in response to monosodium urate crystals 4. During sepsis, TRPV4 regulates macrophage glucose uptake via GLUT1 and phagolysosome maturation, limiting lung injury through enhanced bacterial clearance 5. In endothelial cells, TRPV4 mediates localized calcium entry at caveolin-1-rich microdomains, activating nitric oxide synthase to suppress inflammatory gene expression 6. Genetically, TRPV4 mutations cause multiple channelopathies including Charcot-Marie-Tooth disease type 2C, spinal muscular atrophy, and brachyolmia 7. Therapeutically, TRPV4 antagonism shows potential for treating edema, pain, gastrointestinal disorders, and lung diseases 2, with first-in-human trials initiated in heart failure patients.

Sources cited
1
TRPV4 is a non-selective cation channel with ~5-10 fold greater calcium permeability than sodium, activated by physical and chemical stimuli including cell swelling, heat, endocannabinoids, and arachidonic acid
PMID: 17217058
2
TRPV4 is a polymodally gated ion channel broadly expressed with therapeutic potential in edema, pain, gastrointestinal disorders, and lung diseases; first-in-human trials initiated
PMID: 28202366
3
TRPV4 is a widely distributed cationic channel that transduces physical and chemical stimuli and is regulated through multiple mechanisms
PMID: 24756711
4
TRPV4 mediates crystal-induced inflammation through NLRP3 inflammasome activation in synovial macrophages and human PBMCs, driving interleukin-1Ξ² production in response to monosodium urate crystals
PMID: 34663597
5
TRPV4 regulates macrophage glucose uptake through GLUT1 and phagolysosome maturation during sepsis to limit lung injury through enhanced bacterial clearance
PMID: 38346220
6
TRPV4 mediates localized calcium entry at caveolin-1-rich microdomains in endothelial cells to activate nitric oxide synthase and suppress inflammatory gene expression
PMID: 38771648
7
TRPV4 mutations cause genetic disorders including Brachyolmia, Charcot-Marie-Tooth disease type 2C, spinal muscular atrophy, and hereditary motor and sensory neuropathy type 2; disease mechanisms involve altered oligomerization, trafficking, and degradation
PMID: 20676052
Disease Associationsβ“˜30
metatropic dysplasiaOpen Targets
0.84Strong
spondylometaphyseal dysplasia, Kozlowski typeOpen Targets
0.82Strong
Charcot-Marie-Tooth disease axonal type 2COpen Targets
0.79Strong
Autosomal dominant Charcot-Marie-Tooth disease type 2COpen Targets
0.75Strong
neuronopathy, distal hereditary motor, autosomal dominant 8Open Targets
0.75Strong
familial digital arthropathy-brachydactylyOpen Targets
0.73Strong
autosomal dominant brachyolmiaOpen Targets
0.72Strong
Scapuloperoneal spinal muscular atrophyOpen Targets
0.72Strong
spondyloepimetaphyseal dysplasia, Maroteaux typeOpen Targets
0.70Moderate
parastremmatic dwarfismOpen Targets
0.67Moderate
Spondyloepiphyseal dysplasia, Maroteaux typeOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.54Moderate
TRPV4-related bone disorderOpen Targets
0.53Moderate
brachyolmiaOpen Targets
0.51Moderate
Charcot-Marie-Tooth diseaseOpen Targets
0.51Moderate
familial avascular necrosis of femoral headOpen Targets
0.50Moderate
neuromuscular diseaseOpen Targets
0.46Moderate
Scapuloperoneal amyotrophyOpen Targets
0.46Moderate
skeletal dysplasiaOpen Targets
0.41Moderate
Tip-toe gaitOpen Targets
0.34Weak
Avascular necrosis of the femoral head, primary 2UniProt
Brachyolmia 3UniProt
Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2CUniProt
Digital arthropathy-brachydactyly, familialUniProt
Metatropic dysplasiaUniProt
Neuronopathy, distal hereditary motor, autosomal dominant 8UniProt
Parastremmatic dwarfismUniProt
Scapuloperoneal spinal muscular atrophyUniProt
Spondyloepiphyseal dysplasia, Maroteaux typeUniProt
Spondylometaphyseal dysplasia Kozlowski typeUniProt
Pathogenic Variants69
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)Pathogenic
Charcot-Marie-Tooth disease axonal type 2C|Neuromuscular disease|Neuronopathy, distal hereditary motor, autosomal dominant 8|not provided|Inborn genetic diseases|TRPV4-Related Hereditary Motor And Sensory Neuropathy
β˜…β˜…β˜†β˜†2025β†’ Residue 186
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)Pathogenic
Spondylometaphyseal dysplasia, Kozlowski type|Parastremmatic dwarfism|Neuromuscular disease;Skeletal dysplasia|not provided|Charcot-Marie-Tooth disease axonal type 2C|Metatropic dysplasia|Inborn genetic diseases|Neuronopathy, distal hereditary motor, autosomal dominant 8|Multiple epiphyseal dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 594
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)Pathogenic
Scapuloperoneal spinal muscular atrophy|Charcot-Marie-Tooth disease axonal type 2C|Neuronopathy, distal hereditary motor, autosomal dominant 8|not provided|Neuromuscular disease|Neuronopathy, distal hereditary motor, autosomal dominant|Inborn genetic diseases|TRPV4-related disorder|Neuronopathy, distal hereditary motor, autosomal dominant 8;Scapuloperoneal spinal muscular atrophy|TRPV4-Associated Disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 315
NM_021625.5(TRPV4):c.1780C>T (p.Arg594Cys)Likely pathogenic
Charcot-Marie-Tooth disease axonal type 2C|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 594
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)Pathogenic
Charcot-Marie-Tooth disease axonal type 2C|Scapuloperoneal spinal muscular atrophy|Neuromuscular disease|Neuronopathy, distal hereditary motor, autosomal dominant 8|not provided|Hereditary motor neuron disease|Distal spinal muscular atrophy|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 269
NM_021625.5(TRPV4):c.947G>A (p.Arg316His)Pathogenic
Charcot-Marie-Tooth disease axonal type 2C|Neuromuscular disease|EMG abnormality;Lower limb amyotrophy;Clubfoot|not provided|Charcot-Marie-Tooth disease
β˜…β˜…β˜†β˜†2025β†’ Residue 316
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)Pathogenic
Charcot-Marie-Tooth disease axonal type 2C|Scapuloperoneal spinal muscular atrophy|not provided|Charcot-Marie-Tooth disease|Neuromuscular disease|Neuronopathy, distal hereditary motor, autosomal dominant|TRPV4-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 316
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)Pathogenic
Metatropic dysplasia|Spondyloepimetaphyseal dysplasia, Maroteaux type|Skeletal dysplasia|Inborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2C|Parastremmatic dwarfism|Spondylometaphyseal dysplasia, Kozlowski type|TRPV4-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 799
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)Pathogenic
Neuronopathy, distal hereditary motor, autosomal dominant 8|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease|Neuromuscular disease|not provided|Inborn genetic diseases|11 conditions|TRPV4-related bone disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 269
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)Pathogenic
Charcot-Marie-Tooth disease axonal type 2C|not provided|Neuronopathy, distal hereditary motor, autosomal dominant 8|Skeletal dysplasia;Neuromuscular disease|Neuronopathy, distal hereditary motor, autosomal dominant|Charcot-Marie-Tooth disease|Spondylometaphyseal dysplasia, Kozlowski type
β˜…β˜…β˜†β˜†2025β†’ Residue 232
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)Pathogenic
Brachyrachia (short spine dysplasia)|Neuromuscular disease;Skeletal dysplasia|Skeletal dysplasia|Charcot-Marie-Tooth disease axonal type 2C|not provided|Charcot-Marie-Tooth disease|Metatropic dysplasia
β˜…β˜…β˜†β˜†2024β†’ Residue 620
NM_021625.5(TRPV4):c.944G>A (p.Arg315Gln)Pathogenic
not provided|Charcot-Marie-Tooth disease axonal type 2C
β˜…β˜…β˜†β˜†2024β†’ Residue 315
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del)Pathogenic
Skeletal dysplasia|not provided|Skeletal dysplasia and progressive central nervous system degeneration, lethal|Metatropic dysplasia|Charcot-Marie-Tooth disease axonal type 2C
β˜…β˜…β˜†β˜†2024β†’ Residue 471
NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln)Pathogenic
Brachyrachia (short spine dysplasia)|Skeletal dysplasia|not provided|Charcot-Marie-Tooth disease axonal type 2C
β˜…β˜…β˜†β˜†2024β†’ Residue 616
NM_021625.5(TRPV4):c.2391G>C (p.Glu797Asp)Likely pathogenic
Metatropic dysplasia
β˜…β˜…β˜†β˜†2024β†’ Residue 797
NM_021625.5(TRPV4):c.1851C>A (p.Phe617Leu)Pathogenic
Skeletal dysplasia|not provided|Spondylometaphyseal dysplasia, Kozlowski type|Charcot-Marie-Tooth disease axonal type 2C
β˜…β˜…β˜†β˜†2024β†’ Residue 617
NM_021625.5(TRPV4):c.2480C>A (p.Pro827His)Pathogenic
Charcot-Marie-Tooth disease axonal type 2C|TRPV4-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 827
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)Pathogenic
Spondyloepimetaphyseal dysplasia, Maroteaux type|Spondylometaphyseal dysplasia, Kozlowski type|Metatropic dysplasia|Neuromuscular disease;Skeletal dysplasia|Brachyrachia (short spine dysplasia)|not provided|Charcot-Marie-Tooth disease axonal type 2C|Scapuloperoneal spinal muscular atrophy
β˜…β˜…β˜†β˜†2023β†’ Residue 797
NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu)Pathogenic
Skeletal dysplasia|Charcot-Marie-Tooth disease axonal type 2C|Metatropic dysplasia
β˜…β˜…β˜†β˜†2023β†’ Residue 407
NM_021625.5(TRPV4):c.710G>T (p.Arg237Leu)Likely pathogenic
Charcot-Marie-Tooth disease axonal type 2C
β˜…β˜†β˜†β˜†2025β†’ Residue 237
View on ClinVar β†—
Drug Targets3
BUTAMBENUNKNOWN
Transient receptor potential cation channel subfamily A member 1 inhibitor
BUTAMBEN PICRATEUNKNOWN
Transient receptor potential cation channel subfamily A member 1 inhibitor
GSK2798745Phase II
Transient receptor potential cation channel subfamily V member 4 antagonist
heart failure
Related Genes
TRPM8Protein interaction98%PKD1Protein interaction97%PKD2Protein interaction97%TRPC1Protein interaction97%TRPC5Protein interaction97%PRKCDProtein interaction94%
Tissue Expression6 tissues
Liver
100%
Lung
17%
Heart
5%
Ovary
3%
Bone Marrow
2%
Brain
1%
Gene Interaction Network
Click a node to explore
TRPV4TRPM8PKD1PKD2TRPC1TRPC5PRKCD
PROTEIN STRUCTURE
Preparing viewer…
PDB8T1E Β· 2.77 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.66 [0.54–0.82]
RankingsWhere TRPV4 stands among ~20K protein-coding genes
  • #1,096of 20,598
    Most Researched312 Β· top 10%
  • #1,048of 5,498
    Most Pathogenic Variants69 Β· top quartile
  • #6,991of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedTRPV4
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Mechanosensitive TRPV4 is required for crystal-induced inflammation.
PMID: 34663597
Ann Rheum Dis Β· 2021
1.00
2
Modulation of the TRPV4 ion channel as a therapeutic target for disease.
PMID: 28202366
Pharmacol Ther Β· 2017
0.90
3
TRPV4 Regulates the Macrophage Metabolic Response to Limit Sepsis-induced Lung Injury.
PMID: 38346220
Am J Respir Cell Mol Biol Β· 2024
0.80
4
Mechanosensitive membrane domains regulate calcium entry in arterial endothelial cells to protect against inflammation.
PMID: 38771648
J Clin Invest Β· 2024
0.70
5
Functional coupling between TRPV4 channel and TMEM16F modulates human trophoblast fusion.
PMID: 35670667
Elife Β· 2022
0.64