TRPV4 Chromosome 12
Transient receptor potential cation channel subfamily V member 4
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What This Gene Does
This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
Gene Info
Gene Group
"Transient receptor potential cation channels|Ankyrin repeat domain containing"
Locus Type
gene with protein product
Location
12q24.11
Ensembl
ENSG00000111199
Associated Conditions (38)
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease axonal type 2C
Tip-toe gait
Inborn genetic diseases
TRPV4-related disorder
Scapuloperoneal spinal muscular atrophy
Neuronopathy
distal hereditary motor
autosomal dominant 8
Brachyrachia (short spine dysplasia)
Metatropic dysplasia
Spondylometaphyseal dysplasia
Kozlowski type
Connective tissue disorder
Distal myopathy
Charcot-Marie-Tooth disease type 4
TRPV4-related bone disorder
TRPV4-associated skeletal dysplasias
11 conditions
Neuromuscular disease
+18 more conditions
Key Variants
RS1006063188
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease
Health Risk
RS1035249096
Conflicting classifications of pathogenicity
Tip-toe gait, Tip-toe gait
Health Risk
RS1056692999
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1064795536
Conflicting classifications of pathogenicity
TRPV4-related disorder, Charcot-Marie-Tooth disease axonal type 2C, TRPV4-related disorder
Health Risk
RS115976458
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2C, Scapuloperoneal spinal muscular atrophy, Neuronopathy
Health Risk
RS1289139464
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C, Tip-toe gait
Health Risk
RS1318320106
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C
Health Risk
RS138396764
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2C, Spondylometaphyseal dysplasia, Kozlowski type
Health Risk
RS138986228
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2C, Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia
Health Risk
RS139300843
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
Health Risk
RS139580010
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C
Health Risk
RS140535889
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2C, Neuronopathy, distal hereditary motor
Health Risk
All Variants (142)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS267607146 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Scapuloperoneal spinal muscular atrophy, Neuromuscular disease |
| RS387906324 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Maroteaux type, Skeletal dysplasia |
| RS387906905 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Neuromuscular disease, Clubfoot |
| RS515726172 | Health Risk | Likely pathogenic | Skeletal dysplasia, Skeletal dysplasia |
| RS769107613 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS781358829 | Health Risk | Likely pathogenic | Metatropic dysplasia, Metatropic dysplasia |
| RS868185064 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS121912632 | Health Risk | Pathogenic | Brachyrachia (short spine dysplasia), Skeletal dysplasia, Charcot-Marie-Tooth disease axonal type 2C |
| RS121912634 | Health Risk | Pathogenic | Spondylometaphyseal dysplasia, Kozlowski type, Skeletal dysplasia |
| RS121912636 | Health Risk | Pathogenic | Metatropic dysplasia, Skeletal dysplasia, Metatropic dysplasia |
| RS1555205335 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1565868973 | Health Risk | Pathogenic | Metatropic dysplasia, Metatropic dysplasia |
| RS2136466291 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS2136468103 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS267607143 | Health Risk | Pathogenic | Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Neuronopathy |
| RS267607147 | Health Risk | Pathogenic | Metatropic dysplasia, Metatropic dysplasia, Skeletal dysplasia |
| RS267607148 | Health Risk | Pathogenic | Spondylometaphyseal dysplasia, Kozlowski type, Neuromuscular disease |
| RS267607149 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Maroteaux type, Spondylometaphyseal dysplasia |
| RS267607150 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Maroteaux type, Skeletal dysplasia |
| RS387906904 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Neuronopathy, distal hereditary motor |
| RS387906906 | Health Risk | Pathogenic | Metatropic dysplasia, Neuromuscular disease, Skeletal dysplasia |
| RS387906907 | Health Risk | Pathogenic | Metatropic dysplasia, Neuromuscular disease, Skeletal dysplasia |
| RS387907220 | Health Risk | Pathogenic | Familial digital arthropathy-brachydactyly, Familial digital arthropathy-brachydactyly |
| RS397514473 | Health Risk | Pathogenic | Metatropic dysplasia, Skeletal dysplasia, TRPV4-related disorder |
| RS397514474 | Health Risk | Pathogenic | Metatropic dysplasia, Neuromuscular disease, Skeletal dysplasia |
| RS515726153 | Health Risk | Pathogenic | Skeletal dysplasia, Metatropic dysplasia, Charcot-Marie-Tooth disease axonal type 2C |
| RS515726163 | Health Risk | Pathogenic | Skeletal dysplasia, Metatropic dysplasia, Skeletal dysplasia |
| RS515726166 | Health Risk | Pathogenic | Neuromuscular disease, Skeletal dysplasia, Spondyloepimetaphyseal dysplasia |
| RS515726170 | Health Risk | Pathogenic | Familial digital arthropathy-brachydactyly, Familial digital arthropathy-brachydactyly |
| RS746368269 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS763354006 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS767079858 | Health Risk | Pathogenic | TRPV4-related bone disorder, TRPV4-related bone disorder |
| RS876661124 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal dominant |
| RS961707608 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS1064795696 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS121912633 | Health Risk | Pathogenic/Likely pathogenic | Brachyrachia (short spine dysplasia), Skeletal dysplasia, Neuromuscular disease |
| RS2136413100 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2C, TRPV4-related disorder, Charcot-Marie-Tooth disease axonal type 2C |
| RS267607144 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal dominant 8 |
| RS397514494 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Neuromuscular disease, Neuronopathy |
| RS515726154 | Health Risk | Pathogenic/Likely pathogenic | Skeletal dysplasia, Skeletal dysplasia and progressive central nervous system degeneration, lethal |
| RS515726162 | Health Risk | Pathogenic/Likely pathogenic | Skeletal dysplasia, Charcot-Marie-Tooth disease axonal type 2C, Spondylometaphyseal dysplasia |
| RS77975504 | Health Risk | Pathogenic/Likely pathogenic | Spondylometaphyseal dysplasia, Kozlowski type, Parastremmatic dwarfism |