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 |
|---|---|---|---|
| RS387907219 | Health Risk | Conflicting classifications of pathogenicity | Familial digital arthropathy-brachydactyly, Brachyrachia (short spine dysplasia), Metatropic dysplasia |
| RS541606391 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS545589086 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal dominant 8 |
| RS545966662 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C |
| RS546287338 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS548909101 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal dominant 8 |
| RS746597270 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C |
| RS750086412 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Spondylometaphyseal dysplasia, Kozlowski type |
| RS751139506 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS751647405 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C |
| RS751939888 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Charcot-Marie-Tooth disease axonal type 2C, Connective tissue disorder |
| RS754848195 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Spondyloepimetaphyseal dysplasia |
| RS754924433 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS756185743 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C |
| RS756526036 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C |
| RS758280554 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Neuronopathy |
| RS760044422 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS761542549 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C |
| RS762710224 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C |
| RS763266931 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763302555 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Neuronopathy, distal hereditary motor |
| RS763889344 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C, Neuronopathy |
| RS764715510 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C |
| RS764949536 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Neuronopathy |
| RS764970185 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C |
| RS771294425 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS775385702 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C |
| RS775634013 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C |
| RS777647151 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Congenital myopathy, Charcot-Marie-Tooth disease axonal type 2C |
| RS778478432 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS779715512 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, 11 conditions, Charcot-Marie-Tooth disease |
| RS878853090 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C |
| RS886042740 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS886048941 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2C, Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia |
| RS121912635 | Health Risk | Likely pathogenic | Connective tissue disorder, Connective tissue disorder |
| RS121912637 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Maroteaux type, Metatropic dysplasia |
| RS1341025285 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal dominant 8 |
| RS1392028993 | Health Risk | Likely pathogenic | Auditory neuropathy, Auditory neuropathy |
| RS1555204615 | Health Risk | Likely pathogenic | — |
| RS1889542235 | Health Risk | Likely pathogenic | — |
| RS1889547375 | Health Risk | Likely pathogenic | — |
| RS1889549195 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS1890124015 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS2136417904 | Health Risk | Likely pathogenic | Metatropic dysplasia, Metatropic dysplasia |
| RS2136430908 | Health Risk | Likely pathogenic | Metatropic dysplasia, Metatropic dysplasia |
| RS2136475122 | Health Risk | Likely pathogenic | Metatropic dysplasia, Metatropic dysplasia |
| RS2548717189 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS2548728770 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C |
| RS2548767534 | Health Risk | Likely pathogenic | Metatropic dysplasia, Metatropic dysplasia |
| RS267607145 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2C, Scapuloperoneal spinal muscular atrophy, Neuromuscular disease |