TRPV3 Chromosome 17
Transient receptor potential cation channel subfamily V member 3
Upload your DNA to see your personal genotypes for variants in TRPV3.
What This Gene Does
This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
"Transient receptor potential cation channels|Ankyrin repeat domain containing"
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000167723
Associated Conditions (4)
Isolated focal non-epidermolytic palmoplantar keratoderma
Inborn genetic diseases
TRPV3-related disorder
Olmsted syndrome 1
Key Variants
RS11654533
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS137894635
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS146839243
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS147669174
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148038901
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150743616
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, TRPV3-related disorder, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS151284467
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200894372
Conflicting classifications of pathogenicity
Health Risk
RS201062148
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS367941175
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS370662760
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS375812083
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11654533 | Health Risk | Conflicting classifications of pathogenicity | Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma |
| RS137894635 | Health Risk | Conflicting classifications of pathogenicity | Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma |
| RS146839243 | Health Risk | Conflicting classifications of pathogenicity | Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma |
| RS147669174 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148038901 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150743616 | Health Risk | Conflicting classifications of pathogenicity | Isolated focal non-epidermolytic palmoplantar keratoderma, TRPV3-related disorder, Isolated focal non-epidermolytic palmoplantar keratoderma |
| RS151284467 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200894372 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201062148 | Health Risk | Conflicting classifications of pathogenicity | Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma |
| RS367941175 | Health Risk | Conflicting classifications of pathogenicity | Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma |
| RS370662760 | Health Risk | Conflicting classifications of pathogenicity | Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma |
| RS375812083 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS541746987 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS550564945 | Health Risk | Conflicting classifications of pathogenicity | Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma |
| RS746336365 | Health Risk | Conflicting classifications of pathogenicity | Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma |
| RS749226142 | Health Risk | Conflicting classifications of pathogenicity | Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma |
| RS764913664 | Health Risk | Conflicting classifications of pathogenicity | Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma |
| RS781225444 | Health Risk | Conflicting classifications of pathogenicity | Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma |
| RS1057517884 | Health Risk | Pathogenic | Olmsted syndrome 1, Isolated focal non-epidermolytic palmoplantar keratoderma, Olmsted syndrome 1 |
| RS1057524115 | Health Risk | Pathogenic | — |
| RS199473704 | Health Risk | Pathogenic | Olmsted syndrome 1, Olmsted syndrome 1, Olmsted syndrome 1 |
| RS199473705 | Health Risk | Pathogenic | Olmsted syndrome 1, Olmsted syndrome 1 |
| RS372767436 | Health Risk | Pathogenic | — |
| RS786205869 | Health Risk | Pathogenic | Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma |
| RS786205868 | Health Risk | Pathogenic/Likely pathogenic | Olmsted syndrome 1, Isolated focal non-epidermolytic palmoplantar keratoderma, Olmsted syndrome 1 |