TRPV3

Chr 17AD

transient receptor potential cation channel subfamily V member 3

Also known as: FNEPPK2, OLMS, OLMS1, VRL3

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Palmoplantar keratoderma, nonepidermolytic, focal 2MIM #616400
AD
Olmsted syndrome 1MIM #614594
AD
0
Active trials
90
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TRPV3 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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