TRPV3 Gene

TRPV3 (TRPV3 is the acronym forTransient Receptor Potential Cation Channel Subfamily V Member 3) is a protein-coding gene whose gene locus is 17p13.2. TRPV3 belongs to the vanilloid receptor -TRPV family.

Diseases associated with TRPV3 include:

• Nonepidermolytic Focal Palmoplantar Keratosis 2 (NEPPK2) (see also Nonepidermolytic Focal Palmoplantar Keratosis1 (NEPPK1).

and

• Olmsted syndrome with mutation in TRPV3 (Agarwala MK et al. 2015).

Associated metabolic pathways include ion channel activity and cation channel activity. An important paralog of this gene is TRPV4.

The protein encoded by the TRPV3 gene belongs to a family of non-selective cation channels (vanilloid receptor family -TRPV) that play a role in a variety of processes, including temperature sensing and vasoregulation. The vanilloid receptor family (TRPV) belongs to the transient receptor potential (TRP) superfamily and consists of six members (TRPV1-6). The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin and are activated by physiological temperatures. Activation of the TRPV3 protein channel occurs at temperatures between 22 and 40 degrees Celsius.

The TRPV3 protein is a putative receptor-activated, non-selective, calcium-permeable cation channel. It is activated by innocuous (warm) temperatures and shows an enhanced response at deleterious temperatures above 39 degrees Celsius (Luo Jet al. 2014). Upon activation, outward rectification occurs. TRPV3 Can bind to the TRPV1 protein and modulate its activity. TRPV3 protein is a negative regulator of hair growth and cycle: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (Yan K et al 2019).

The TRPV3 gene is located in close proximity to another TRPV family gene on chromosome 17, and the two encoded proteins are thought to associate with each other and form heteromeric channels. Several transcript variants encoding different isoforms have been found for the TRPV3 gene.

Vanilloids are a group of compounds structurally related to capsaicin and are thought to exert their effects via vanilloid receptors.

1. Agarwala MK et al (2015) Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3. British Journal of Dermatology 174:209-211.
2. Broad LM et al (2016) TRPV3 in Drug Development. Pharmaceuticals (Basel) 9:55.
3. Liu Q et al. (2021) Therapeutic inhibition of keratinocyte TRPV3 sensory channel by local anesthetic dyclonine. Elife 10:e68128.
4. Luo Jet al (2014) Thermally activated TRPV3 channels. Curr Top Membr 74:325-364.
5. Qu Y et al. (2019) Inhibition of the Warm Temperature-Activated Ca2+-Permeable Transient Receptor Potential Vanilloid TRPV3 Channel Attenuates Atopic Dermatitis. Mol Pharmacol. 96: 393-400.
6. Yan K et al. (2019) Pharmacological Activation of Thermo-Transient Receptor Potential Vanilloid 3 Channels Inhibits Hair Growth by Inducing Cell Death of Hair Follicle Outer Root Sheath. J Pharmacol Exp Ther 370:299-307.