TRPV3 gene

transient receptor potential cation channel subfamily V member 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Putative receptor-activated non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. May associate with TRPV1 and may modulate its activity. Is a negative regulator of hair growth and cycling: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen).

From NCBI Gene:

  • Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
  • Palmoplantar keratoderma, nonepidermolytic, focal 2

From UniProt:

Palmoplantar keratoderma, non-epidermolytic, focal 2 (FNEPPK2): A dermatological disorder characterized by non-epidermolytic, abnormal thickening of the skin on the palms and soles. Focal palmoplantar keratoderma consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. [MIM:616400]

Olmsted syndrome (OLMS): A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. [MIM:614594]

Cytogenetic Location: 17p13.2, which is the short (p) arm of chromosome 17 at position 13.2

Molecular Location: base pairs 3,510,502 to 3,557,995 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p13.2, which is the short (p) arm of chromosome 17 at position 13.2
  • FNEPPK2
  • OLMS
  • VRL3