TMC8 Gene

The TMC8 gene (TMC8 stands for "Transmembrane Channel Like 8", is also called EVER2) is a protein-coding gene located on chromosome 17q25.3. The TMC6 gene encodes a transmembrane channel like protein with 10 transmembrane domains and 2 leucine zipper motifs. The TMC8 protein is localized in the endoplasmic reticulum, where it forms a transmembrane channel. Transmembrane channel 8 protein (TMC8) is a key gene that influences susceptibility to HPV and plays an important role in regulating T cells.

Diseases associated with TMC8 include epidermodysplasia verruciformis. Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomavirus (HPV) and a high rate of progression to squamous cell carcinoma (Kim T et al 2010) on sun-exposed skin. TMC8 is upregulated in PLate epithelial carcinomas in head and neck HNSC (Lin B et al 2021). High expression appears to be associated with better prognosis.

1. Burger B et al (2014) Epidermodysplasia verruciformis. Curr Probl Dermatol 45:123-131.
2. Kim T et al (2010) Development of aggressive squamous cell carcinoma in epidermodysplasia verruciformis associated with human papillomavirus type 22b. Dermatology 220:326-328.
3. Lin B et al. (2021) Comprehensive co-expression analysis reveals TMC8 as a prognostic immune-associated gene in head and neck squamous cancer. Oncol Lett 22:498. doi: 10.3892/ol.2021.12759.
4. López-Ramírez S et al (2020) Next-generation sequencing identifies a homozygous nonsense p.Tyr370* mutation of the TMC6 gene in a Mexican pedigree with Epidermodysplasia Verruciformis. Rev Invest Clin doi: 10.24875/RIC.20000415.
5. Wu CJ et al (2020) Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components. J Biol Chem 295:16086-16099.