Recombinant Human Transmembrane channel-like protein 8 (TMC8), partial

1. The relatively high proportion of EV patients without mutation in TMC6/8 indicates the existence of EV-causing mutations in additional, presently unknown gene(s). However, a homozygous TMC8 splice site mutation in our patients resulted in aberrant transcripts which cannot retain the healthy phenotype PMID: 28646613
2. The present study did not show any significant association of the EVER1/2 polymorphisms (rs2290907and rs16970849) with cervical cancer. PMID: 27899077
3. There were no differences in Ever2 SNPs between head and neck squamous cell carcinoma patients with human papilloma virus (HPV)-positive and HPV-negative tumors, and healthy controls. PMID: 27097911
4. Findings suggest that SNPs in EVER2 may be involved in the development of premalignant skin lesions that harbour beta-HPV, perhaps giving rise to SCC tumours that have lost beta-HPV gene expression during progression. PMID: 26126409
5. TMC6/EVER1 and TMC8/EVER2 are known to be involved in the development of EV. PMID: 26227733
6. A common genetic variation in TMC8 is associated with high-risk HPV infection and head and neck squamous cell carcinoma etiology. PMID: 25853559
7. We found a possible correlation between the EVER2 TT genotype and the development of AK, suggesting a potential role of this polymorphism in the development of AK. PMID: 25495765
8. EV is also a rare autosomal recessive genodermatosis involving susceptibility to human papillomavirus (HPV) infections and squamous cell carcinoma, caused in most cases by homozygous mutations in EVER1 or EVER2. PMID: 23534907
9. TMC8 was found to be localized in the endoplasmic reticulum (ER), where it inhibited receptor mediated Ca(2+) release, activation of Ano1 and volume regulated LRRC8-related Cl(-) currents. PMID: 25220380
10. Expression of both EVER1 and EVER2 in B cells is activated immediately after Epstein-Barr virus (EBV) infection, whereas at later stages, it is strongly repressed by latent membrane protein 1-activated NF-kappaB signaling. PMID: 25378492
11. Loss of the HPV-infection resistance EVER2 protein impairs NF-kappaB signaling pathways in keratinocytes. PMID: 24586810
12. We report a case of Merkel cell polyomavirus detection in the skin of a patient with epidermodysplasia verruciformis (EDV) and a family history remarkable for an unusual inheritance pattern for EDV. PMID: 23535066
13. Ever2 interacts with the N-terminal domain of TRADD, impairs the recruitment of TRAF2 and RIPK1 and promotes apoptosis. PMID: 23429285
14. EVER2-deficient patients display mild T-cell abnormalities: a significant increase of memory CD4+ and effector memory CD8+ T cells, a bias of the T cell receptor Valphabeta and Vgammadelta repertoires and an increase of skin-homing CD4+ T-cell subsets. PMID: 22903682
15. EVER proteins appear as key components of the activation-dependent regulation of Zn(2+) concentration in T cells. However, the impact of EVER-deficiency in T cells on EV pathogenesis remains to be elucidated PMID: 22761942
16. study describes the presence of two previously unreported homozygous mutations in the EVER2 gene in two Italian epidermodysplasia verruciformis patients, each of whom have already developed more than 10 non-melanoma skin cancers PMID: 22158547
17. Data support the involvement of the TMC6/8 region in cervix cancer susceptibility. PMID: 21387292
18. Results underline the possible relevance of the EVER2/TMC8 single nucleotide polymorphism rs7208422 in influencing susceptibility to beta-papillomaviruses and their oncogenic potential. PMID: 21196704
19. Mutations in EVER2 are associated with epidermodysplasia verruciformis. PMID: 12426567
20. study reports a novel nonsense mutation of the TMC8 gene in Brazilian patients with epidermodysplasia verruciformis PMID: 17711520
21. Genetic variation in the EVER2 gene is associated with squamous cell carcinoma of the skin PMID: 18224692
22. epidermodysplasia verruciformis in a father and a son with typical histologic and clinical findings that occur in the absence of mutations in EVER1 or EVER2. PMID: 19706093

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HGNC: 20474

OMIM: 226400

KEGG: hsa:147138

STRING: 9606.ENSP00000325561

UniGene: Hs.592102