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    TMC6 transmembrane channel like 6 [ Homo sapiens (human) ]

    Gene ID: 11322, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    A Novel Large Deletion in the EVER1 Gene in a Family With Epidermodysplasia Verruciformis From India.

    A Novel Large Deletion in the EVER1 Gene in a Family With Epidermodysplasia Verruciformis From India.
    Godfred AC, Thomas Z, Peter D, Joseph A, Ravichandran L, George AA, Pulimood SA, Gaikwad P, Babu R, Thomas M, Thomas N, Chapla A.

    08/15/2024
    Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components.

    Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components.
    Wu CJ, Li X, Sommers CL, Kurima K, Huh S, Bugos G, Dong L, Li W, Griffith AJ, Samelson LE., Free PMC Article

    03/13/2021
    LncRNA TNRC6C-AS1 regulates UNC5B in thyroid cancer to influence cell proliferation, migration, and invasion as a competing endogenous RNA of miR-129-5p.

    LncRNA TNRC6C-AS1 regulates UNC5B in thyroid cancer to influence cell proliferation, migration, and invasion as a competing endogenous RNA of miR-129-5p.
    Hou S, Lin Q, Guan F, Lin C.

    05/10/2020
    these findings suggest that the disruption of CIB1-EVER1-EVER2-dependent keratinocyte-intrinsic immunity underlies the selective susceptibility to beta-HPVs of epidermodysplasia verruciformis patients.

    The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.
    de Jong SJ, Créquer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, Jabot-Hanin F, Imahorn E, Arias AA, Vahidnezhad H, Youssefian L, Markle JG, Patin E, D'Amico A, Wang CQF, Full F, Ensser A, Leisner TM, Parise LV, Bouaziz M, Maya NP, Cadena XR, Saka B, Saeidian AH, Aghazadeh N, Zeinali S, Itin P, Krueger JG, Laimins L, Abel L, Fuchs E, Uitto J, Franco JL, Burger B, Orth G, Jouanguy E, Casanova JL., Free PMC Article

    09/7/2019
    The present study did not show any significant association of the EVER1/2 polymorphisms (rs2290907and rs16970849) with cervical cancer.

    Genetic polymorphisms of FAS and EVER genes in a Greek population and their susceptibility to cervical cancer: a case control study.
    Pavlidou E, Daponte A, Egea R, Dardiotis E, Hadjigeorgiou GM, Barbadilla A, Agorastos T., Free PMC Article

    09/30/2017
    There were no differences in Ever1 SNPs between head and neck squamous cell carcinoma patients with human papilloma virus (HPV)-positive and HPV-negative tumors, and healthy controls.

    Variants of EVER1 and EVER2 (TMC6 and TMC8) and human papillomavirus status in patients with mucosal squamous cell carcinoma of the head and neck.
    Antonsson A, Law MH, Neale RE, Coman WB, Pryor DI, Study of Digestive Health (SDH), Porceddu SV, Whiteman DC.

    02/18/2017
    Findings suggest that SNP in EVER 1 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

    Genetic variations in the epidermodysplasia verruciformis (EVER/TMC) genes, cutaneous human papillomavirus infection and squamous cell carcinoma of the skin.
    Hampras SS, Rollison DE, Tommasino M, Gheit T, Schabath MB, Messina JL, Fenske NA, Cherpelis BS, Sondak VK, Iannacone MR, Schmitt M, Pawlita M., Free PMC Article

    10/1/2016
    TMC6/EVER1 and TMC8/EVER2 are known to be involved in the development of EV.

    Risk of Cutaneous Squamous Cell Carcinoma Development in Renal Transplant Recipients Is Independent of TMC/EVER Alterations.
    Burger B, Spörri I, Stegmann DA, De Mesmaker J, Schaub S, Itin PH, Steiger J, Arnold AW.

    06/28/2016
    TMC6 variants are associated with diminished age-of-onset of P. aeruginosa airway infection in children with cystic fibrosis.

    Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.
    Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, NHLBI GO Exome Sequencing Project, Go L, Gibson RL, Bamshad MJ., Free PMC Article

    06/11/2016
    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.

    Epidermodysplasia verruciformis in lipoid proteinosis: case report and discussion of pathophysiology.
    O'Blenes C, Pasternak S, Issekutz A, Gillis J, Chowdhury D, Finlayson L.

    10/31/2015
    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.

    Expression of the epidermodysplasia verruciformis-associated genes EVER1 and EVER2 is activated by exogenous DNA and inhibited by LMP1 oncoprotein from Epstein-Barr virus.
    Frecha C, Chevalier SA, van Uden P, Rubio I, Siouda M, Saidj D, Cohen C, Lomonte P, Accardi R, Tommasino M., Free PMC Article

    04/18/2015
    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.

    Merkel cell polyomavirus detection in a patient with familial epidermodysplasia verruciformis.
    Kwon EK, Halvorson CR, Rady P, Tyring S, Nguyen HP, Kao GF, Gaspari AA.

    03/1/2014
    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

    EVER proteins, key elements of the natural anti-human papillomavirus barrier, are regulated upon T-cell activation.
    Lazarczyk M, Dalard C, Hayder M, Dupre L, Pignolet B, Majewski S, Vuillier F, Favre M, Liblau RS., Free PMC Article

    01/5/2013
    Data support the involvement of the TMC6/8 region in cervix cancer susceptibility.

    Contribution of TMC6 and TMC8 (EVER1 and EVER2) variants to cervical cancer susceptibility.
    Castro FA, Ivansson EL, Schmitt M, Juko-Pecirep I, Kjellberg L, Hildesheim A, Gyllensten UB, Pawlita M., Free PMC Article

    03/17/2012
    epidermodysplasia verruciformis in a father and a son with typical histologic and clinical findings that occur in the absence of mutations in EVER1

    Autosomal dominant epidermodysplasia verruciformis lacking a known EVER1 or EVER2 mutation.
    McDermott DF, Gammon B, Snijders PJ, Mbata I, Phifer B, Howland Hartley A, Lee CC, Murphy PM, Hwang ST., Free PMC Article

    01/21/2010
    Observational study of genotype prevalence. (HuGE Navigator)

    Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP.
    Donfack J, Buchinsky FJ, Derkay CS, Steinberg BM, Choi SS, Conley SF, Meyer CM 3rd, McClay JE, Campisi P, Hu FZ, Preston RA, Abramson AL, Ehrlich GD, Post JC, Donfack J, Buchinsky FJ, Derkay CS, Steinberg BM, Choi SS, Conley SF, Meyer CM 3rd, McClay JE, Campisi P, Hu FZ, Preston RA, Abramson AL, Ehrlich GD, Post JC.

    03/13/2008
    HPV16 E5 protein binds to EVER and ZnT-1 and blocks their negative regulation

    Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses.
    Lazarczyk M, Pons C, Mendoza JA, Cassonnet P, Jacob Y, Favre M., Free PMC Article

    01/21/2010
    Nonsense mutations of EVER1gene is associated with epidermodysplasia verruciformis

    Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis.
    Tate G, Suzuki T, Kishimoto K, Mitsuya T.

    01/21/2010
    four mutations in recurrent respiratory papillomatosis patients might indicate that EVER 1 alleles are not associated with susceptibility to RRP

    Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP.
    Donfack J, Buchinsky FJ, Derkay CS, Steinberg BM, Choi SS, Conley SF, Meyer CM 3rd, McClay JE, Campisi P, Hu FZ, Preston RA, Abramson AL, Ehrlich GD, Post JC, Donfack J, Buchinsky FJ, Derkay CS, Steinberg BM, Choi SS, Conley SF, Meyer CM 3rd, McClay JE, Campisi P, Hu FZ, Preston RA, Abramson AL, Ehrlich GD, Post JC.

    01/21/2010
    Mutations in EVER1 are associated with epidermodysplasia verruciformis.

    Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis.
    Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M.

    01/21/2010
    The growing number of mutations in epidermodysplasia verruciformis (EV) pedigrees supports the hypothesis that EVER1 and EVER2 are the molecular basis of EV.

    Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis.
    Zuo YG, Ma D, Zhang Y, Qiao J, Wang B.

    01/21/2010
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