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Gene Review

TMC8  -  transmembrane channel-like 8

Homo sapiens

Synonyms: EV2, EVER2, EVIN2, Epidermodysplasia verruciformis protein 2, Transmembrane channel-like protein 8
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High impact information on TMC8

  • The gene products EVER1 and EVER2 have features of integral membrane proteins and are localized in the endoplasmic reticulum [1].
  • Haplotype analysis allowed to map a candidate region for a second epidermodysplasia verruciformis susceptibility locus (EV2) within the 8 cM interval between markers D2S171 and D2S2347 of the 2p21-p24 region [2].
  • Venous lactate levels did not increase after EEL or EV2 [3].
  • During EV2, the weight, the height through which it was lifted and the frequency of voluntary contractions were altered to produce a similar O2 consumption and CO2 production as during EEL [3].
  • Here we describe six additional TMC paralogs (TMC3 to TMC8) in humans and mice, as well as homologs in other species. cDNAs spanning the full length of the predicted open reading frames of the mammalian genes were cloned and sequenced [4].

Biological context of TMC8


Other interactions of TMC8

  • Here we report the identification of nonsense mutations in two adjacent novel genes, EVER1 and EVER2, that are associated with the disease [1].

Analytical, diagnostic and therapeutic context of TMC8

  • METHODS: PCR and direct sequencing of the EVER1 and EVER2 genes were used to identify and confirm the mutations in our probands in the two families [5].


  1. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Ramoz, N., Rueda, L.A., Bouadjar, B., Montoya, L.S., Orth, G., Favre, M. Nat. Genet. (2002) [Pubmed]
  2. Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25. Ramoz, N., Taïeb, A., Rueda, L.A., Montoya, L.S., Bouadjar, B., Favre, M., Orth, G. J. Invest. Dermatol. (2000) [Pubmed]
  3. Acute ventilatory responses to hypoxia during voluntary and electrically induced leg exercise in man. Pandit, J.J., Robbins, P.A. J. Physiol. (Lond.) (1994) [Pubmed]
  4. Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. Kurima, K., Yang, Y., Sorber, K., Griffith, A.J. Genomics (2003) [Pubmed]
  5. Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis. Zuo, Y.G., Ma, D., Zhang, Y., Qiao, J., Wang, B. J. Dermatol. Sci. (2006) [Pubmed]
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