TMC8
| Transmembrane channel-like 8 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | TMC8 ; EV2; EVER2; EVIN2 | ||||||||||
| External IDs | OMIM: 605829 MGI: 2669037 HomoloGene: 45126 GeneCards: TMC8 Gene | ||||||||||
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| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 147138 | 217356 | |||||||||
| Ensembl | ENSG00000167895 | ENSMUSG00000050106 | |||||||||
| UniProt | Q8IU68 | Q7TN58 | |||||||||
| RefSeq (mRNA) | NM_152468 | NM_001195088 | |||||||||
| RefSeq (protein) | NP_689681 | NP_001182017 | |||||||||
| Location (UCSC) | Chr 17: 76.13 – 76.14 Mb | Chr 11: 117.78 – 117.79 Mb | |||||||||
| PubMed search | |||||||||||
Transmembrane channel-like 8 is a protein which in humans is encoded by the TMC8 gene.[1][2]
Function
The protein encoded by this gene is an integral membrane protein that localize to the endoplasmic reticulum and is predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs.[2]
Clinical significance
Mutations in the TMC8 gene are associated with epidermodysplasia verruciformis (EV), an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin.[2]
References
- ↑ Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M (December 2002). "Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis". Nature Genetics 32 (4): 579–81. doi:10.1038/ng1044. PMID 12426567.
- ↑ 2.0 2.1 2.2 "Entrez Gene: TMC8 transmembrane channel-like 8".
Further reading
- Olsen JV, Blagoev B, Gnad F et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- Ramoz N, Taïeb A, Rueda LA et al. (2000). "Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25.". J. Invest. Dermatol. 114 (6): 1148–53. doi:10.1046/j.1523-1747.2000.00996.x. PMID 10844558.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Keresztes G, Mutai H, Heller S (2003). "TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins.". BMC Genomics 4 (1): 24. doi:10.1186/1471-2164-4-24. PMC 165604. PMID 12812529.
- Strausberg RL, Feingold EA, Grouse LH et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Patel AS, Karagas MR, Pawlita M et al. (2008). "Cutaneous human papillomavirus infection, the EVER2 gene and incidence of squamous cell carcinoma: a case-control study.". Int. J. Cancer 122 (10): 2377–9. doi:10.1002/ijc.23377. PMC 2705140. PMID 18224692.
- Zavattaro E, Azzimonti B, Mondini M et al. (2008). "Identification of defective Fas function and variation of the perforin gene in an epidermodysplasia verruciformis patient lacking EVER1 and EVER2 mutations.". J. Invest. Dermatol. 128 (3): 732–5. doi:10.1038/sj.jid.5701124. PMID 17960179.
- Lazarczyk M, Pons C, Mendoza JA et al. (2008). "Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses.". J. Exp. Med. 205 (1): 35–42. doi:10.1084/jem.20071311. PMC 2234378. PMID 18158319.
- Kurima K, Yang Y, Sorber K, Griffith AJ (2003). "Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis.". Genomics 82 (3): 300–8. doi:10.1016/S0888-7543(03)00154-X. PMID 12906855.
- Rady PL, De Oliveira WR, He Q et al. (2007). "Novel homozygous nonsense TMC8 mutation detected in patients with epidermodysplasia verruciformis from a Brazilian family.". Br. J. Dermatol. 157 (4): 831–3. doi:10.1111/j.1365-2133.2007.08123.x. PMID 17711520.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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