Protein-coding gene in the species Homo sapiens
TMC8 |
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Identifiers |
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Aliases | TMC8, EV2, EVER2, EVIN2, transmembrane channel like 8 |
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External IDs | OMIM: 605829; MGI: 2669037; HomoloGene: 45126; GeneCards: TMC8; OMA:TMC8 - orthologs |
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Gene location (Human) |
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![Chromosome 17 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/0/00/Ideogram_human_chromosome_17.svg/300px-Ideogram_human_chromosome_17.svg.png) | Chr. | Chromosome 17 (human)[1] |
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| Band | 17q25.3 | Start | 78,130,770 bp[1] |
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End | 78,142,968 bp[1] |
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Gene location (Mouse) |
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![Chromosome 11 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/a/a5/Ideogram_house_mouse_chromosome_11.svg/260px-Ideogram_house_mouse_chromosome_11.svg.png) | Chr. | Chromosome 11 (mouse)[2] |
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| Band | 11|11 E2 | Start | 117,672,902 bp[2] |
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End | 117,683,936 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - granulocyte
- spleen
- appendix
- lymph node
- blood
- thymus
- mucosa of ileum
- bone marrow cells
- monocyte
- superficial temporal artery
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| Top expressed in | - granulocyte
- thymus
- yolk sac
- blood
- morula
- embryo
- blastocyst
- stomach
- transitional epithelium of urinary bladder
- tail of embryo
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - signaling receptor binding
- protein binding
- ion channel activity
- mechanosensitive ion channel activity
| Cellular component | - cytoplasm
- integral component of membrane
- Golgi apparatus
- nuclear membrane
- extracellular exosome
- endoplasmic reticulum membrane
- endoplasmic reticulum
- membrane
- extracellular space
- integral component of plasma membrane
| Biological process | - negative regulation of protein oligomerization
- regulation of extrinsic apoptotic signaling pathway via death domain receptors
- zinc ion homeostasis
- ion transport
- negative regulation of protein binding
- regulation of cell growth
- transport
- ion transmembrane transport
- transmembrane transport
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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NM_001195088 NM_001195089 NM_001195090 NM_181856 |
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RefSeq (protein) | | |
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NP_001182017 NP_001182018 NP_001182019 NP_862904 |
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Location (UCSC) | Chr 17: 78.13 – 78.14 Mb | Chr 11: 117.67 – 117.68 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Transmembrane channel-like protein 8 is a protein which in humans is encoded by the TMC8 gene.[5][6]
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.[6]
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.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000167895 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050106 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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" (PDF). Nature Genetics. 32 (4): 579–81. doi:10.1038/ng1044. PMID 12426567. S2CID 20013445.[permanent dead link]
- ^ a b c "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. S2CID 7827573.
- 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. Bibcode:2002PNAS...9916899M. 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. S2CID 34199539.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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