TMC2
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{For|the Italian television channel formerly known as TMC 2|MTV Italy}}
{{Infobox_gene}}
Transmembrane channel-like protein 2 is a protein that in humans is encoded by the TMC2 gene.{{cite journal | vauthors = Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, ((Battey JF Jr)), Keats BJ, Wilcox ER, Friedman TB, Griffith AJ | title = Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function | journal = Nat Genet | volume = 30 | issue = 3 | pages = 277–84 |date=Mar 2002 | pmid = 11850618 | doi = 10.1038/ng842 | s2cid = 40110588 | url = https://zenodo.org/record/1233417 }}{{cite journal | vauthors = Kurima K, Yang Y, Sorber K, Griffith AJ | title = Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis | journal = Genomics | volume = 82 | issue = 3 | pages = 300–8 |date=Aug 2003 | pmid = 12906855 | doi =10.1016/S0888-7543(03)00154-X | url = https://zenodo.org/record/1260101 }}{{cite web | title = Entrez Gene: TMC2 transmembrane channel-like 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=117532}}
Function
This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, expression in the inner ear suggests that it may be crucial for normal auditory function.
Clinical significance
Mutations in this gene may underlie hereditary disorders of balance and hearing.
References
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Further reading
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- {{cite journal | vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA Cloning Using In Vitro Site-Specific Recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000 | pmc=310948 }}
- {{cite journal |vauthors=Deloukas P, Matthews LH, Ashurst J, etal |title=The DNA sequence and comparative analysis of human chromosome 20 |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a |bibcode=2001Natur.414..865D |doi-access= free }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal | vauthors=Keresztes G, Mutai H, Heller S |title=TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins |journal=BMC Genomics |volume=4 |issue=1 |pages= 24 |year= 2003 |pmid= 12812529 |doi= 10.1186/1471-2164-4-24 | pmc=165604 |doi-access=free }}
- {{cite journal |vauthors=Clark HF, Gurney AL, Abaya E, etal |title=The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 | pmc=403697 }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
- {{cite journal |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 }}
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