TMC2
| Transmembrane channel-like 2 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | TMC2 ; C20orf145; dJ686C3.3 | ||||||||||
| External IDs | OMIM: 606707 MGI: 2151017 HomoloGene: 25877 GeneCards: TMC2 Gene | ||||||||||
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| RNA expression pattern | |||||||||||
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| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 117532 | 192140 | |||||||||
| Ensembl | ENSG00000149488 | ENSMUSG00000060332 | |||||||||
| UniProt | Q8TDI7 | Q8R4P4 | |||||||||
| RefSeq (mRNA) | NM_080751 | NM_138655 | |||||||||
| RefSeq (protein) | NP_542789 | NP_619596 | |||||||||
| Location (UCSC) | Chr 20: 2.52 – 2.62 Mb | Chr 2: 130.2 – 130.26 Mb | |||||||||
| PubMed search | |||||||||||
Transmembrane channel-like protein 2 is a protein that in humans is encoded by the TMC2 gene.[1][2][3]
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.[3]
Clinical significance
Mutations in this gene may underlie hereditary disorders of balance and hearing.[3]
References
- ↑ 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 (Mar 2002). "Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function". Nat Genet 30 (3): 277–84. doi:10.1038/ng842. PMID 11850618.
- ↑ Kurima K, Yang Y, Sorber K, Griffith AJ (Aug 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.
- ↑ 3.0 3.1 3.2 "Entrez Gene: TMC2 transmembrane channel-like 2".
Further reading
- Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Deloukas P, Matthews LH, Ashurst J et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "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.
- 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: 24. doi:10.1186/1471-2164-4-24. PMC 165604. PMID 12812529.
- Clark HF, Gurney AL, Abaya E et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
- 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.
- Kimura K, Wakamatsu A, Suzuki Y et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.