TMC2

Transmembrane channel-like 2
Identifiers
Symbols	TMC2 ; C20orf145
External IDs	OMIM: 606707 MGI: 2151017 HomoloGene: 25877 GeneCards: TMC2 Gene
Gene ontology Molecular function • voltage-gated calcium channel activity Cellular component • integral component of membrane • stereocilium bundle tip Biological process • detection of mechanical stimulus involved in sensory perception of sound • vestibular reflex • calcium ion transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
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: 2.54 – 2.64 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

1. 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.
2. 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. "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.