TMC2

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Transmembrane channel-like 2
Identifiers
Symbol(s) TMC2; C20orf145; dJ686C3.3
External IDs OMIM: 606707 MGI: 2151017 HomoloGene: 25877
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 117532 192140
Ensembl ENSG00000149488 ENSMUSG00000060332
Uniprot Q8TDI7 Q8R4P4
Refseq NM_080751 (mRNA)
NP_542789 (protein)		 NM_138655 (mRNA)
NP_619596 (protein)
Location Chr 20: 2.47 - 2.57 Mb Chr 2: 129.89 - 129.96 Mb
Pubmed search [1] [2]

Transmembrane channel-like 2, also known as TMC2, is a human gene.[1]

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. Mutations in this gene may underlie hereditary disorders of balance and hearing.[1]

[edit] References

  1. ^ a b Entrez Gene: TMC2 transmembrane channel-like 2.

[edit] Further reading

  • Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. 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. 
  • Kurima K, Peters LM, Yang Y, et al. (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. 
  • 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. 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 (1): 24. doi:10.1186/1471-2164-4-24. PMID 12812529. 
  • Kurima K, Yang Y, Sorber K, Griffith AJ (2004). "Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis.". Genomics 82 (3): 300–8. PMID 12906855. 
  • 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. 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. PMID 16344560. 
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