From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
For the Italian television channel formerly known as TMC 2, see
MTV Italy .
Transmembrane channel-like protein 2 is a
protein that in humans is encoded by the TMC2
gene .
[5]
[6]
[7]
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 .
[7]
Clinical significance
Mutations in this gene may underlie
hereditary disorders of
balance and hearing.
[7]
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000149488 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000060332 –
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 .
^ 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 .
S2CID
40110588 .
^ 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 .
^
a
b
c
"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.
Bibcode :
2001Natur.414..865D .
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.
Bibcode :
2002PNAS...9916899M .
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 (1): 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 .