TMC2

For the Italian television channel formerly known as TMC 2, see MTV Italy.

TMC2
Identifiers
Aliases	TMC2 , C20orf145, dJ686C3.3, transmembrane channel like 2
External IDs	OMIM: 606707; MGI: 2151017; HomoloGene: 25877; GeneCards: TMC2; OMA:TMC2 - orthologs
Gene location (Human) Chr. Chromosome 20 (human) [1] Band 20p13 Start 2,536,573 bp [1] End 2,643,580 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 F1 Start 130,037,114 bp [2] End 130,106,365 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar hemisphere right hemisphere of cerebellum anterior pituitary hypothalamus nucleus accumbens ganglionic eminence right lung amygdala right frontal lobe caudate nucleus Top expressed in ampullary crest morula macula of utricle zygote blastocyst bone cranium neurocranium chondrocranium petrous part of the temporal bone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function voltage-gated calcium channel activity mechanosensitive ion channel activity molecular function ion channel activity Cellular component membrane stereocilium tip integral component of membrane plasma membrane cellular component integral component of plasma membrane Biological process ion transport vestibular reflex calcium ion transmembrane transport regulation of calcium ion transmembrane transport detection of mechanical stimulus involved in sensory perception of sound Sources:Amigo / QuickGO
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: 130.04 – 130.11 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000149488 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000060332 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "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.