TMC2

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)
End	2,643,580 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	130,106,365 bp
RNA expression pattern
	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
	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
	117532
	192140
	ENSG00000149488
	ENSMUSG00000060332
	Q8TDI7
	Q8R4P4
	NM_080751
	NM_138655
	NP_542789
	NP_619596
	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

^ ^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.
^ 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".

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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
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.

This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000149488 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid11850618-5] 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.

[pmid12906855-6] 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.

[entrez-7] "Entrez Gene: TMC2 transmembrane channel-like 2".

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[4]

[5]

[6]

[7]

Function

Clinical significance

References

Further reading