TMC2

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]

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
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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]