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 MGI: 2151017 HomoloGene: 25877 GeneCards: TMC2
Genetically Related Diseases
obesity, systemic lupus erythematosus[1]
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

117532

192140

Ensembl

ENSG00000149488

ENSMUSG00000060332

UniProt

Q8TDI7

Q8R4P4

RefSeq (mRNA)

NM_080751

NM_138655

RefSeq (protein)

NP_542789.2

NP_619596.1

Location (UCSC) Chr 20: 2.54 – 2.64 Mb Chr 2: 130.2 – 130.26 Mb
PubMed search [2] [3]
Wikidata
View/Edit HumanView/Edit Mouse

Transmembrane channel-like protein 2 is a protein that in humans is encoded by the TMC2 gene.[4][5][6]

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.[6]

Clinical significance

Mutations in this gene may underlie hereditary disorders of balance and hearing.[6]

References

  1. "Diseases that are genetically associated with TMC2 view/edit references on wikidata".
  2. "Human PubMed Reference:".
  3. "Mouse PubMed Reference:".
  4. 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.
  5. 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.
  6. 1 2 3 "Entrez Gene: TMC2 transmembrane channel-like 2".

Further reading


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