TMC2

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TMC2
Identifiers
Aliases TMC2, C20orf145, dJ686C3.3, transmembrane channel like 2
External IDs MGI: 2151017 HomoloGene: 25877 GeneCards: TMC2
Gene location (Human)
Chromosome 20 (human)
Chr. Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for TMC2
Genomic location for TMC2
Band 20p13 Start 2,536,607 bp[1]
End 2,641,784 bp[1]
RNA expression pattern
PBB GE TMC2 gnf1h05895 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_080751

NM_138655

RefSeq (protein)

NP_542789

NP_619596

Location (UCSC) Chr 20: 2.54 – 2.64 Mb Chr 2: 130.2 – 130.26 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[edit]

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[edit]

Mutations in this gene may underlie hereditary disorders of balance and hearing.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000149488 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000060332 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. 
  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. ^ a b c "Entrez Gene: TMC2 transmembrane channel-like 2". 

Further reading[edit]