TMC2

Protein-coding gene in the species Homo sapiens
TMC2
Identifiers
AliasesTMC2, C20orf145, dJ686C3.3, transmembrane channel like 2
External IDsOMIM: 606707; MGI: 2151017; HomoloGene: 25877; GeneCards: TMC2; OMA:TMC2 - orthologs
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for TMC2
Genomic location for TMC2
Band20p13Start2,536,573 bp[1]
End2,643,580 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for TMC2
Genomic location for TMC2
Band2|2 F1Start130,037,114 bp[2]
End130,106,365 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • cerebellar hemisphere

  • anterior pituitary

  • hypothalamus

  • nucleus accumbens

  • ganglionic eminence

  • right lung

  • amygdala

  • caudate nucleus

  • subcutaneous adipose tissue

  • hippocampus proper
Top expressed in
  • ampullary crest

  • morula

  • macula of utricle

  • blastocyst

  • bone

  • cranium

  • neurocranium

  • petrous part of the temporal bone

  • cochlea
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
SpeciesHumanMouse
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 MbChr 2: 130.04 – 130.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ 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:". 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. ^ a b c "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.


  • v
  • t
  • e