• Gene id: 117532

Gene Summary

• Gene Symbol: TMC2   Gene   UCSC   Ensembl
• Aliases: C20orf145
• Gene name: transmembrane channel like 2
• Alternate names: transmembrane channel-like protein 2, transmembrane cochlear-expressed gene 2, transmembrane cochlear-expressed protein 2,
• Gene location: 20p13 (2536606: 2641783)     Exons: 20     NC_000020.11
• Gene summary(Entrez): This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]
• OMIM: 608757

Protein Summary

• Protein general information: Q8TDI7  
  • Name: Transmembrane channel like protein 2 (Transmembrane cochlear expressed protein 2)
  • Length: 906  
  • Mass: 102610
  • Tissue specificity: Detected in fetal cochlea.
• Sequence:

  MSHQVKGLKEEARGGVKGRVKSGSPHTGDRLGRRSSSKRALKAEGTPGRRGAQRSQKERAGGSPSPGSPRRKQTG
  RRRHREELGEQERGEAERTCEGRRKRDERASFQERTAAPKREKEIPRREEKSKRQKKPRSSSLASSASGGESLSE
  EELAQILEQVEEKKKLIATMRSKPWPMAKKLTELREAQEFVEKYEGALGKGKGKQLYAYKMLMAKKWVKFKRDFD
  NFKTQCIPWEMKIKDIESHFGSSVASYFIFLRWMYGVNLVLFGLIFGLVIIPEVLMGMPYGSIPRKTVPRAEEEK
  AMDFSVLWDFEGYIKYSALFYGYYNNQRTIGWLRYRLPMAYFMVGVSVFGYSLIIVIRSMASNTQGSTGEGESDN
  FTFSFKMFTSWDYLIGNSETADNKYASITTSFKESIVDEQESNKEENIHLTRFLRVLANFLIICCLCGSGYLIYF
  VVKRSQQFSKMQNVSWYERNEVEIVMSLLGMFCPPLFETIAALENYHPRTGLKWQLGRIFALFLGNLYTFLLALM
  DDVHLKLANEETIKNITHWTLFNYYNSSGWNESVPRPPLHPADVPRGSCWETAVGIEFMRLTVSDMLVTYITILL
  GDFLRACFVRFMNYCWCWDLEAGFPSYAEFDISGNVLGLIFNQGMIWMGSFYAPGLVGINVLRLLTSMYFQCWAV
  MSSNVPHERVFKASRSNNFYMGLLLLVLFLSLLPVAYTIMSLPPSFDCGPFSGKNRMYDVLQETIENDFPTFLGK
  IFAFLANPGLIIPAILLMFLAIYYLNSVSKSLSRANAQLRKKIQVLREVEKSHKSVKGKATARDSEDTPKSSSKN
  ATQLQLTKEETTPPSASQSQAMDKKAQGPGTSNSASRTTLPASGHLPISRPPGIGPDSGHAPSQTHPWRSASGKS
  AQRPPH

• Structural information:
  • Interpro: IPR038900  IPR012496  
  • STRING: ENSP00000351732
• Other Databases: GeneCards:  TMC2  Malacards:  TMC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	IBA	biological process
GO:0008381	mechanosensitive ion channel activity	IBA	molecular function
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0060005	vestibular reflex	IBA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0008381	mechanosensitive ion channel activity	IEA	molecular function
GO:0032426	stereocilium tip	IEA	cellular component
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	IEA	biological process
GO:1903169	regulation of calcium ion transmembrane transport	IEA	biological process
GO:0060005	vestibular reflex	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	IMP	biological process

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray