TMC2 (transmembrane channel like 2)

Gene

• Entrez ID: 117532
• Gene name: Transmembrane channel like 2
• Gene symbol: TMC2
• Synonyms (NCBI Gene): C20orf145
• Chromosome: 20
• Chromosome location: 20p13
• Summary: 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1428005	hsa-miR-185	CLIP-seq
MIRT1428006	hsa-miR-3125	CLIP-seq
MIRT1428007	hsa-miR-3175	CLIP-seq
MIRT1428008	hsa-miR-3916	CLIP-seq
MIRT1428009	hsa-miR-3925-5p	CLIP-seq
MIRT1428010	hsa-miR-4306	CLIP-seq
MIRT1428011	hsa-miR-4644	CLIP-seq
MIRT1428012	hsa-miR-583	CLIP-seq
MIRT1428013	hsa-miR-589	CLIP-seq
MIRT2643361	hsa-miR-3150b-3p	CLIP-seq
MIRT2643362	hsa-miR-4784	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IBA
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	IBA
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	IEA
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0032426	Component	Stereocilium tip	IEA
GO:0032437	Component	Cuticular plate	IEA
GO:0032437	Component	Cuticular plate	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IBA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IEA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IMP	11850618
GO:0060005	Process	Vestibular reflex	IBA
GO:0060005	Process	Vestibular reflex	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:1903169	Process	Regulation of calcium ion transmembrane transport	IEA

Other IDs

• MIM: 606707
• HGNC: 16527
• e!Ensembl: ENSG00000149488

Protein

• UniProt ID: Q8TDI7
• Protein name: Transmembrane channel-like protein 2 (Transmembrane cochlear-expressed protein 2)
• Protein function: Pore-forming subunit of the mechanotransducer (MET) non-selective cation channel complex located at the tips of stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system (PubMed:11850618). The MET complex i
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07810	TMC	574 → 689	TMC domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in fetal cochlea.
• Sequence:

  MSHQVKGLKEEARGGVKGRVKSGSPHTGDRLGRRSSSKRALKAEGTPGRRGAQRSQKERA
  GGSPSPGSPRRKQTGRRRHREELGEQERGEAERTCEGRRKRDERASFQERTAAPKREKEI
  PRREEKSKRQKKPRSSSLASSASGGESLSEEELAQILEQVEEKKKLIATMRSKPWPMAKK
  LTELREAQEFVEKYEGALGKGKGKQLYAYKMLMAKKWVKFKRDFDNFKTQCIPWEMKIKD
  IESHFGSSVASYFIFLRWMYGVNLVLFGLIFGLVIIPEVLMGMPYGSIPRKTVPRAEEEK
  AMDFSVLWDFEGYIKYSALFYGYYNNQRTIGWLRYRLPMAYFMVGVSVFGYSLIIVIRSM
  ASNTQGSTGEGESDNFTFSFKMFTSWDYLIGNSETADNKYASITTSFKESIVDEQESNKE
  ENIHLTRFLRVLANFLIICCLCGSGYLIYFVVKRSQQFSKMQNVSWYERNEVEIVMSLLG
  MFCPPLFETIAALENYHPRTGLKWQLGRIFALFLGNLYTFLLALMDDVHLKLANEETIKN
  ITHWTLFNYYNSSGWNESVPRPPLHPADVPRGSCWETAVGIEFMRLTVSDMLVTYITILL
  GDFLRACFVRFMNYCWCWDLEAGFPSYAEFDISGNVLGLIFNQGMIWMGSFYAPGLVGIN
  VLRLLTSMYFQCWAVMSSNVPHERVFKASRSNNFYMGLLLLVLFLSLLPVAYTIMSLPPS
  FDCGPFSGKNRMYDVLQETIENDFPTFLGKIFAFLANPGLIIPAILLMFLAIYYLNSVSK
  SLSRANAQLRKKIQVLREVEKSHKSVKGKATARDSEDTPKSSSKNATQLQLTKEETTPPS
  ASQSQAMDKKAQGPGTSNSASRTTLPASGHLPISRPPGIGPDSGHAPSQTHPWRSASGKS
  AQRPPH

• Sequence length: 906

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
APPENDICITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Arthritis Experimental	Inhibit	12519388	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Inhibit	12519388	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	37468683	★☆☆☆☆ Found in Text Mining only
Edema	Inhibit	12519388	★☆☆☆☆ Found in Text Mining only