TMC2
Transmembrane channel-like protein 2
Also known as: C20orf145, dJ686C3.3, TMC2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TDI7
- Gene
- TMC2
- Ensembl
- ENSG00000149488
- Chromosome
- 20
- Canonical length
- 906 aa
- Protein class
- Predicted membrane proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
906 residues, UniProt reviewed canonical sequence.
>Q8TDI7|TMC2
1 MSHQVKGLKE EARGGVKGRV KSGSPHTGDR LGRRSSSKRA LKAEGTPGRR GAQRSQKERA
61 GGSPSPGSPR RKQTGRRRHR EELGEQERGE AERTCEGRRK RDERASFQER TAAPKREKEI
121 PRREEKSKRQ KKPRSSSLAS SASGGESLSE EELAQILEQV EEKKKLIATM RSKPWPMAKK
181 LTELREAQEF VEKYEGALGK GKGKQLYAYK MLMAKKWVKF KRDFDNFKTQ CIPWEMKIKD
241 IESHFGSSVA SYFIFLRWMY GVNLVLFGLI FGLVIIPEVL MGMPYGSIPR KTVPRAEEEK
301 AMDFSVLWDF EGYIKYSALF YGYYNNQRTI GWLRYRLPMA YFMVGVSVFG YSLIIVIRSM
361 ASNTQGSTGE GESDNFTFSF KMFTSWDYLI GNSETADNKY ASITTSFKES IVDEQESNKE
421 ENIHLTRFLR VLANFLIICC LCGSGYLIYF VVKRSQQFSK MQNVSWYERN EVEIVMSLLG
481 MFCPPLFETI AALENYHPRT GLKWQLGRIF ALFLGNLYTF LLALMDDVHL KLANEETIKN
541 ITHWTLFNYY NSSGWNESVP RPPLHPADVP RGSCWETAVG IEFMRLTVSD MLVTYITILL
601 GDFLRACFVR FMNYCWCWDL EAGFPSYAEF DISGNVLGLI FNQGMIWMGS FYAPGLVGIN
661 VLRLLTSMYF QCWAVMSSNV PHERVFKASR SNNFYMGLLL LVLFLSLLPV AYTIMSLPPS
721 FDCGPFSGKN RMYDVLQETI ENDFPTFLGK IFAFLANPGL IIPAILLMFL AIYYLNSVSK
781 SLSRANAQLR KKIQVLREVE KSHKSVKGKA TARDSEDTPK SSSKNATQLQ LTKEETTPPS
841 ASQSQAMDKK AQGPGTSNSA SRTTLPASGH LPISRPPGIG PDSGHAPSQT HPWRSASGKS
901 AQRPPHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TMC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.41
- Highest tissue expression
- 2.7 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 2.7 nTPM
- adipose tissue: 1.7 nTPM
- breast: 1.4 nTPM
- lung: 1.3 nTPM
- pituitary gland: 1.3 nTPM
- urinary bladder: 0.8 nTPM
Single-cell type
- somatotrophs: 320 nCPM
- late spermatids: 48 nCPM
- oligodendrocyte progenitor cells: 37 nCPM
- thyrotrophs: 35 nCPM
- adrenal medulla cells: 32 nCPM
- brain excitatory neurons: 27 nCPM
Immune cell
- gdT-cell: 0.2 nTPM
- basophil: 0.1 nTPM
- NK-cell: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- cerebellum: 3.6 nTPM
- hypothalamus: 2.3 nTPM
- white matter: 2.1 nTPM
- basal ganglia: 2 nTPM
- cerebral cortex: 1.9 nTPM
- hippocampal formation: 1.9 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.15
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.23
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- detection of mechanical stimulus involved in sensory perception of sound
- regulation of calcium ion transmembrane transport
- vestibular reflex
Molecular functions
- calcium channel activity
- mechanosensitive monoatomic ion channel activity
- voltage-gated calcium channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TMC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TMC2 as an antibody target. Whether an autoantibody or antibody against TMC2 could matter depends on whether native TMC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TMC2 is annotated at the cell surface, where native TMC2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label TMC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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