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Protein

Transmembrane channel-like protein 2

Gene

TMC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Probable ion channel required for the normal function of cochlear hair cells (PubMed:11850618). Component of the hair cell's mechanotransduction (MET) machinery. Involved in mechanosensitive responses of the hair cells (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIon channel
Biological processIon transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane channel-like protein 2
Alternative name(s):
Transmembrane cochlear-expressed protein 2
Gene namesi
Name:TMC2
Synonyms:C20orf145
ORF Names:UNQ907/PRO1928
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000149488.12
HGNCiHGNC:16527 TMC2
MIMi606707 gene
neXtProtiNX_Q8TDI7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 263CytoplasmicSequence analysisAdd BLAST263
Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
Topological domaini285 – 336ExtracellularSequence analysisAdd BLAST52
Transmembranei337 – 357HelicalSequence analysisAdd BLAST21
Topological domaini358 – 431CytoplasmicSequence analysisAdd BLAST74
Transmembranei432 – 452HelicalSequence analysisAdd BLAST21
Topological domaini453 – 508ExtracellularSequence analysisAdd BLAST56
Transmembranei509 – 529HelicalSequence analysisAdd BLAST21
Topological domaini530 – 693CytoplasmicSequence analysisAdd BLAST164
Transmembranei694 – 714HelicalSequence analysisAdd BLAST21
Topological domaini715 – 750ExtracellularSequence analysisAdd BLAST36
Transmembranei751 – 771HelicalSequence analysisAdd BLAST21
Topological domaini772 – 906CytoplasmicSequence analysisAdd BLAST135

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000149488
PharmGKBiPA38158

Polymorphism and mutation databases

BioMutaiTMC2
DMDMi313104275

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001853821 – 906Transmembrane channel-like protein 2Add BLAST906

Proteomic databases

PaxDbiQ8TDI7
PeptideAtlasiQ8TDI7
PRIDEiQ8TDI7
ProteomicsDBi74290
74291 [Q8TDI7-3]
74292 [Q8TDI7-4]

PTM databases

iPTMnetiQ8TDI7
PhosphoSitePlusiQ8TDI7

Expressioni

Tissue specificityi

Detected in fetal cochlea.

Gene expression databases

BgeeiENSG00000149488
GenevisibleiQ8TDI7 HS

Organism-specific databases

HPAiHPA046350

Interactioni

Subunit structurei

Interacts with TOMT. The interaction of TMC1 and TMC2 with TOMT is required for the transportation of TMC1/2 into the stereocilia of hair cells. Interacts (via N-terminus) with both isoforms CD1 and CD3 of PCDH15.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000351732

Structurei

3D structure databases

ProteinModelPortaliQ8TDI7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi6 – 242Arg/Asp/Glu/Lys-rich (highly charged)Add BLAST237

Sequence similaritiesi

Belongs to the TMC family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF2J Eukaryota
ENOG410XTGF LUCA
GeneTreeiENSGT00760000119171
HOVERGENiHBG036209
InParanoidiQ8TDI7
KOiK21988
OMAiNRMYDVL
OrthoDBiEOG091G00X0
PhylomeDBiQ8TDI7
TreeFamiTF313462

Family and domain databases

InterProiView protein in InterPro
IPR038900 TMC
IPR012496 TMC_dom
PANTHERiPTHR23302 PTHR23302, 1 hit
PfamiView protein in Pfam
PF07810 TMC, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TDI7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSHQVKGLKE EARGGVKGRV KSGSPHTGDR LGRRSSSKRA LKAEGTPGRR
60 70 80 90 100
GAQRSQKERA GGSPSPGSPR RKQTGRRRHR EELGEQERGE AERTCEGRRK
110 120 130 140 150
RDERASFQER TAAPKREKEI PRREEKSKRQ KKPRSSSLAS SASGGESLSE
160 170 180 190 200
EELAQILEQV EEKKKLIATM RSKPWPMAKK LTELREAQEF VEKYEGALGK
210 220 230 240 250
GKGKQLYAYK MLMAKKWVKF KRDFDNFKTQ CIPWEMKIKD IESHFGSSVA
260 270 280 290 300
SYFIFLRWMY GVNLVLFGLI FGLVIIPEVL MGMPYGSIPR KTVPRAEEEK
310 320 330 340 350
AMDFSVLWDF EGYIKYSALF YGYYNNQRTI GWLRYRLPMA YFMVGVSVFG
360 370 380 390 400
YSLIIVIRSM ASNTQGSTGE GESDNFTFSF KMFTSWDYLI GNSETADNKY
410 420 430 440 450
ASITTSFKES IVDEQESNKE ENIHLTRFLR VLANFLIICC LCGSGYLIYF
460 470 480 490 500
VVKRSQQFSK MQNVSWYERN EVEIVMSLLG MFCPPLFETI AALENYHPRT
510 520 530 540 550
GLKWQLGRIF ALFLGNLYTF LLALMDDVHL KLANEETIKN ITHWTLFNYY
560 570 580 590 600
NSSGWNESVP RPPLHPADVP RGSCWETAVG IEFMRLTVSD MLVTYITILL
610 620 630 640 650
GDFLRACFVR FMNYCWCWDL EAGFPSYAEF DISGNVLGLI FNQGMIWMGS
660 670 680 690 700
FYAPGLVGIN VLRLLTSMYF QCWAVMSSNV PHERVFKASR SNNFYMGLLL
710 720 730 740 750
LVLFLSLLPV AYTIMSLPPS FDCGPFSGKN RMYDVLQETI ENDFPTFLGK
760 770 780 790 800
IFAFLANPGL IIPAILLMFL AIYYLNSVSK SLSRANAQLR KKIQVLREVE
810 820 830 840 850
KSHKSVKGKA TARDSEDTPK SSSKNATQLQ LTKEETTPPS ASQSQAMDKK
860 870 880 890 900
AQGPGTSNSA SRTTLPASGH LPISRPPGIG PDSGHAPSQT HPWRSASGKS

AQRPPH
Length:906
Mass (Da):102,610
Last modified:November 30, 2010 - v3
Checksum:i0EB7A3E35C870E2A
GO
Isoform 2 (identifier: Q8TDI7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     625-665: PSYAEFDISG...LVGINVLRLL → VGHHFMDIPH...FGSLMTVSAL
     666-906: Missing.

Note: No experimental confirmation available.
Show »
Length:665
Mass (Da):76,546
Checksum:i5DE3F7119082034A
GO
Isoform 3 (identifier: Q8TDI7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-644: Missing.
     727-806: SGKNRMYDVL...REVEKSHKSV → RCRVSVAREH...QPPVAVECLK
     807-906: Missing.

Note: No experimental confirmation available.
Show »
Length:162
Mass (Da):18,060
Checksum:iE115E756510C839F
GO

Sequence cautioni

The sequence AAQ88976 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC04423 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023360123R → K1 PublicationCorresponds to variant dbSNP:rs6050063Ensembl.1
Natural variantiVAR_057281205Q → R. Corresponds to variant dbSNP:rs11908093Ensembl.1
Natural variantiVAR_057282217W → R. Corresponds to variant dbSNP:rs34884202Ensembl.1
Natural variantiVAR_030621573S → C. Corresponds to variant dbSNP:rs16987592Ensembl.1
Natural variantiVAR_057283589S → C. Corresponds to variant dbSNP:rs16987592Ensembl.1
Natural variantiVAR_030622800E → Q. Corresponds to variant dbSNP:rs768537423Ensembl.1
Natural variantiVAR_057284816E → Q. Corresponds to variant dbSNP:rs6115242Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0152791 – 644Missing in isoform 3. 2 PublicationsAdd BLAST644
Alternative sequenceiVSP_015281625 – 665PSYAE…VLRLL → VGHHFMDIPHKGISTIFFDT YSQMHSWAFHFFGSLMTVSA L in isoform 2. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_015282666 – 906Missing in isoform 2. 1 PublicationAdd BLAST241
Alternative sequenceiVSP_015283727 – 806SGKNR…SHKSV → RCRVSVAREHLPSRGSLLRG PRPRIPVLVSCQPVKGHGTL GESPMPFKRVFCQDGNVRSF CVCAVHFSSHQPPVAVECLK in isoform 3. 2 PublicationsAdd BLAST80
Alternative sequenceiVSP_015284807 – 906Missing in isoform 3. 2 PublicationsAdd BLAST100

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF417580 mRNA Translation: AAL86401.2
AK094789 mRNA Translation: BAC04423.1 Different initiation.
AK127751 mRNA No translation available.
AL049712 Genomic DNA No translation available.
AY358613 mRNA Translation: AAQ88976.1 Different initiation.
CCDSiCCDS13029.2 [Q8TDI7-1]
RefSeqiNP_542789.2, NM_080751.2 [Q8TDI7-1]
UniGeneiHs.352626

Genome annotation databases

EnsembliENST00000358864; ENSP00000351732; ENSG00000149488 [Q8TDI7-1]
GeneIDi117532
KEGGihsa:117532
UCSCiuc002wgf.1 human [Q8TDI7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTMC2_HUMAN
AccessioniPrimary (citable) accession number: Q8TDI7
Secondary accession number(s): Q5JXT0
, Q5JXT1, Q6UWW4, Q6ZS41, Q8N9F3, Q9BYN2, Q9BYN3, Q9BYN4, Q9BYN5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: November 30, 2010
Last modified: July 18, 2018
This is version 118 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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