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Protein

Transmembrane channel-like protein 2

Gene

TMC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ion channel activity Source: GO_Central
  • mechanosensitive ion channel activity Source: GO_Central
  • voltage-gated calcium channel activity Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel
Biological processIon transport, Transport

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transmembrane channel-like protein 2
Alternative name(s):
Transmembrane cochlear-expressed protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TMC2
Synonyms:C20orf145
ORF Names:UNQ907/PRO1928
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000149488.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16527 TMC2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606707 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TDI7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 263CytoplasmicSequence analysisAdd BLAST263
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000149488

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38158

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMC2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
313104275

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001853821 – 906Transmembrane channel-like protein 2Add BLAST906

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8TDI7

PeptideAtlas

More...
PeptideAtlasi
Q8TDI7

PRoteomics IDEntifications database

More...
PRIDEi
Q8TDI7

ProteomicsDB human proteome resource

More...
ProteomicsDBi
74290
74291 [Q8TDI7-3]
74292 [Q8TDI7-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TDI7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8TDI7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in fetal cochlea.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000149488 Expressed in 61 organ(s), highest expression level in right hemisphere of cerebellum

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8TDI7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA046350

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000351732

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q8TDI7

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi6 – 242Arg/Asp/Glu/Lys-rich (highly charged)Add BLAST237

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TMC family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IF2J Eukaryota
ENOG410XTGF LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153638

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG036209

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8TDI7

KEGG Orthology (KO)

More...
KOi
K21988

Identification of Orthologs from Complete Genome Data

More...
OMAi
TMRSKPW

Database of Orthologous Groups

More...
OrthoDBi
310839at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TDI7

TreeFam database of animal gene trees

More...
TreeFami
TF313462

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR038900 TMC
IPR012496 TMC_dom

The PANTHER Classification System

More...
PANTHERi
PTHR23302 PTHR23302, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07810 TMC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YFP4A0A2R8YFP4_HUMAN
Transmembrane channel-like protein
TMC2
240Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13029.2 [Q8TDI7-1]

NCBI Reference Sequences

More...
RefSeqi
NP_542789.2, NM_080751.2 [Q8TDI7-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.352626

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000358864; ENSP00000351732; ENSG00000149488 [Q8TDI7-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
117532

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:117532

UCSC genome browser

More...
UCSCi
uc002wgf.1 human [Q8TDI7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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

3D structure databases

ProteinModelPortaliQ8TDI7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000351732

PTM databases

iPTMnetiQ8TDI7
PhosphoSitePlusiQ8TDI7

Polymorphism and mutation databases

BioMutaiTMC2
DMDMi313104275

Proteomic databases

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

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
117532
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
117532
EuPathDBiHostDB:ENSG00000149488.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TMC2

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0022417
HGNCiHGNC:16527 TMC2
HPAiHPA046350
MIMi606707 gene
neXtProtiNX_Q8TDI7
OpenTargetsiENSG00000149488
PharmGKBiPA38158

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF2J Eukaryota
ENOG410XTGF LUCA
GeneTreeiENSGT00940000153638
HOVERGENiHBG036209
InParanoidiQ8TDI7
KOiK21988
OMAiTMRSKPW
OrthoDBi310839at2759
PhylomeDBiQ8TDI7
TreeFamiTF313462

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TMC2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TMC2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
117532

Protein Ontology

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PROi
PR:Q8TDI7

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000149488 Expressed in 61 organ(s), highest expression level in right hemisphere of cerebellum
GenevisibleiQ8TDI7 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTMC2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TDI7
Secondary accession number(s): Q5JXT0
, Q5JXT1, Q6UWW4, Q6ZS41, Q8N9F3, Q9BYN2, Q9BYN3, Q9BYN4, Q9BYN5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: November 30, 2010
Last modified: January 16, 2019
This is version 122 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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