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UniProtKB - Q8IU68 (TMC8_HUMAN)

Entry version 137 (07 Apr 2021)
Sequence version 1 (01 Mar 2003)
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Protein

Transmembrane channel-like protein 8

Gene

TMC8

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 protein 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.By similarity

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8IU68

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.17.4.11, the calcium-dependent chloride channel (ca-clc) family

<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%5Fand%5Ftaxonomy%5Fsection">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 8
Alternative name(s):
Epidermodysplasia verruciformis protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:TMC8
Synonyms:EVER2, EVIN2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:20474, TMC8

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605829, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8IU68

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000167895.14

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 – 114CytoplasmicSequence analysisAdd BLAST114
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei115 – 135HelicalSequence analysisAdd BLAST21
Topological domaini136 – 200LumenalSequence analysisAdd BLAST65
Transmembranei201 – 221HelicalSequence analysisAdd BLAST21
Topological domaini222 – 299CytoplasmicSequence analysisAdd BLAST78
Transmembranei300 – 320HelicalSequence analysisAdd BLAST21
Topological domaini321 – 338LumenalSequence analysisAdd BLAST18
Transmembranei339 – 359HelicalSequence analysisAdd BLAST21
Topological domaini360 – 426CytoplasmicSequence analysisAdd BLAST67
Transmembranei427 – 447HelicalSequence analysisAdd BLAST21
Topological domaini448 – 488LumenalSequence analysisAdd BLAST41
Transmembranei489 – 509HelicalSequence analysisAdd BLAST21
Topological domaini510 – 531CytoplasmicSequence analysisAdd BLAST22
Transmembranei532 – 552HelicalSequence analysisAdd BLAST21
Topological domaini553 – 594LumenalSequence analysisAdd BLAST42
Transmembranei595 – 615HelicalSequence analysisAdd BLAST21
Topological domaini616 – 726CytoplasmicSequence analysisAdd BLAST111

Keywords - Cellular componenti

Endoplasmic reticulum, 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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epidermodysplasia verruciformis 2 (EV2)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV2 inheritance is autosomal recessive.
Related information in OMIM
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_081777362 – 726Missing in EV2. 1 PublicationAdd BLAST365

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		147138

MalaCards human disease database

More...MalaCardsi		TMC8
MIMi618231, phenotype

Open Targets

More...OpenTargetsi		ENSG00000167895

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		302, Epidermodysplasia verruciformis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134892288

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8IU68, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TMC8

Domain mapping of disease mutations (DMDM)

More...DMDMi		74714272

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001853861 – 726Transmembrane channel-like protein 8Add BLAST726

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei6PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi148N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi567N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei658PhosphoserineCombined sources1
Modified residuei673PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8IU68

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8IU68

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

More...PaxDbi		Q8IU68

PeptideAtlas

More...PeptideAtlasi		Q8IU68

PRoteomics IDEntifications database

More...PRIDEi		Q8IU68

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		70513 [Q8IU68-1]
70514 [Q8IU68-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8IU68, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8IU68

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

More...PhosphoSitePlusi		Q8IU68

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q8IU68

<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

Expressed in placenta, prostate and testis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000167895, Expressed in granulocyte and 178 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8IU68, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8IU68, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000167895, Tissue enhanced (bone marrow, intestine, lymphoid tissue)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CIB1.

1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		127037, 5 interactors

Protein interaction database and analysis system

More...IntActi		Q8IU68, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000325561

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8IU68, protein

<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

<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		ENOG502RKT7, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00980000198578

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_013958_3_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8IU68

Identification of Orthologs from Complete Genome Data

More...OMAi		TNTYLFY

Database of Orthologous Groups

More...OrthoDBi		1048914at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8IU68

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IU68-1) [UniParc]FASTAAdd to basket
Also known as: Large EVER2

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MLLPRSVSSE RAPGVPEPEE LWEAEMERLR GSGTPVRGLP YAMMDKRLIW 
        60         70         80         90        100
QLREPAGVQT LRWQRWQRRR QTVERRLREA AQRLARGLGL WEGALYEIGG 
       110        120        130        140        150
LFGTGIRSYF TFLRFLLLLN LLSLLLTASF VLLPLVWLRP PDPGPTLNLT 
       160        170        180        190        200
LQCPGSRQSP PGVLRFHNQL WHVLTGRAFT NTYLFYGAYR VGPESSSVYS 
       210        220        230        240        250
IRLAYLLSPL ACLLLCFCGT LRRMVKGLPQ KTLLGQGYQA PLSAKVFSSW 
       260        270        280        290        300
DFCIRVQEAA TIKKHEISNE FKVELEEGRR FQLMQQQTRA QTACRLLSYL 
       310        320        330        340        350
RVNVLNGLLV VGAISAIFWA TKYSQDNKEE SLFLLLQYLP PGVIALVNFL 
       360        370        380        390        400
GPLLFTFLVQ LENYPPNTEV NLTLIWCVVL KLASLGMFSV SLGQTILCIG 
       410        420        430        440        450
RDKSSCESYG YNVCDYQCWE NSVGEELYKL SIFNFLLTVA FAFLVTLPRR 
       460        470        480        490        500
LLVDRFSGRF WAWLEREEFL VPKNVLDIVA GQTVTWMGLF YCPLLPLLNS 
       510        520        530        540        550
VFLFLTFYIK KYTLLKNSRA SSRPFRASSS TFFFQLVLLL GLLLAAVPLG 
       560        570        580        590        600
YVVSSIHSSW DCGLFTNYSA PWQVVPELVA LGLPPIGQRA LHYLGSHAFS 
       610        620        630        640        650
FPLLIMLSLV LTVCVSQTQA NARAIHRLRK QLVWQVQEKW HLVEDLSRLL 
       660        670        680        690        700
PEPGPSDSPG PKYPASQASR PQSFCPGCPC PGSPGHQAPR PGPSVVDAAG 
       710        720 
LRSPCPGQHG APASARRFRF PSGAEL
Length:726
Mass (Da):81,641
Last modified:March 1, 2003 - v1
<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:iAA3F4A01A6C315EF
GO
Isoform 2 (identifier: Q8IU68-2) [UniParc]FASTAAdd to basket
Also known as: Small EVER2

The sequence of this isoform differs from the canonical sequence as follows:
     1-223: Missing.

Show »
Length:503
Mass (Da):56,132
Checksum:i9466295B76B989E7
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
K7EJ72K7EJ72_HUMAN
Transmembrane channel-like protein ...
TMC8
196Annotation score:

Annotation score:1 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 BAC03459 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BC028076 differs from that shown. Unlikely isoform. Aberrant splice sites.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti5R → W in BAC03459 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023964306N → I2 PublicationsCorresponds to variant dbSNP:rs7208422EnsemblClinVar.1
Natural variantiVAR_081777362 – 726Missing in EV2. 1 PublicationAdd BLAST365
Natural variantiVAR_052337501V → I. Corresponds to variant dbSNP:rs11651675EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0164481 – 223Missing in isoform 2. 1 PublicationAdd BLAST223

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
AY057380 mRNA Translation: AAL25837.1
AY099358 mRNA Translation: AAM44454.1
AY099359 mRNA Translation: AAM44455.1
AY236500 mRNA Translation: AAP69878.1
AK090478 mRNA Translation: BAC03459.1 Different initiation.
AC021593 Genomic DNA No translation available.
BC028076 mRNA No translation available.
BC110296 mRNA Translation: AAI10297.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32749.1 [Q8IU68-1]

NCBI Reference Sequences

More...RefSeqi		NP_689681.2, NM_152468.4 [Q8IU68-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000318430; ENSP00000325561; ENSG00000167895 [Q8IU68-1]
ENST00000589691; ENSP00000467482; ENSG00000167895 [Q8IU68-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		147138

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:147138

UCSC genome browser

More...UCSCi		uc002jup.3, human [Q8IU68-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

TMC8base

TMC8 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY057380 mRNA Translation: AAL25837.1
AY099358 mRNA Translation: AAM44454.1
AY099359 mRNA Translation: AAM44455.1
AY236500 mRNA Translation: AAP69878.1
AK090478 mRNA Translation: BAC03459.1 Different initiation.
AC021593 Genomic DNA No translation available.
BC028076 mRNA No translation available.
BC110296 mRNA Translation: AAI10297.1
CCDSiCCDS32749.1 [Q8IU68-1]
RefSeqiNP_689681.2, NM_152468.4 [Q8IU68-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi127037, 5 interactors
IntActiQ8IU68, 1 interactor
STRINGi9606.ENSP00000325561

Protein family/group databases

TCDBi1.A.17.4.11, the calcium-dependent chloride channel (ca-clc) family

PTM databases

GlyGeniQ8IU68, 2 sites
iPTMnetiQ8IU68
PhosphoSitePlusiQ8IU68
SwissPalmiQ8IU68

Genetic variation databases

BioMutaiTMC8
DMDMi74714272

Proteomic databases

jPOSTiQ8IU68
MassIVEiQ8IU68
PaxDbiQ8IU68
PeptideAtlasiQ8IU68
PRIDEiQ8IU68
ProteomicsDBi70513 [Q8IU68-1]
70514 [Q8IU68-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		32534, 196 antibodies

Genome annotation databases

EnsembliENST00000318430; ENSP00000325561; ENSG00000167895 [Q8IU68-1]
ENST00000589691; ENSP00000467482; ENSG00000167895 [Q8IU68-2]
GeneIDi147138
KEGGihsa:147138
UCSCiuc002jup.3, human [Q8IU68-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		147138
DisGeNETi147138

GeneCards: human genes, protein and diseases

More...GeneCardsi		TMC8
HGNCiHGNC:20474, TMC8
HPAiENSG00000167895, Tissue enhanced (bone marrow, intestine, lymphoid tissue)
MalaCardsiTMC8
MIMi605829, gene
618231, phenotype
neXtProtiNX_Q8IU68
OpenTargetsiENSG00000167895
Orphaneti302, Epidermodysplasia verruciformis
PharmGKBiPA134892288
VEuPathDBiHostDB:ENSG00000167895.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502RKT7, Eukaryota
GeneTreeiENSGT00980000198578
HOGENOMiCLU_013958_3_1_1
InParanoidiQ8IU68
OMAiTNTYLFY
OrthoDBi1048914at2759
PhylomeDBiQ8IU68
TreeFamiTF313462

Enzyme and pathway databases

PathwayCommonsiQ8IU68

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		147138, 7 hits in 990 CRISPR screens

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

More...ChiTaRSi		TMC8, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TMC8

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

More...GenomeRNAii		147138
PharosiQ8IU68, Tbio

Protein Ontology

More...PROi		PR:Q8IU68
RNActiQ8IU68, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000167895, Expressed in granulocyte and 178 other tissues
ExpressionAtlasiQ8IU68, baseline and differential
GenevisibleiQ8IU68, 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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 nameiTMC8_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: Q8IU68
Secondary accession number(s): Q2YDC0
, Q8IWU7, Q8N358, Q8NF04
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: March 1, 2003
Last modified: April 7, 2021
This is version 137 of the entry and version 1 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

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
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