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Protein

Tetraspanin-12

Gene

TSPAN12

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

Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1) (By similarity). Acts as a regulator of membrane proteinases such as ADAM10 and MMP14/MT1-MMP. Activates ADAM10-dependent cleavage activity of amyloid precursor protein (APP). Activates MMP14/MT1-MMP-dependent cleavage activity.By similarity2 Publications

<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 - 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

Biological processAngiogenesis

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

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SIGNORi
O95859

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.40.1.20 the tetraspanin (tetraspanin) 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_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:
Tetraspanin-12
Short name:
Tspan-12
Alternative name(s):
Tetraspan NET-2
Transmembrane 4 superfamily member 12
<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:TSPAN12
Synonyms:NET2, TM4SF12
ORF Names:UNQ774/PRO1568
<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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000106025.8

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21641 TSPAN12

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613138 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95859

<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 – 12CytoplasmicSequence analysisAdd BLAST12
<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>Transmembranei13 – 33HelicalSequence analysisAdd BLAST21
Topological domaini34 – 59ExtracellularSequence analysisAdd BLAST26
Transmembranei60 – 80HelicalSequence analysisAdd BLAST21
Topological domaini81 – 89CytoplasmicSequence analysis9
Transmembranei90 – 110HelicalSequence analysisAdd BLAST21
Topological domaini111 – 224ExtracellularSequence analysisAdd BLAST114
Transmembranei225 – 245HelicalSequence analysisAdd BLAST21
Topological domaini246 – 305CytoplasmicSequence analysisAdd BLAST60

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

<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

Vitreoretinopathy, exudative 5 (EVR5)3 Publications
The disease is caused by mutations affecting the gene represented in this entry. TSPAN12 dominant and recessive mutations have been identified in patients with exudative vitreoretinopathy. Patients with mutations in both alleles of TSPAN12 have severe exudative vitreoretinopathy or retinal dysplasia. These mutations appear to result in a milder phenotype in heterozygous mutation carriers (PubMed:22427576).1 Publication
Disease descriptionA disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.
See also OMIM:613310
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_06889949T → M in EVR5. 1 PublicationCorresponds to variant dbSNP:rs538591733EnsemblClinVar.1
Natural variantiVAR_063576101L → H in EVR5. 1 PublicationCorresponds to variant dbSNP:rs267607152EnsemblClinVar.1
Natural variantiVAR_068900138Y → C in EVR5. 1 PublicationCorresponds to variant dbSNP:rs587777283EnsemblClinVar.1
Natural variantiVAR_063577188G → R in EVR5. 1 PublicationCorresponds to variant dbSNP:rs267607151EnsemblClinVar.1
Natural variantiVAR_063578210M → R in EVR5. 1 Publication1
Natural variantiVAR_068901223L → P in EVR5. 1 Publication1
Natural variantiVAR_063579237A → P in EVR5. 1 PublicationCorresponds to variant dbSNP:rs267607154EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi9C → S: Impairs interaction with ADAM10; when associated with S-12 and S-83. 1 Publication1
Mutagenesisi12C → S: Impairs interaction with ADAM10; when associated with S-9 and S-83. 1 Publication1
Mutagenesisi83C → S: Impairs interaction with ADAM10; when associated with S-9 and S-12. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
23554

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
TSPAN12

MalaCards human disease database

More...
MalaCardsi
TSPAN12
MIMi613310 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000106025

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

More...
Orphaneti
891 Familial exudative vitreoretinopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134954047

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TSPAN12

<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_00002192571 – 305Tetraspanin-12Add BLAST305

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi9S-palmitoyl cysteineBy similarity1
Lipidationi12S-palmitoyl cysteineBy similarity1
Lipidationi83S-palmitoyl cysteineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Palmitoylated; required for interaction with ADAM10. The precise position of palmitoylated residues is unclear and occurs either on Cys-9, Cys-12 and/or Cys-83.1 Publication

Keywords - PTMi

Lipoprotein, Palmitate

Proteomic databases

MaxQB - The MaxQuant DataBase

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MaxQBi
O95859

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

More...
PaxDbi
O95859

PRoteomics IDEntifications database

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PRIDEi
O95859

ProteomicsDB human proteome resource

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ProteomicsDBi
51092
51093 [O95859-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O95859

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

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PhosphoSitePlusi
O95859

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O95859

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000106025 Expressed in 209 organ(s), highest expression level in right adrenal gland

CleanEx database of gene expression profiles

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CleanExi
HS_TSPAN12

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O95859 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95859 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051570
HPA058244

<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

Component of a complex, at least composed of TSPAN12, FZD4 and norrin (NDP) (By similarity). Interacts (when palmitoylated) with ADAM10. Interacts with MMP14/MT1-MMP.By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
TFCP2Q128003EBI-2466403,EBI-717422

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117098, 1 interactor

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O95859

Protein interaction database and analysis system

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IntActi
O95859, 21 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000222747

<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

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ProteinModelPortali
O95859

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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

<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 tetraspanin (TM4SF) family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3882 Eukaryota
ENOG4111IRY LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00510000047764

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000252919

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG054253

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95859

KEGG Orthology (KO)

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KOi
K17355

Identification of Orthologs from Complete Genome Data

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OMAi
TQHLSCH

Database of Orthologous Groups

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OrthoDBi
993640at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O95859

TreeFam database of animal gene trees

More...
TreeFami
TF316345

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.1450.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000301 Tetraspanin
IPR018499 Tetraspanin/Peripherin
IPR018503 Tetraspanin_CS
IPR008952 Tetraspanin_EC2_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00335 Tetraspanin, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF002419 Tetraspanin, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00259 TMFOUR

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48652 SSF48652, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00421 TM4_1, 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 (2+)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 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.<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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O95859-1) [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
MAREDSVKCL RCLLYALNLL FWLMSISVLA VSAWMRDYLN NVLTLTAETR
60 70 80 90 100
VEEAVILTYF PVVHPVMIAV CCFLIIVGML GYCGTVKRNL LLLAWYFGSL
110 120 130 140 150
LVIFCVELAC GVWTYEQELM VPVQWSDMVT LKARMTNYGL PRYRWLTHAW
160 170 180 190 200
NFFQREFKCC GVVYFTDWLE MTEMDWPPDS CCVREFPGCS KQAHQEDLSD
210 220 230 240 250
LYQEGCGKKM YSFLRGTKQL QVLRFLGISI GVTQILAMIL TITLLWALYY
260 270 280 290 300
DRREPGTDQM MSLKNDNSQH LSCPSVELLK PSLSRIFEHT SMANSFNTHF

EMEEL
Length:305
Mass (Da):35,383
Last modified:May 1, 1999 - 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:iEBF4D5E1371E92DC
GO
Isoform 2 (identifier: O95859-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-120: MAREDSVKCL...GVWTYEQELM → MAHKLLL

Note: No experimental confirmation available.
Show »
Length:192
Mass (Da):22,511
Checksum:iE789CE4F377F3F17
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 are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J9U1C9J9U1_HUMAN
Tetraspanin-12
TSPAN12
147Annotation 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>
C9JC05C9JC05_HUMAN
Tetraspanin-12
TSPAN12
112Annotation 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>
C9IZ82C9IZ82_HUMAN
Tetraspanin-12
TSPAN12
120Annotation 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>
C9JQM0C9JQM0_HUMAN
Tetraspanin-12
TSPAN12
95Annotation 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>
H7C0X9H7C0X9_HUMAN
Tetraspanin-12
TSPAN12
42Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06889949T → M in EVR5. 1 PublicationCorresponds to variant dbSNP:rs538591733EnsemblClinVar.1
Natural variantiVAR_06225357L → S1 PublicationCorresponds to variant dbSNP:rs17852934Ensembl.1
Natural variantiVAR_063576101L → H in EVR5. 1 PublicationCorresponds to variant dbSNP:rs267607152EnsemblClinVar.1
Natural variantiVAR_068900138Y → C in EVR5. 1 PublicationCorresponds to variant dbSNP:rs587777283EnsemblClinVar.1
Natural variantiVAR_063577188G → R in EVR5. 1 PublicationCorresponds to variant dbSNP:rs267607151EnsemblClinVar.1
Natural variantiVAR_063578210M → R in EVR5. 1 Publication1
Natural variantiVAR_068901223L → P in EVR5. 1 Publication1
Natural variantiVAR_063579237A → P in EVR5. 1 PublicationCorresponds to variant dbSNP:rs267607154EnsemblClinVar.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_0385251 – 120MARED…EQELM → MAHKLLL in isoform 2. 1 PublicationAdd BLAST120

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF124522 mRNA Translation: AAD17317.1
AY358703 mRNA Translation: AAQ89066.1
AK299247 mRNA Translation: BAG61278.1
AK312239 mRNA Translation: BAG35172.1
AC004456 Genomic DNA Translation: AAQ96879.1
CH236947 Genomic DNA Translation: EAL24349.1
BC031265 mRNA Translation: AAH31265.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS5777.1 [O95859-1]

NCBI Reference Sequences

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RefSeqi
NP_036470.1, NM_012338.3 [O95859-1]
XP_005250296.1, XM_005250239.2 [O95859-1]
XP_011514295.1, XM_011515993.1 [O95859-1]
XP_011514296.1, XM_011515994.1 [O95859-1]
XP_016867401.1, XM_017011912.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.16529

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000222747; ENSP00000222747; ENSG00000106025 [O95859-1]
ENST00000415871; ENSP00000397699; ENSG00000106025 [O95859-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23554

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23554

UCSC genome browser

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UCSCi
uc003vjk.4 human [O95859-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF124522 mRNA Translation: AAD17317.1
AY358703 mRNA Translation: AAQ89066.1
AK299247 mRNA Translation: BAG61278.1
AK312239 mRNA Translation: BAG35172.1
AC004456 Genomic DNA Translation: AAQ96879.1
CH236947 Genomic DNA Translation: EAL24349.1
BC031265 mRNA Translation: AAH31265.1
CCDSiCCDS5777.1 [O95859-1]
RefSeqiNP_036470.1, NM_012338.3 [O95859-1]
XP_005250296.1, XM_005250239.2 [O95859-1]
XP_011514295.1, XM_011515993.1 [O95859-1]
XP_011514296.1, XM_011515994.1 [O95859-1]
XP_016867401.1, XM_017011912.1
UniGeneiHs.16529

3D structure databases

ProteinModelPortaliO95859
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117098, 1 interactor
CORUMiO95859
IntActiO95859, 21 interactors
STRINGi9606.ENSP00000222747

Protein family/group databases

TCDBi8.A.40.1.20 the tetraspanin (tetraspanin) family

PTM databases

iPTMnetiO95859
PhosphoSitePlusiO95859
SwissPalmiO95859

Polymorphism and mutation databases

BioMutaiTSPAN12

Proteomic databases

MaxQBiO95859
PaxDbiO95859
PRIDEiO95859
ProteomicsDBi51092
51093 [O95859-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
23554
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000222747; ENSP00000222747; ENSG00000106025 [O95859-1]
ENST00000415871; ENSP00000397699; ENSG00000106025 [O95859-1]
GeneIDi23554
KEGGihsa:23554
UCSCiuc003vjk.4 human [O95859-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23554
DisGeNETi23554
EuPathDBiHostDB:ENSG00000106025.8

GeneCards: human genes, protein and diseases

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GeneCardsi
TSPAN12
GeneReviewsiTSPAN12
HGNCiHGNC:21641 TSPAN12
HPAiHPA051570
HPA058244
MalaCardsiTSPAN12
MIMi613138 gene
613310 phenotype
neXtProtiNX_O95859
OpenTargetsiENSG00000106025
Orphaneti891 Familial exudative vitreoretinopathy
PharmGKBiPA134954047

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3882 Eukaryota
ENOG4111IRY LUCA
GeneTreeiENSGT00510000047764
HOGENOMiHOG000252919
HOVERGENiHBG054253
InParanoidiO95859
KOiK17355
OMAiTQHLSCH
OrthoDBi993640at2759
PhylomeDBiO95859
TreeFamiTF316345

Enzyme and pathway databases

SIGNORiO95859

Miscellaneous databases

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

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ChiTaRSi
TSPAN12 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TSPAN12

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

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GenomeRNAii
23554

Protein Ontology

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PROi
PR:O95859

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000106025 Expressed in 209 organ(s), highest expression level in right adrenal gland
CleanExiHS_TSPAN12
ExpressionAtlasiO95859 baseline and differential
GenevisibleiO95859 HS

Family and domain databases

Gene3Di1.10.1450.10, 1 hit
InterProiView protein in InterPro
IPR000301 Tetraspanin
IPR018499 Tetraspanin/Peripherin
IPR018503 Tetraspanin_CS
IPR008952 Tetraspanin_EC2_sf
PfamiView protein in Pfam
PF00335 Tetraspanin, 1 hit
PIRSFiPIRSF002419 Tetraspanin, 1 hit
PRINTSiPR00259 TMFOUR
SUPFAMiSSF48652 SSF48652, 1 hit
PROSITEiView protein in PROSITE
PS00421 TM4_1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiTSN12_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: O95859
Secondary accession number(s): A4D0V8
, B4DRG6, Q549U9, Q8N5Y0
<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: December 1, 2000
Last sequence update: May 1, 1999
Last modified: January 16, 2019
This is version 140 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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