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Entry version 128 (31 Jul 2019)
Sequence version 1 (01 Oct 2003)
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Protein

Proline-rich transmembrane protein 2

Gene

PRRT2

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

As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca2+-sensing. In the cerebellum, may inhibit SNARE complex formation and downregulate short-term facilitation.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

GO - Biological processi

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q7Z6L0

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.58.2.1 the dispanin (dispanin) 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:
Proline-rich transmembrane protein 2
Alternative name(s):
Dispanin subfamily B member 3
Short name:
DSPB3
<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:PRRT2
<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 16

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:30500 PRRT2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
614386 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q7Z6L0

<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 & Seán O’Donoghue; 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 – 268CytoplasmicSequence analysisBy similarityAdd BLAST268
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei269 – 289HelicalSequence analysisBy similarityAdd BLAST21
Topological domaini290 – 317CytoplasmicSequence analysisBy similarityAdd BLAST28
<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>Transmembranei318 – 338HelicalSequence analysisBy similarityAdd BLAST21
Topological domaini339 – 340ExtracellularSequence analysisBy similarity2

<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>Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasmic vesicle, Membrane, Postsynaptic cell membrane, Synapse

<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

Episodic kinesigenic dyskinesia 1 (EKD1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations that produce truncation of the C-terminus of the protein alter subcellular location, from plasma membrane to cytoplasm (PubMed:22101681).1 Publication
Disease descriptionAn autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis.
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_067322266R → W in EKD1. 1 PublicationCorresponds to variant dbSNP:rs387907128EnsemblClinVar.1
Natural variantiVAR_067323281W → R in EKD1. 1 Publication1
Natural variantiVAR_067324287A → T in EKD1; may affect subcellular location, becoming predominantly cytoplasmic; impairs interaction with GRIA1 and SNAP25. 2 Publications1
Natural variantiVAR_067325305G → R in EKD1. 1 PublicationCorresponds to variant dbSNP:rs767799831EnsemblClinVar.1
Natural variantiVAR_067326308R → C in EKD1; no effect on location at the plasma membrane. 2 PublicationsCorresponds to variant dbSNP:rs932713001EnsemblClinVar.1
Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080269240 – 340Missing in ICCA; may be produced at very low levels due to a premature stop codon in the mRNA, that could lead to nonsense-mediated mRNA decay. 1 PublicationCorresponds to variant dbSNP:rs387907126Add BLAST101
Natural variantiVAR_067327317S → N in ICCA. 1 PublicationCorresponds to variant dbSNP:rs387907125EnsemblClinVar.1
Seizures, benign familial infantile, 2 (BFIS2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS2 inheritance is autosomal dominant.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068426323G → E in BFIS2. 1 Publication1

Keywords - Diseasei

Disease mutation, Dystonia, Epilepsy

Organism-specific databases

DisGeNET

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DisGeNETi
112476

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

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GeneReviewsi
PRRT2

MalaCards human disease database

More...
MalaCardsi
PRRT2
MIMi128200 phenotype
602066 phenotype
605751 phenotype

Open Targets

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OpenTargetsi
ENSG00000167371

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

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Orphaneti
306 Benign familial infantile epilepsy
569 Familial or sporadic hemiplegic migraine
31709 Infantile convulsions and choreoathetosis
98811 Paroxysmal exertion-induced dyskinesia
98809 Paroxysmal kinesigenic dyskinesia
98810 Paroxysmal non-kinesigenic dyskinesia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA142671132

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PRRT2

Domain mapping of disease mutations (DMDM)

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DMDMi
74738828

<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_00003077451 – 340Proline-rich transmembrane protein 2Add BLAST340

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 residuei28PhosphoserineBy similarity1
Modified residuei74PhosphothreonineBy similarity1
Modified residuei238PhosphoserineBy similarity1
Modified residuei240Omega-N-methylarginineBy similarity1
Modified residuei248PhosphoserineBy similarity1
Modified residuei249PhosphoserineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

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

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PaxDbi
Q7Z6L0

PeptideAtlas

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PeptideAtlasi
Q7Z6L0

PRoteomics IDEntifications database

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PRIDEi
Q7Z6L0

ProteomicsDB human proteome resource

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ProteomicsDBi
69436 [Q7Z6L0-1]
69437 [Q7Z6L0-2]
69438 [Q7Z6L0-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q7Z6L0

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

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PhosphoSitePlusi
Q7Z6L0

<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
ENSG00000167371 Expressed in 89 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q7Z6L0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q7Z6L0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA014447
HPA019203

<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 the outer core of AMPAR complex (PubMed:25915028). AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing (By similarity).

Interacts with intersectin 1/ITSN1 (By similarity).

Interacts with SNARE complex components, including SNAP25, STX1A, SYT1 and SYT2; this interaction may inhibit SNARE complex formation (PubMed:25915028, PubMed:22832103).

By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
125188, 9 interactors

Protein interaction database and analysis system

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IntActi
Q7Z6L0, 8 interactors

Molecular INTeraction database

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MINTi
Q7Z6L0

STRING: functional protein association networks

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STRINGi
9606.ENSP00000456226

<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 biasi131 – 216Pro-richAdd BLAST86

<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 CD225/Dispanin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410J12U Eukaryota
ENOG410YRJ7 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161103

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000115721

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q7Z6L0

Identification of Orthologs from Complete Genome Data

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OMAi
VEEDRMG

Database of Orthologous Groups

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OrthoDBi
1101977at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q7Z6L0

TreeFam database of animal gene trees

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TreeFami
TF331357

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR007593 CD225/Dispanin_fam

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04505 CD225, 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>. 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 (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 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z6L0-1) [UniParc]FASTAAdd to basket

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
MAASSSEISE MKGVEESPKV PGEGPGHSEA ETGPPQVLAG VPDQPEAPQP
60 70 80 90 100
GPNTTAAPVD SGPKAGLAPE TTETPAGASE TAQATDLSLS PGGESKANCS
110 120 130 140 150
PEDPCQETVS KPEVSKEATA DQGSRLESAA PPEPAPEPAP QPDPRPDSQP
160 170 180 190 200
TPKPALQPEL PTQEDPTPEI LSESVGEKQE NGAVVPLQAG DGEEGPAPEP
210 220 230 240 250
HSPPSKKSPP ANGAPPRVLQ QLVEEDRMRR AHSGHPGSPR GSLSRHPSSQ
260 270 280 290 300
LAGPGVEGGE GTQKPRDYII LAILSCFCPM WPVNIVAFAY AVMSRNSLQQ
310 320 330 340
GDVDGAQRLG RVAKLLSIVA LVGGVLIIIA SCVINLGVYK
Length:340
Mass (Da):34,945
Last modified:October 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:iF4BBA6559F081E34
GO
Isoform 2 (identifier: Q7Z6L0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     337-337: G → GGEWGLGTGRGGMEGLARAALLTPAPALSCLSSLPLLCLSLSPPPPVCPSLSSPT

Show »
Length:394
Mass (Da):40,228
Checksum:iA4E5CC372F517A63
GO
Isoform 3 (identifier: Q7Z6L0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     294-340: SRNSLQQGDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK → VSPMGP

Note: No experimental confirmation available.
Show »
Length:299
Mass (Da):30,653
Checksum:i9822B327E98D55C4
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GTP1A0A1B0GTP1_HUMAN
Proline-rich transmembrane protein ...
PRRT2
286Annotation 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>
A0A1B0GTE9A0A1B0GTE9_HUMAN
Proline-rich transmembrane protein ...
PRRT2
287Annotation 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>
A0A1B0GTS0A0A1B0GTS0_HUMAN
Proline-rich transmembrane protein ...
PRRT2
145Annotation 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>
H3BN10H3BN10_HUMAN
Proline-rich transmembrane protein ...
PRRT2
106Annotation 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>
A0A1B0GU37A0A1B0GU37_HUMAN
Proline-rich transmembrane protein ...
PRRT2
118Annotation 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>
A0A1B0GUW9A0A1B0GUW9_HUMAN
Proline-rich transmembrane protein ...
PRRT2
130Annotation 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>
A0A1B0GUR0A0A1B0GUR0_HUMAN
Proline-rich transmembrane protein ...
PRRT2
155Annotation 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>
A0A1B0GTR2A0A1B0GTR2_HUMAN
Proline-rich transmembrane protein ...
PRRT2
128Annotation 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>
A0A1B0GU25A0A1B0GU25_HUMAN
Proline-rich transmembrane protein ...
PRRT2
33Annotation 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>

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 conflicti151T → S in AAH11405 (PubMed:15489334).Curated1
Sequence conflicti214A → AP in CAD38881 (PubMed:17974005).Curated1
Sequence conflicti275S → P in CAD38881 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067010138P → A1 PublicationCorresponds to variant dbSNP:rs79182085EnsemblClinVar.1
Natural variantiVAR_067011147D → H1 PublicationCorresponds to variant dbSNP:rs79568162EnsemblClinVar.1
Natural variantiVAR_067012214A → P1 PublicationCorresponds to variant dbSNP:rs745594874EnsemblClinVar.1
Natural variantiVAR_067320215P → R1 PublicationCorresponds to variant dbSNP:rs200926711EnsemblClinVar.1
Natural variantiVAR_067321216P → L1 PublicationCorresponds to variant dbSNP:rs76335820EnsemblClinVar.1
Natural variantiVAR_067013237G → R1 PublicationCorresponds to variant dbSNP:rs199556853EnsemblClinVar.1
Natural variantiVAR_080269240 – 340Missing in ICCA; may be produced at very low levels due to a premature stop codon in the mRNA, that could lead to nonsense-mediated mRNA decay. 1 PublicationCorresponds to variant dbSNP:rs387907126Add BLAST101
Natural variantiVAR_067014245R → H1 PublicationCorresponds to variant dbSNP:rs754897123EnsemblClinVar.1
Natural variantiVAR_067322266R → W in EKD1. 1 PublicationCorresponds to variant dbSNP:rs387907128EnsemblClinVar.1
Natural variantiVAR_067323281W → R in EKD1. 1 Publication1
Natural variantiVAR_067324287A → T in EKD1; may affect subcellular location, becoming predominantly cytoplasmic; impairs interaction with GRIA1 and SNAP25. 2 Publications1
Natural variantiVAR_067325305G → R in EKD1. 1 PublicationCorresponds to variant dbSNP:rs767799831EnsemblClinVar.1
Natural variantiVAR_067326308R → C in EKD1; no effect on location at the plasma membrane. 2 PublicationsCorresponds to variant dbSNP:rs932713001EnsemblClinVar.1
Natural variantiVAR_067327317S → N in ICCA. 1 PublicationCorresponds to variant dbSNP:rs387907125EnsemblClinVar.1
Natural variantiVAR_068426323G → E in BFIS2. 1 Publication1

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_028814294 – 340SRNSL…LGVYK → VSPMGP in isoform 3. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_028815337G → GGEWGLGTGRGGMEGLARAA LLTPAPALSCLSSLPLLCLS LSPPPPVCPSLSSPT in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK092265 mRNA Translation: BAC03843.1
AK074572 mRNA Translation: BAC11067.1
AK292393 mRNA Translation: BAF85082.1
AL834185 mRNA Translation: CAD38881.1
CH471238 Genomic DNA Translation: EAW79991.1
BC011405 mRNA Translation: AAH11405.1
BC053594 mRNA Translation: AAH53594.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10654.1 [Q7Z6L0-1]
CCDS58445.1 [Q7Z6L0-2]
CCDS58446.1 [Q7Z6L0-3]

NCBI Reference Sequences

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RefSeqi
NP_001243371.1, NM_001256442.1 [Q7Z6L0-2]
NP_001243372.1, NM_001256443.1 [Q7Z6L0-3]
NP_660282.2, NM_145239.2 [Q7Z6L0-1]
XP_011544017.1, XM_011545715.2 [Q7Z6L0-2]
XP_011544018.1, XM_011545716.2
XP_016878377.1, XM_017022888.1 [Q7Z6L0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000300797; ENSP00000300797; ENSG00000167371 [Q7Z6L0-3]
ENST00000358758; ENSP00000351608; ENSG00000167371 [Q7Z6L0-1]
ENST00000567659; ENSP00000456226; ENSG00000167371 [Q7Z6L0-2]
ENST00000572820; ENSP00000458291; ENSG00000167371 [Q7Z6L0-1]
ENST00000636131; ENSP00000490390; ENSG00000167371 [Q7Z6L0-3]
ENST00000637064; ENSP00000490826; ENSG00000167371 [Q7Z6L0-1]
ENST00000645336; ENSP00000496452; ENSG00000167371 [Q7Z6L0-1]
ENST00000647876; ENSP00000498021; ENSG00000167371 [Q7Z6L0-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
112476

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:112476

UCSC genome browser

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UCSCi
uc002dud.4 human [Q7Z6L0-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">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

Proline-rich transmembrane protein 2 (PRRT2)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092265 mRNA Translation: BAC03843.1
AK074572 mRNA Translation: BAC11067.1
AK292393 mRNA Translation: BAF85082.1
AL834185 mRNA Translation: CAD38881.1
CH471238 Genomic DNA Translation: EAW79991.1
BC011405 mRNA Translation: AAH11405.1
BC053594 mRNA Translation: AAH53594.1
CCDSiCCDS10654.1 [Q7Z6L0-1]
CCDS58445.1 [Q7Z6L0-2]
CCDS58446.1 [Q7Z6L0-3]
RefSeqiNP_001243371.1, NM_001256442.1 [Q7Z6L0-2]
NP_001243372.1, NM_001256443.1 [Q7Z6L0-3]
NP_660282.2, NM_145239.2 [Q7Z6L0-1]
XP_011544017.1, XM_011545715.2 [Q7Z6L0-2]
XP_011544018.1, XM_011545716.2
XP_016878377.1, XM_017022888.1 [Q7Z6L0-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi125188, 9 interactors
IntActiQ7Z6L0, 8 interactors
MINTiQ7Z6L0
STRINGi9606.ENSP00000456226

Protein family/group databases

TCDBi8.A.58.2.1 the dispanin (dispanin) family

PTM databases

iPTMnetiQ7Z6L0
PhosphoSitePlusiQ7Z6L0

Polymorphism and mutation databases

BioMutaiPRRT2
DMDMi74738828

Proteomic databases

PaxDbiQ7Z6L0
PeptideAtlasiQ7Z6L0
PRIDEiQ7Z6L0
ProteomicsDBi69436 [Q7Z6L0-1]
69437 [Q7Z6L0-2]
69438 [Q7Z6L0-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
112476
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300797; ENSP00000300797; ENSG00000167371 [Q7Z6L0-3]
ENST00000358758; ENSP00000351608; ENSG00000167371 [Q7Z6L0-1]
ENST00000567659; ENSP00000456226; ENSG00000167371 [Q7Z6L0-2]
ENST00000572820; ENSP00000458291; ENSG00000167371 [Q7Z6L0-1]
ENST00000636131; ENSP00000490390; ENSG00000167371 [Q7Z6L0-3]
ENST00000637064; ENSP00000490826; ENSG00000167371 [Q7Z6L0-1]
ENST00000645336; ENSP00000496452; ENSG00000167371 [Q7Z6L0-1]
ENST00000647876; ENSP00000498021; ENSG00000167371 [Q7Z6L0-3]
GeneIDi112476
KEGGihsa:112476
UCSCiuc002dud.4 human [Q7Z6L0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
112476
DisGeNETi112476

GeneCards: human genes, protein and diseases

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GeneCardsi
PRRT2
GeneReviewsiPRRT2
HGNCiHGNC:30500 PRRT2
HPAiHPA014447
HPA019203
MalaCardsiPRRT2
MIMi128200 phenotype
602066 phenotype
605751 phenotype
614386 gene
neXtProtiNX_Q7Z6L0
OpenTargetsiENSG00000167371
Orphaneti306 Benign familial infantile epilepsy
569 Familial or sporadic hemiplegic migraine
31709 Infantile convulsions and choreoathetosis
98811 Paroxysmal exertion-induced dyskinesia
98809 Paroxysmal kinesigenic dyskinesia
98810 Paroxysmal non-kinesigenic dyskinesia
PharmGKBiPA142671132

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410J12U Eukaryota
ENOG410YRJ7 LUCA
GeneTreeiENSGT00940000161103
HOGENOMiHOG000115721
InParanoidiQ7Z6L0
OMAiVEEDRMG
OrthoDBi1101977at2759
PhylomeDBiQ7Z6L0
TreeFamiTF331357

Enzyme and pathway databases

SignaLinkiQ7Z6L0

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PRRT2

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

More...
GenomeRNAii
112476

Protein Ontology

More...
PROi
PR:Q7Z6L0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000167371 Expressed in 89 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiQ7Z6L0 baseline and differential
GenevisibleiQ7Z6L0 HS

Family and domain databases

InterProiView protein in InterPro
IPR007593 CD225/Dispanin_fam
PfamiView protein in Pfam
PF04505 CD225, 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 nameiPRRT2_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: Q7Z6L0
Secondary accession number(s): A8K8M8
, Q8N2N8, Q8NAQ7, Q8ND36, Q96FA8
<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 23, 2007
Last sequence update: October 1, 2003
Last modified: July 31, 2019
This is version 128 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 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 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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