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Entry version 193 (16 Oct 2019)
Sequence version 2 (18 May 2010)
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Protein

Plakophilin-2

Gene

PKP2

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

May play a role in junctional plaques.1 Publication

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

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 processCell adhesion

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope

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

More...
SignaLinki
Q99959

<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:
Plakophilin-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PKP2
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9024 PKP2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602861 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99959

<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

Keywords - Cellular componenti

Cell junction, Nucleus

<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

Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
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_08039759Q → L in ARVD9; unknown pathological significance; decreased interaction with DSP. 1 PublicationCorresponds to variant dbSNP:rs730880179EnsemblClinVar.1
Natural variantiVAR_06570362Q → K in ARVD9; unknown pathological significance; decreased protein stability; decreased interaction with DSP; does not affect subcellular location to the desmosomes. 2 PublicationsCorresponds to variant dbSNP:rs199601548EnsemblClinVar.1
Natural variantiVAR_08039879 – 881Missing in ARVD9. 1 PublicationAdd BLAST803
Natural variantiVAR_065705137E → K in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs781739949EnsemblClinVar.1
Natural variantiVAR_065706169S → G in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs139139859EnsemblClinVar.1
Natural variantiVAR_065711424F → S in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs397516990EnsemblClinVar.1
Natural variantiVAR_065712489G → R in ARVD9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111450489EnsemblClinVar.1
Natural variantiVAR_021149615S → F in ARVD9; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs1060501186EnsemblClinVar.1
Natural variantiVAR_065716631Y → C in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs1060501183EnsemblClinVar.1
Natural variantiVAR_021150654K → Q in ARVD9; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs1319690519Ensembl.1
Natural variantiVAR_065717673G → V in ARVD9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1426480515Ensembl.1
Natural variantiVAR_065718787L → F in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs1462688980Ensembl.1
Natural variantiVAR_021151796C → R in ARVD9; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs794729098EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
5318

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

More...
GeneReviewsi
PKP2

MalaCards human disease database

More...
MalaCardsi
PKP2
MIMi609040 phenotype

Open Targets

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OpenTargetsi
ENSG00000057294

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

More...
Orphaneti
130 Brugada syndrome
293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
54260 Left ventricular noncompaction

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33357

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q99959

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PKP2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296452867

<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_00000642861 – 881Plakophilin-2Add BLAST881

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 residuei44PhosphoserineCombined sources1
Modified residuei46Omega-N-methylarginineCombined sources1
Modified residuei132PhosphoserineCombined sources1
Modified residuei135PhosphoserineCombined sources1
Modified residuei151PhosphoserineCombined sources1
Modified residuei154PhosphoserineCombined sources1
Modified residuei155PhosphoserineCombined sources1
Modified residuei169PhosphoserineCombined sources1
Modified residuei172PhosphoserineCombined sources1
Modified residuei177PhosphothreonineCombined sources1
Modified residuei183PhosphoserineCombined sources1
Modified residuei197PhosphoserineCombined sources1
Modified residuei251PhosphoserineCombined sources1
Modified residuei294PhosphoserineCombined sources1
Modified residuei329PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q99959

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q99959

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q99959

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q99959

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

More...
PaxDbi
Q99959

PeptideAtlas

More...
PeptideAtlasi
Q99959

PRoteomics IDEntifications database

More...
PRIDEi
Q99959

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
78543 [Q99959-1]
78544 [Q99959-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q99959

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

More...
PhosphoSitePlusi
Q99959

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q99959

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

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

Detected in heart right ventricle (at protein level). Widely expressed. Found at desmosomal plaques in simple and stratified epithelia and in non-epithelial tissues such as myocardium and lymph node follicles. In most stratified epithelia found in the desmosomes of the basal cell layer and seems to be absent from suprabasal strata.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000057294 Expressed in 177 organ(s), highest expression level in heart

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q99959 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q99959 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB037336
HPA014314
HPA056908

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

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

Interacts with DSC2.

Interacts with JUP and desmoplakin/DSP.

2 Publications

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111335, 77 interactors

Protein interaction database and analysis system

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IntActi
Q99959, 68 interactors

Molecular INTeraction database

More...
MINTi
Q99959

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000070846

<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

Secondary structure

1881
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q99959

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati341 – 383ARM 1Add BLAST43
Repeati385 – 424ARM 2Add BLAST40
Repeati427 – 467ARM 3Add BLAST41
Repeati571 – 616ARM 4Add BLAST46
Repeati671 – 711ARM 5Add BLAST41
Repeati719 – 758ARM 6Add BLAST40
Repeati763 – 804ARM 7Add BLAST42
Repeati807 – 849ARM 8Add BLAST43

<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 beta-catenin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1048 Eukaryota
ENOG410Y21Q LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158677

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000092312

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q99959

KEGG Orthology (KO)

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KOi
K12642

Identification of Orthologs from Complete Genome Data

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OMAi
HTELHNA

Database of Orthologous Groups

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OrthoDBi
765704at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q99959

TreeFam database of animal gene trees

More...
TreeFami
TF321877

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016024 ARM-type_fold
IPR000225 Armadillo
IPR028435 Plakophilin/d_Catenin

The PANTHER Classification System

More...
PANTHERi
PTHR10372 PTHR10372, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00514 Arm, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00185 ARM, 5 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50176 ARM_REPEAT, 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 (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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 2 (identifier: Q99959-1) [UniParc]FASTAAdd to basket
Also known as: B

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
MAAPGAPAEY GYIRTVLGQQ ILGQLDSSSL ALPSEAKLKL AGSSGRGGQT
60 70 80 90 100
VKSLRIQEQV QQTLARKGRS SVGNGNLHRT SSVPEYVYNL HLVENDFVGG
110 120 130 140 150
RSPVPKTYDM LKAGTTATYE GRWGRGTAQY SSQKSVEERS LRHPLRRLEI
160 170 180 190 200
SPDSSPERAH YTHSDYQYSQ RSQAGHTLHH QESRRAALLV PPRYARSEIV
210 220 230 240 250
GVSRAGTTSR QRHFDTYHRQ YQHGSVSDTV FDSIPANPAL LTYPRPGTSR
260 270 280 290 300
SMGNLLEKEN YLTAGLTVGQ VRPLVPLQPV TQNRASRSSW HQSSFHSTRT
310 320 330 340 350
LREAGPSVAV DSSGRRAHLT VGQAAAGGSG NLLTERSTFT DSQLGNADME
360 370 380 390 400
MTLERAVSML EADHMLPSRI SAAATFIQHE CFQKSEARKR VNQLRGILKL
410 420 430 440 450
LQLLKVQNED VQRAVCGALR NLVFEDNDNK LEVAELNGVP RLLQVLKQTR
460 470 480 490 500
DLETKKQITD HTVNLRSRNG WPGAVAHACN PSTLGGQGGR ITRSGVRDQP
510 520 530 540 550
DQHGLLWNLS SNDKLKNLMI TEALLTLTEN IIIPFSGWPE GDYPKANGLL
560 570 580 590 600
DFDIFYNVTG CLRNMSSAGA DGRKAMRRCD GLIDSLVHYV RGTIADYQPD
610 620 630 640 650
DKATENCVCI LHNLSYQLEA ELPEKYSQNI YIQNRNIQTD NNKSIGCFGS
660 670 680 690 700
RSRKVKEQYQ DVPMPEEKSN PKGVEWLWHS IVIRMYLSLI AKSVRNYTQE
710 720 730 740 750
ASLGALQNLT AGSGPMPTSV AQTVVQKESG LQHTRKMLHV GDPSVKKTAI
760 770 780 790 800
SLLRNLSRNL SLQNEIAKET LPDLVSIIPD TVPSTDLLIE TTASACYTLN
810 820 830 840 850
NIIQNSYQNA RDLLNTGGIQ KIMAISAGDA YASNKASKAA SVLLYSLWAH
860 870 880
TELHHAYKKA QFKKTDFVNS RTAKAYHSLK D
Note: Undetected in heart.
Length:881
Mass (Da):97,415
Last modified:May 18, 2010 - v2
<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:i947838B0C8275D5D
GO
Isoform 1 (identifier: Q99959-2) [UniParc]FASTAAdd to basket
Also known as: A

The sequence of this isoform differs from the canonical sequence as follows:
     460-503: Missing.

Note: Major isoform in heart.
Show »
Length:837
Mass (Da):92,756
Checksum:i8E9553F9B820E8DF
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
A0A087WXY2A0A087WXY2_HUMAN
Plakophilin-2
PKP2
36Annotation 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_06570126D → N May be associated with increased susceptibility to arrhythmogenic right ventricular cardiomyopathy. 2 PublicationsCorresponds to variant dbSNP:rs143004808EnsemblClinVar.1
Natural variantiVAR_06570258E → D1 PublicationCorresponds to variant dbSNP:rs146708884EnsemblClinVar.1
Natural variantiVAR_08039759Q → L in ARVD9; unknown pathological significance; decreased interaction with DSP. 1 PublicationCorresponds to variant dbSNP:rs730880179EnsemblClinVar.1
Natural variantiVAR_06570362Q → K in ARVD9; unknown pathological significance; decreased protein stability; decreased interaction with DSP; does not affect subcellular location to the desmosomes. 2 PublicationsCorresponds to variant dbSNP:rs199601548EnsemblClinVar.1
Natural variantiVAR_06570470S → I3 PublicationsCorresponds to variant dbSNP:rs75909145EnsemblClinVar.1
Natural variantiVAR_07027676N → S1 PublicationCorresponds to variant dbSNP:rs1201224837Ensembl.1
Natural variantiVAR_08039879 – 881Missing in ARVD9. 1 PublicationAdd BLAST803
Natural variantiVAR_070277112K → N1 Publication1
Natural variantiVAR_065705137E → K in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs781739949EnsemblClinVar.1
Natural variantiVAR_021148140S → F3 PublicationsCorresponds to variant dbSNP:rs150821281EnsemblClinVar.1
Natural variantiVAR_065706169S → G in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs139139859EnsemblClinVar.1
Natural variantiVAR_065707195A → V1 PublicationCorresponds to variant dbSNP:rs1041783952Ensembl.1
Natural variantiVAR_065708276P → S1 PublicationCorresponds to variant dbSNP:rs201944276EnsemblClinVar.1
Natural variantiVAR_065709338T → A1 PublicationCorresponds to variant dbSNP:rs139851304EnsemblClinVar.1
Natural variantiVAR_063108366L → P5 PublicationsCorresponds to variant dbSNP:rs1046116EnsemblClinVar.1
Natural variantiVAR_065710372A → P2 PublicationsCorresponds to variant dbSNP:rs200586695EnsemblClinVar.1
Natural variantiVAR_065711424F → S in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs397516990EnsemblClinVar.1
Natural variantiVAR_065712489G → R in ARVD9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111450489EnsemblClinVar.1
Natural variantiVAR_070037490R → W1 PublicationCorresponds to variant dbSNP:rs149930872EnsemblClinVar.1
Natural variantiVAR_065713526T → M1 PublicationCorresponds to variant dbSNP:rs146882581EnsemblClinVar.1
Natural variantiVAR_065714531I → S2 PublicationsCorresponds to variant dbSNP:rs147240502EnsemblClinVar.1
Natural variantiVAR_065715587V → I May be associated with increased susceptibility to arrhythmogenic right ventricular cardiomyopathy. 4 PublicationsCorresponds to variant dbSNP:rs146102241EnsemblClinVar.1
Natural variantiVAR_021149615S → F in ARVD9; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs1060501186EnsemblClinVar.1
Natural variantiVAR_065716631Y → C in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs1060501183EnsemblClinVar.1
Natural variantiVAR_021150654K → Q in ARVD9; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs1319690519Ensembl.1
Natural variantiVAR_065717673G → V in ARVD9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1426480515Ensembl.1
Natural variantiVAR_065718787L → F in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs1462688980Ensembl.1
Natural variantiVAR_021151796C → R in ARVD9; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs794729098EnsemblClinVar.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_006736460 – 503Missing in isoform 1. 2 PublicationsAdd BLAST44

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
X97675 mRNA Translation: CAA66264.1
X97675 mRNA Translation: CAA66265.1
EU492903 Genomic DNA Translation: ACD03459.1
EU520483 mRNA Translation: ACD13292.1
EU520484 mRNA Translation: ACD13293.1
AC087311 Genomic DNA No translation available.
AC087588 Genomic DNA No translation available.
CH471116 Genomic DNA Translation: EAW88511.1
CH471116 Genomic DNA Translation: EAW88514.1
CH471116 Genomic DNA Translation: EAW88515.1
BC094762 mRNA Translation: AAH94762.1
BC126199 mRNA Translation: AAI26200.1
BC143966 mRNA Translation: AAI43967.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31771.1 [Q99959-2]
CCDS8731.1 [Q99959-1]

NCBI Reference Sequences

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RefSeqi
NP_001005242.2, NM_001005242.2 [Q99959-2]
NP_004563.2, NM_004572.3 [Q99959-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000070846; ENSP00000070846; ENSG00000057294 [Q99959-1]
ENST00000340811; ENSP00000342800; ENSG00000057294 [Q99959-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5318

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5318

UCSC genome browser

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UCSCi
uc001rlj.5 human [Q99959-1]

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
X97675 mRNA Translation: CAA66264.1
X97675 mRNA Translation: CAA66265.1
EU492903 Genomic DNA Translation: ACD03459.1
EU520483 mRNA Translation: ACD13292.1
EU520484 mRNA Translation: ACD13293.1
AC087311 Genomic DNA No translation available.
AC087588 Genomic DNA No translation available.
CH471116 Genomic DNA Translation: EAW88511.1
CH471116 Genomic DNA Translation: EAW88514.1
CH471116 Genomic DNA Translation: EAW88515.1
BC094762 mRNA Translation: AAH94762.1
BC126199 mRNA Translation: AAI26200.1
BC143966 mRNA Translation: AAI43967.1
CCDSiCCDS31771.1 [Q99959-2]
CCDS8731.1 [Q99959-1]
RefSeqiNP_001005242.2, NM_001005242.2 [Q99959-2]
NP_004563.2, NM_004572.3 [Q99959-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3TT9X-ray1.55A346-620[»]
SMRiQ99959
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi111335, 77 interactors
IntActiQ99959, 68 interactors
MINTiQ99959
STRINGi9606.ENSP00000070846

PTM databases

iPTMnetiQ99959
PhosphoSitePlusiQ99959
SwissPalmiQ99959

Polymorphism and mutation databases

BioMutaiPKP2
DMDMi296452867

Proteomic databases

EPDiQ99959
jPOSTiQ99959
MassIVEiQ99959
MaxQBiQ99959
PaxDbiQ99959
PeptideAtlasiQ99959
PRIDEiQ99959
ProteomicsDBi78543 [Q99959-1]
78544 [Q99959-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5318

Genome annotation databases

EnsembliENST00000070846; ENSP00000070846; ENSG00000057294 [Q99959-1]
ENST00000340811; ENSP00000342800; ENSG00000057294 [Q99959-2]
GeneIDi5318
KEGGihsa:5318
UCSCiuc001rlj.5 human [Q99959-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5318
DisGeNETi5318

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PKP2
GeneReviewsiPKP2
HGNCiHGNC:9024 PKP2
HPAiCAB037336
HPA014314
HPA056908
MalaCardsiPKP2
MIMi602861 gene
609040 phenotype
neXtProtiNX_Q99959
OpenTargetsiENSG00000057294
Orphaneti130 Brugada syndrome
293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
54260 Left ventricular noncompaction
PharmGKBiPA33357

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1048 Eukaryota
ENOG410Y21Q LUCA
GeneTreeiENSGT00940000158677
HOGENOMiHOG000092312
InParanoidiQ99959
KOiK12642
OMAiHTELHNA
OrthoDBi765704at2759
PhylomeDBiQ99959
TreeFamiTF321877

Enzyme and pathway databases

ReactomeiR-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope
SignaLinkiQ99959

Miscellaneous databases

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

More...
ChiTaRSi
PKP2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PKP2

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

More...
GenomeRNAii
5318
PharosiQ99959

Protein Ontology

More...
PROi
PR:Q99959

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000057294 Expressed in 177 organ(s), highest expression level in heart
ExpressionAtlasiQ99959 baseline and differential
GenevisibleiQ99959 HS

Family and domain databases

InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR000225 Armadillo
IPR028435 Plakophilin/d_Catenin
PANTHERiPTHR10372 PTHR10372, 1 hit
PfamiView protein in Pfam
PF00514 Arm, 1 hit
SMARTiView protein in SMART
SM00185 ARM, 5 hits
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50176 ARM_REPEAT, 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 nameiPKP2_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: Q99959
Secondary accession number(s): A0AV37
, B8QFA1, B8QGS6, B8QGS7, D3DUW9, Q4VC01, Q99960
<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: January 23, 2002
Last sequence update: May 18, 2010
Last modified: October 16, 2019
This is version 193 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  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 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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