Human Gene PKP2 (ENST00000340811.9_9) from GENCODE V47lift37
Description: Regulates focal adhesion turnover resulting in changes in focal adhesion size, cell adhesion and cell spreading, potentially via transcriptional modulation of beta-integrins (PubMed:23884246). Required to maintain gingival epithelial barrier function (PubMed:34368962). Required for cardiac sodium current propagation and electrical synchrony in cardiac myocytes (By similarity). Required for the formation of desmosome cell junctions in cardiomyocytes, thereby required for the correct formation of the heart, specifically trabeculation and formation of the atria walls (By similarity). Loss of desmosome cell junctions leads to mis-localization of DSP and DSG2 resulting in disruption of cell-cell adhesion and disordered intermediate filaments (By similarity). Modulates profibrotic gene expression in cardiomyocytes via regulation of DSP expression and subsequent activation of downstream TGFB1 and MAPK14/p38 MAPK signaling (By similarity). May play a role in junctional plaques (PubMed:22781308). Involved in the inhibition of viral infection by influenza A viruses (IAV) (PubMed:28169297). Acts as a host restriction factor for IAV viral propagation, potentially via disrupting the interaction of IAV polymerase complex proteins (PubMed:28169297). (from UniProt Q99959) Gencode Transcript: ENST00000340811.9_9 Gencode Gene: ENSG00000057294.19_13 Transcript (Including UTRs) Position: hg19 chr12:32,943,689-33,049,711 Size: 106,023 Total Exon Count: 13 Strand: - Coding Region Position: hg19 chr12:32,945,358-33,049,665 Size: 104,308 Coding Exon Count: 13
ID:PKP2_HUMAN DESCRIPTION: RecName: Full=Plakophilin-2; FUNCTION: May play a role in junctional plaques. SUBUNIT: Interacts with DSC2. SUBCELLULAR LOCATION: Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes. TISSUE SPECIFICITY: 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. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in PKP2 are the cause of familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]; also known as arrhythmogenic right ventricular cardiomyopathy 9 (ARVC9). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. SIMILARITY: Belongs to the beta-catenin family. SIMILARITY: Contains 8 ARM repeats. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKP2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q99959
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005080 protein kinase C binding GO:0005515 protein binding GO:0017080 sodium channel regulator activity GO:0019215 intermediate filament binding GO:0032947 protein complex scaffold GO:0044325 ion channel binding GO:0045294 alpha-catenin binding GO:0045296 cadherin binding GO:0086083 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication
Biological Process: GO:0002159 desmosome assembly GO:0007155 cell adhesion GO:0007507 heart development GO:0010765 positive regulation of sodium ion transport GO:0031424 keratinization GO:0045110 intermediate filament bundle assembly GO:0048496 maintenance of animal organ identity GO:0055010 ventricular cardiac muscle tissue morphogenesis GO:0070268 cornification GO:0072659 protein localization to plasma membrane GO:0086002 cardiac muscle cell action potential involved in contraction GO:0086005 ventricular cardiac muscle cell action potential GO:0086019 cell-cell signaling involved in cardiac conduction GO:0086064 cell communication by electrical coupling involved in cardiac conduction GO:0086073 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086091 regulation of heart rate by cardiac conduction GO:0098609 cell-cell adhesion GO:0098911 regulation of ventricular cardiac muscle cell action potential
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
