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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
12
Cytoband
p11.21
Chromosome location (bp)
32790745 - 32896777
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Regulates focal adhesion turnover resulting in changes in focal adhesion size, cell adhesion and cell spreading, potentially via transcriptional modulation of beta-integrins 1. Required to maintain gingival epithelial barrier function 2. Important component of the desmosome that is also required for localization of desmosome component proteins such as DSC2, DSG2 and JUP to the desmosome cell-cell junction 3. 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). Required for cardiac sodium current propagation and electrical synchrony in cardiac myocytes, via ANK3 stabilization and modulation of SCN5A/Nav1.5 localization to cell-cell junctions (By similarity). Required for mitochondrial function, nuclear envelope integrity and positive regulation of SIRT3 transcription via maintaining DES localization at its nuclear envelope and cell tip anchoring points, and thereby preserving regulation of the transcriptional program 4. Maintenance of nuclear envelope integrity protects against DNA damage and transcriptional dysregulation of genes, especially those involved in the electron transport chain, thereby preserving mitochondrial function and protecting against superoxide radical anion generation 5. May play a role in junctional plaques 6. Involved in the inhibition of viral infection by influenza A viruses (IAV) 7. Acts as a host restriction factor for IAV viral propagation, potentially via disrupting the interaction of IAV polymerase complex proteins 8....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell adhesion
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene may regulate the signaling activity of beta-catenin and is required to maintain transcription of genes that control intracellular calcium cycling including ryanodine receptor 2, ankyrin-B, triadin, and calcium channel, voltage-dependent, L type, alpha 1C. Mutations in this gene are associated with different inherited cardiac conditions including Arrythmogenic Cardiomyopathy, Brugada Syndrome, and Idiopathic Ventricular Fibrillation. A processed pseudogene with high similarity to this gene has been mapped to chromosome 12p13. [provided by RefSeq, May 2022]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001533[cornified envelope] GO:0002159[desmosome assembly] GO:0002934[desmosome organization] GO:0005080[protein kinase C binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005882[intermediate filament] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005912[adherens junction] GO:0007043[cell-cell junction assembly] GO:0007155[cell adhesion] GO:0007507[heart development] GO:0010765[positive regulation of sodium ion transport] GO:0010810[regulation of cell-substrate adhesion] GO:0014704[intercalated disc] GO:0016020[membrane] GO:0017080[sodium channel regulator activity] GO:0019215[intermediate filament binding] GO:0030054[cell junction] GO:0030057[desmosome] GO:0044325[transmembrane transporter binding] GO:0045110[intermediate filament bundle assembly] GO:0045294[alpha-catenin binding] GO:0045296[cadherin binding] GO:0048496[maintenance of animal organ identity] GO:0055010[ventricular cardiac muscle tissue morphogenesis] GO:0060090[molecular adaptor activity] GO:0070161[anchoring junction] 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:0086083[cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte 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] GO:1900024[regulation of substrate adhesion-dependent cell spreading]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001533[cornified envelope] GO:0002159[desmosome assembly] GO:0002934[desmosome organization] GO:0005080[protein kinase C binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005882[intermediate filament] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005912[adherens junction] GO:0007043[cell-cell junction assembly] GO:0007155[cell adhesion] GO:0007507[heart development] GO:0010765[positive regulation of sodium ion transport] GO:0010810[regulation of cell-substrate adhesion] GO:0014704[intercalated disc] GO:0016020[membrane] GO:0017080[sodium channel regulator activity] GO:0019215[intermediate filament binding] GO:0030054[cell junction] GO:0030057[desmosome] GO:0044325[transmembrane transporter binding] GO:0045110[intermediate filament bundle assembly] GO:0045294[alpha-catenin binding] GO:0045296[cadherin binding] GO:0048496[maintenance of animal organ identity] GO:0055010[ventricular cardiac muscle tissue morphogenesis] GO:0060090[molecular adaptor activity] GO:0070161[anchoring junction] 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:0086083[cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte 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] GO:1900024[regulation of substrate adhesion-dependent cell spreading]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
