We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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).
Cancer-related genes 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
17
Cytoband
q21.2
Chromosome location (bp)
41754604 - 41786931
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity)....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 major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system 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:0001954[positive regulation of cell-matrix adhesion] GO:0002159[desmosome assembly] GO:0003713[transcription coactivator activity] GO:0005198[structural molecule activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005912[adherens junction] GO:0005915[zonula adherens] GO:0005925[focal adhesion] GO:0007155[cell adhesion] GO:0009898[cytoplasmic side of plasma membrane] GO:0014704[intercalated disc] GO:0016020[membrane] GO:0016342[catenin complex] GO:0016477[cell migration] GO:0019903[protein phosphatase binding] GO:0030057[desmosome] GO:0032993[protein-DNA complex] GO:0035580[specific granule lumen] GO:0042127[regulation of cell population proliferation] GO:0042307[positive regulation of protein import into nucleus] GO:0042803[protein homodimerization activity] GO:0043537[negative regulation of blood vessel endothelial cell migration] GO:0045294[alpha-catenin binding] GO:0045296[cadherin binding] GO:0045766[positive regulation of angiogenesis] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0050839[cell adhesion molecule binding] GO:0050982[detection of mechanical stimulus] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0060070[canonical Wnt signaling pathway] GO:0070062[extracellular exosome] GO:0070161[anchoring junction] GO:0071603[endothelial cell-cell adhesion] GO:0071665[gamma-catenin-TCF7L2 complex] GO:0071681[cellular response to indole-3-methanol] GO:0072659[protein localization to plasma membrane] 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:0090263[positive regulation of canonical Wnt signaling pathway] GO:0098609[cell-cell adhesion] GO:0098911[regulation of ventricular cardiac muscle cell action potential] GO:0106006[cytoskeletal protein-membrane anchor activity] GO:0140297[DNA-binding transcription factor binding] GO:1904813[ficolin-1-rich granule lumen]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001533[cornified envelope] GO:0001954[positive regulation of cell-matrix adhesion] GO:0002159[desmosome assembly] GO:0003713[transcription coactivator activity] GO:0005198[structural molecule activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005912[adherens junction] GO:0005915[zonula adherens] GO:0005925[focal adhesion] GO:0007155[cell adhesion] GO:0009898[cytoplasmic side of plasma membrane] GO:0014704[intercalated disc] GO:0016020[membrane] GO:0016342[catenin complex] GO:0016477[cell migration] GO:0019903[protein phosphatase binding] GO:0030057[desmosome] GO:0032993[protein-DNA complex] GO:0035580[specific granule lumen] GO:0042127[regulation of cell population proliferation] GO:0042307[positive regulation of protein import into nucleus] GO:0042803[protein homodimerization activity] GO:0043537[negative regulation of blood vessel endothelial cell migration] GO:0045294[alpha-catenin binding] GO:0045296[cadherin binding] GO:0045766[positive regulation of angiogenesis] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0050839[cell adhesion molecule binding] GO:0050982[detection of mechanical stimulus] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0060070[canonical Wnt signaling pathway] GO:0070062[extracellular exosome] GO:0070161[anchoring junction] GO:0071603[endothelial cell-cell adhesion] GO:0071665[gamma-catenin-TCF7L2 complex] GO:0071681[cellular response to indole-3-methanol] GO:0072659[protein localization to plasma membrane] 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:0090263[positive regulation of canonical Wnt signaling pathway] GO:0098609[cell-cell adhesion] GO:0098911[regulation of ventricular cardiac muscle cell action potential] GO:0106006[cytoskeletal protein-membrane anchor activity] GO:0140297[DNA-binding transcription factor binding] GO:1904813[ficolin-1-rich granule lumen]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system 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:0001954[positive regulation of cell-matrix adhesion] GO:0002159[desmosome assembly] GO:0003713[transcription coactivator activity] GO:0005198[structural molecule activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005882[intermediate filament] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005912[adherens junction] GO:0005915[zonula adherens] GO:0005916[fascia adherens] GO:0005925[focal adhesion] GO:0007155[cell adhesion] GO:0009898[cytoplasmic side of plasma membrane] GO:0014704[intercalated disc] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016327[apicolateral plasma membrane] GO:0016328[lateral plasma membrane] GO:0016342[catenin complex] GO:0016477[cell migration] GO:0019901[protein kinase binding] GO:0019903[protein phosphatase binding] GO:0030018[Z disc] GO:0030057[desmosome] GO:0032993[protein-DNA complex] GO:0035580[specific granule lumen] GO:0042127[regulation of cell population proliferation] GO:0042307[positive regulation of protein import into nucleus] GO:0042803[protein homodimerization activity] GO:0043537[negative regulation of blood vessel endothelial cell migration] GO:0043588[skin development] GO:0044877[protein-containing complex binding] GO:0045294[alpha-catenin binding] GO:0045296[cadherin binding] GO:0045766[positive regulation of angiogenesis] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0050839[cell adhesion molecule binding] GO:0050982[detection of mechanical stimulus] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0060070[canonical Wnt signaling pathway] GO:0070062[extracellular exosome] GO:0070161[anchoring junction] GO:0071603[endothelial cell-cell adhesion] GO:0071665[gamma-catenin-TCF7L2 complex] GO:0071681[cellular response to indole-3-methanol] GO:0072659[protein localization to plasma membrane] 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:0090263[positive regulation of canonical Wnt signaling pathway] GO:0098609[cell-cell adhesion] GO:0098911[regulation of ventricular cardiac muscle cell action potential] GO:0106006[cytoskeletal protein-membrane anchor activity] GO:0140297[DNA-binding transcription factor binding] GO:1904813[ficolin-1-rich granule lumen] GO:1990782[protein tyrosine kinase binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
