PKP2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PKP2 |
| Official Name | plakophilin 2 [Source:HGNC Symbol;Acc:HGNC:9024] |
| Ensembl ID | ENSG00000057294 |
| Bio databases IDs | |
| Aliases | plakophilin 2 |
| Synonyms | 1200008D14RIK, 1200012P04Rik, AA516617, ARVD9, Pkp2l, plakophilin 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PKP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- intermediate filament binding
- Armadillo/beta-catenin-like repeat
- alpha-catenin binding
- HR domain
- protein kinase C binding
- Armadillo/beta-catenin-like repeats
- ion channel binding
- sodium channel regulator
- protein binding
- head domain
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- edema
- atrial fibrillation
- cardiomyopathy
- arrhythmia
- arrhythmogenic right ventricular dysplasia familial 9
- arrhythmogenic right ventricular cardiomyopathy
- nonsyndromic arrhythmogenic right ventricular cardiomyopathy
- hypoplasia
- aortic valve calcification
- catecholaminergic polymorphic ventricular tachycardia
role in cell
- expression in
- apoptosis
- migration
- proliferation
- binding in
- adhesion
- signaling in
- morphology
- stabilization in
- radioresistance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cornified envelope
- cell junction
- composite junction
- Cytoplasm
- cell borders
- cellular membrane
- Nucleus
- intermediate filaments
- intercellular junctions
- desmosomes
- granules
- nucleoplasm
- cell-cell adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PKP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cardiac muscle cell action potential involved in contraction
- ventricular cardiac muscle tissue morphogenesis
- regulation of ventricular cardiac muscle cell action potential
- regulation of substrate adhesion-dependent cell spreading
- cell-cell signaling involved in cardiac conduction
- maintenance of organ identity
- desmosome assembly
- heart development
- desmosome organization
- intermediate filament bundle assembly
- positive regulation of sodium ion transport
- regulation of heart rate by cardiac conduction
- regulation of cell-substrate adhesion
- cell communication by electrical coupling involved in cardiac conduction
- protein localization in plasma membrane
- bundle of His cell-Purkinje myocyte adhesion involved in cell communication
Cellular Component
Where in the cell the gene product is active
- intermediate filament
- plasma membrane
- nucleoplasm
- nucleus
- adherens junction
- cornified envelope
- cell-cell junction
- cell tip
- cytoplasm
- membrane
- cell junction
- intercalated disc
- desmosome
Molecular Function
What the gene product does at the molecular level
- sodium channel regulator activity
- alpha-catenin binding
- protein kinase C binding
- protein binding
- cadherin binding
- cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication
- intermediate filament binding
- ion channel binding
- binding, bridging