PKP2 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0048496Biological processmaintenance of animal organ identity
GO_0072659Biological processprotein localization to plasma membrane
GO_0099017Biological processmaintenance of protein localization at cell tip
GO_0086002Biological processcardiac muscle cell action potential involved in contraction
GO_0007507Biological processheart development
GO_0086064Biological processcell communication by electrical coupling involved in cardiac conduction
GO_0086005Biological processventricular cardiac muscle cell action potential
GO_0010810Biological processregulation of cell-substrate adhesion
GO_0086019Biological processcell-cell signaling involved in cardiac conduction
GO_0055010Biological processventricular cardiac muscle tissue morphogenesis
GO_1900024Biological processregulation of substrate adhesion-dependent cell spreading
GO_0010765Biological processpositive regulation of sodium ion transport
GO_0045110Biological processintermediate filament bundle assembly
GO_0002934Biological processdesmosome organization
GO_0086091Biological processregulation of heart rate by cardiac conduction
GO_0002159Biological processdesmosome assembly
GO_0098911Biological processregulation of ventricular cardiac muscle cell action potential
GO_0098609Biological processcell-cell adhesion
GO_0086073Biological processbundle of His cell-Purkinje myocyte adhesion involved in cell communication
GO_0005886Cellular componentplasma membrane
GO_0016020Cellular componentmembrane
GO_0051286Cellular componentcell tip
GO_0005654Cellular componentnucleoplasm
GO_0005882Cellular componentintermediate filament
GO_0001533Cellular componentcornified envelope
GO_0005911Cellular componentcell-cell junction
GO_0005912Cellular componentadherens junction
GO_0005737Cellular componentcytoplasm
GO_0030054Cellular componentcell junction
GO_0030057Cellular componentdesmosome
GO_0014704Cellular componentintercalated disc
GO_0005634Cellular componentnucleus
GO_0005080Molecular functionprotein kinase C binding
GO_0045294Molecular functionalpha-catenin binding
GO_0060090Molecular functionmolecular adaptor activity
GO_0086083Molecular functioncell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication
GO_0045296Molecular functioncadherin binding
GO_0019215Molecular functionintermediate filament binding
GO_0044325Molecular functiontransmembrane transporter binding
GO_0017080Molecular functionsodium channel regulator activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene namePKP2
Protein namePlakophilin-2
Truncated plakophilin-2
Plakophilin 2
Synonyms
DescriptionFUNCTION: Regulates focal adhesion turnover resulting in changes in focal adhesion size, cell adhesion and cell spreading, potentially via transcriptional modulation of beta-integrins . Required to maintain gingival epithelial barrier function . 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 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 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 . 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 . May play a role in junctional plaques . Involved in the inhibition of viral infection by influenza A viruses (IAV) . Acts as a host restriction factor for IAV viral propagation, potentially via disrupting the interaction of IAV polymerase complex proteins . .

AccessionsB8QGS9
A0A087WXY2
ENST00000700559.2
Q99959
ENST00000546741.3
ENST00000340811.9 [Q99959-2]
A0A8V8TPU9
A0A8V8TQD7
B8QGS8
ENST00000700563.2
ENST00000070846.11 [Q99959-1]