Gene table of PKP2 : plakophilin 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with PKP2OMIM linkNumber of associated genesgenes
PS107970ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIAClinVar, OMIM, HUMSAVAR link to OMIM 9TGFB3, DSP, TMEM43, DSC2, PKP2, CTNNA3, RYR2, DSG2, JUP
603829VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1ClinVar link to OMIM 13DSP, JPH2, MYH7, VCL, TTN, SNTA1, CACNA1C, RYR2, PKP2, KCNH2, RBM20, SCN5A, JUP

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Annotation of the gene PKP2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Arrhythmogenic right ventricular cardiomyopathy (ARVC)hsa054126.32
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860837.95
intermediate filament bindingGO:00192157.1
protein binding involved in cell adhesionGO:00986316.91
protein binding involved in cell-cell adhesionGO:00986327.34
kinase bindingGO:00199003.32
protein kinase C bindingGO:00050805.83
alpha-catenin bindingGO:00452947.44
enzyme bindingGO:00198992.27
structural molecule activityGO:00051983.1
protein kinase bindingGO:00199013.44
channel regulator activityGO:00162474.88
sodium channel regulator activityGO:00170806.3
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
protein bindingGO:00055150.46
protein complex bindingGO:00324033.09
ion channel bindingGO:00443255.02
molecular function regulatorGO:00987722.51
protein binding involved in heterotypic cell-cell adhesionGO:00860807.54
protein complex scaffoldGO:00329475.5