Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
arrhythmogenic right ventricular cardiomyopathy
|
| gptkbp:encodes |
plakophilin-2 protein
|
| gptkbp:Entrez_Gene_ID |
5317
|
| gptkbp:expressedIn |
heart
|
| gptkbp:fullName |
gptkb:plakophilin-2
|
| gptkbp:function |
cell-cell adhesion
component of desmosomes |
| gptkbp:HGNC_ID |
9024
|
| https://www.w3.org/2000/01/rdf-schema#label |
PKP2
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_12
12p11 |
| gptkbp:mutationAssociatedWith |
gptkb:arrhythmia
cardiomyopathy |
| gptkbp:OMIM |
602861
|
| gptkbp:orthologInMouse |
Pkp2
|
| gptkbp:proteinFamily |
armadillo repeat proteins
|
| gptkbp:UniProtID |
Q99959
|
| gptkbp:bfsParent |
gptkb:ACMG_SF_v3.0
gptkb:arrhythmogenic_right_ventricular_dysplasia gptkb:plakophilin-2 |
| gptkbp:bfsLayer |
8
|