PKP2
Sign in to saveAlso known as ARVD9, plakophilin 2
Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene. Plakophilin 2 is expressed in skin and cardiac muscle, where it functions to link cadherins to intermediate filaments in the cytoskeleton. In cardiac muscle, plakophilin-2 is found in desmosome structures located within intercalated discs. Mutations in PKP2 have been shown to be causal in arrhythmogenic right ventricular cardiomyopathy.
Gene data
PKP2- Name
- plakophilin 2
- Type
- protein-coding
- Aliases
- ARVD9
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].
via MyGene.info
Gene · Ensembl
plakophilin 2
- Symbol
- PKP2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 12:32,790,745-32,896,819
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 3364
- exact match
- identifiers.org/ncbigene/5318
- genomic end
- 32896777
- genomic start
- 32790755
- cytogenetic location
- 12p11.21
Sources (6)
via Wikidata · CC0
~7 min read
Article
8 sectionsContents
- Structure
- Function
- Clinical significance
- Interactions
- See also
- References
- Further reading
- External links
Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene. Plakophilin 2 is expressed in skin and cardiac muscle, where it functions to link cadherins to intermediate filaments in the cytoskeleton. In cardiac muscle, plakophilin-2 is found in desmosome structures located within intercalated discs. Mutations in PKP2 have been shown to be causal in arrhythmogenic right ventricular cardiomyopathy.
==Structure== Two splice variants of the PKP2 gene have been identified. The first has a molecular weight of 97.4 kDa (881 amino acids) and the second of molecular weight of 92.7 kDa (837 amino acids). A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13.