Gene
pkp2
- ID
- ZDB-GENE-041210-167
- Name
- plakophilin 2
- Symbol
- pkp2 Nomenclature History
- Previous Names
-
- si:ch211-11c20.1
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to enable cadherin binding activity. Acts upstream of or within desmosome organization and heart looping. Predicted to be located in desmosome. Predicted to be active in several cellular components, including adherens junction; intercalated disc; and nucleus. Is expressed in epidermis; heart; and neuroepithelial cell. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and arrhythmogenic right ventricular dysplasia 9. Orthologous to human PKP2 (plakophilin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Moriarty et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arrhythmogenic right ventricular dysplasia 9 | Alliance | Arrhythmogenic right ventricular dysplasia 9 | 609040 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Armadillo | Armadillo-like helical | Armadillo-type fold | Plakophilin/Delta catenin |
|---|---|---|---|---|---|---|
| UniProtKB:B0BF33 | InterPro | 815 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-11C20 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001113433 (1) | 2824 nt | ||
| Genomic | GenBank:BX001012 (1) | 158481 nt | ||
| Polypeptide | UniProtKB:B0BF33 (1) | 815 aa |
- Fukuda, R., Gunawan, F., Beisaw, A., Jimenez-Amilburu, V., Maischein, H.M., Kostin, S., Kawakami, K., Stainier, D.Y. (2017) Proteolysis regulates cardiomyocyte maturation and tissue integration. Nature communications. 8:14495
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Shih, Y.H., Zhang, Y., Ding, Y., Ross, C.A., Li, H., Olson, T.M., Xu, X. (2015) Cardiac Transcriptome and Dilated Cardiomyopathy Genes in Zebrafish. Circulation. Cardiovascular genetics. 8(2):261-9
- Moriarty, M.A., Ryan, R., Lalor, P., Dockery, P., Byrnes, L., and Grealy, M. (2012) Loss of plakophilin 2 disrupts heart development in zebrafish. The International journal of developmental biology. 56(9):711-718
- Moriarty, M.A., Martin, E.D., Byrnes, L., and Grealy, M. (2008) Molecular cloning and developmental expression of plakophilin 2 in zebrafish. Biochemical and Biophysical Research Communications. 367(1):124-129
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