NP_004563.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
plakophilin-2 isoform 2b
NCBI Official Synonym Full Names
plakophilin 2
NCBI Official Synonym Symbols
NCBI Protein Information
plakophilin-2
UniProt Protein Name
Plakophilin-2
UniProt Entry Name
PKP2_HUMAN
NCBI Summary for PKP2
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 product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]
UniProt Comments for PKP2
plakophilin 2: May play a role in junctional plaques. Defects in PKP2 are the cause of familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9); also known as arrhythmogenic right ventricular cardiomyopathy 9 (ARVC9). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. Belongs to the beta-catenin family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Motility/polarity/chemotaxis; Cell adhesion
Chromosomal Location of Human Ortholog: 12p11
Cellular Component: nucleoplasm; desmosome; adherens junction; integral to membrane; plasma membrane; intermediate filament; intercellular junction; nucleus; cell junction
Molecular Function: protein binding; protein kinase C binding; sodium channel regulator activity; intermediate filament binding; protein complex scaffold
Biological Process: negative regulation of cell proliferation; cell-cell adhesion; gap junction assembly; heart development; lipid homeostasis; ventricular cardiac muscle morphogenesis; intermediate filament bundle assembly; maintenance of organ identity; negative regulation of cell migration
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Research Articles on PKP2
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Products associated with anti-PKP2 antibody
Pathways associated with anti-PKP2 antibody
Diseases associated with anti-PKP2 antibody
Disease Name |
Pubmed Publications |
Disease Models, Animal Antibodies |
>11 publications with PKP2 and Disease Models, Animal |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 Antibodies |
>8 publications with PKP2 and Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
Carcinoma, Squamous Cell Antibodies |
>4 publications with PKP2 and Carcinoma, Squamous Cell |
Nervous System Diseases Antibodies |
>3 publications with PKP2 and Nervous System Diseases |
Neoplasms, Experimental Antibodies |
>3 publications with PKP2 and Neoplasms, Experimental |
Adenocarcinoma Antibodies |
>3 publications with PKP2 and Adenocarcinoma |
Breast Neoplasms Antibodies |
>2 publications with PKP2 and Breast Neoplasms |
Fibrosis Antibodies |
>2 publications with PKP2 and Fibrosis |
Carcinoma, Hepatocellular Antibodies |
>1 publications with PKP2 and Carcinoma, Hepatocellular |
Neoplasm Metastasis Antibodies |
>1 publications with PKP2 and Neoplasm Metastasis |
Organs/Tissues associated with anti-PKP2 antibody
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