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Plakophilin 2 OKDB#: 880
 Symbols: Plakophilin 2 Species: human
 Synonyms: PKP2  Locus: 12p11 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment Desmosomes are a type of plaque-coated adhering junction. Mertens et al. (1996) isolated cDNAs encoding 2 forms of plakophilin-2 (PKP2), which they named PKP2a and PKP2b, from human colon carcinoma and heart cDNA libraries. The predicted 837-amino acid PKP2a protein contains 9 complete copies of the armadillo motif, which is an approximately 42-amino acid domain first defined in the Drosophila 'armadillo' gene product. Compared with PKP2a, the predicted 881-amino acid PKP2b protein contains an insertion of 44 amino acids between the second and third armadillo motifs. Immunolocalization studies showed that PKP2 is a constituent of the desmosomal plaque in simple epithelia, some stratified epithelia, and some nonepithelial cells. PKP2 is also enriched in the karyoplasm of cells of various types, including those lacking desmosomes. Northern blot analysis detected approximately 5.3-kb PKP2 transcripts in diverse human cell lines and tissues representing both epithelial and nonepithelial cells.

General function Cell adhesion molecule
Comment
Cellular localization Plasma membrane
Comment
Ovarian function Oogenesis
Comment
Expression regulated by
Comment
Ovarian localization Oocyte
Comment Oocyte developmental competence was predicted on the basis of the morphological appearance of their originating ovary as previously established and were divided into groups H (high competence) and L (low competence) by Brevini-Gandolfi TA, et al. . The length of the poly(A) tail of the following genes, beta-actin (beta-Act), connexin 43, glucose transporter type 1, heat shock protein 70, oct-4, plakophilin, pyruvate dehydrogenase phosphatase (PDP), and RNA poly(A) polymerase, was determined at the germinal vesicle (GV) and metaphase II (MII) stage. The results indicated that the poly(A) tail of all genes except for beta-Act and PDP, is shorter after in vitro maturation (IVM) in both groups.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: March 8, 2000, midnight by: hsueh   email:
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last update: March 8, 2000, midnight by: hsueh    email:



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