Plakophilin 2

Alternative Names

  • PKP2
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OMIM Number

602861

NCBI Gene ID

5318

Uniprot ID

Q99959

Length

106,023 bases

No. of Exons

14

No. of isoforms

2

Protein Name

Plakophilin-2

Molecular Mass

97415 Da

Amino Acid Count

881

Genomic Location

chr12:32,790,755-32,896,777

Gene Map Locus
12p11.21

Description

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.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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001005242.3:c.184C>ALebanonchr12:32896548Likely BenignLikely BenignNG_009000.1:g.5299C>A; NM_001005242.3:c.184C>A; NP_001005242.2:p.Gln62Lys199601548161332
NM_001005242.3:c.2377delLebanonchr12:32792713Likely Pathogenic, PathogenicPathogenicArrhythmogenic Right ventricular Dysplasia, Familial, 9NG_009000.1:g.109135del; NM_001005242.3:c.2377del; NP_001005242.2:p.Ser793fs727504432177995
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