The PKP2 gene homepage

General information
Gene symbol PKP2
Gene name plakophilin 2
Chromosome 12
Chromosomal band p11
Imprinted Unknown
Genomic reference NG_009000.1
Transcript reference NM_004572.3
Exon/intron information NM_004572.3 exon/intron table
Associated with diseases ARVD-9
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Paul van der Zwaag
Total number of public variants reported 931
Unique public DNA variants reported 495
Individuals with public variants 988
Hidden variants 19
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created January 23, 2009
Date last updated September 17, 2021
Version PKP2:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004572.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL ARVD/C genetic variants database
HGNC 9024
Entrez Gene 5318
PubMed articles PKP2
OMIM - Gene 602861
OMIM - Diseases ARVD-9 (dysplasia, arrhythmogenic right ventricular, type 9)
GeneCards PKP2
GeneTests PKP2
Orphanet PKP2

Active transcripts




NCBI ID     

NCBI Protein ID     

00001012 12 transcript variant 2b NM_004572.3 NP_004563.2 931

Copyright & disclaimer
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