The PLEC gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol PLEC
Gene name plectin
Chromosome 8
Chromosomal band q24
Imprinted Unknown
Genomic reference NG_012492.1
Transcript reference NM_000445.3, NM_201384.1
Exon/intron information NM_000445.3 exon/intron table, NM_201384.1 exon/intron table
Associated with diseases EBSMD, EBSND, EBSOG, EBSPA, LGMDR17
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Global Variome, with Curator vacancy and Johan den Dunnen
Total number of public variants reported 714
Unique public DNA variants reported 540
Individuals with public variants 499
Hidden variants 155
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Date created March 01, 2010
Date last updated January 18, 2022
Version PLEC:220118

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_000445.3, NM_201384.1.
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
HGNC 9069
Entrez Gene 5339
PubMed articles PLEC
OMIM - Gene 601282
OMIM - Diseases EBSMD (epidermolysa bullosa simplex, with muscular dystrophy (EBSMD))
EBSND (epidermolysis bullosa simplex?, with nail dystrophy (EBSND))
EBSOG (epidermolysis bullosa simplex, Ogna type (EBSOG))
EBSPA (epidermolysis bullosa simplex, with pyloric atresia (EBSPA))
GeneCards PLEC
GeneTests PLEC
Orphanet PLEC

Active transcripts




NCBI ID     

NCBI Protein ID     

00016320 8 transcript variant 1 NM_000445.3 NP_000436.2 714
00025657 8 transcript variant 11 NM_201384.1 NP_958786.1 27

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2022. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.