The PLEC gene homepage

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_201378.2, NM_201379.1, NM_201380.2, NM_201381.1, NM_201382.2, NM_201383.1, NM_201384.1
Associated with diseases	EBSND, LGMD-2Q, Epidermolysa bullosa simplex and limb girdle muscular dystrophy, Epidermolysis bullosa simplex with pyloric atresia, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa with pyloric atresia
Citation reference(s)	-
Curators (1)	Johan T. den Dunnen
Total number of public variants reported	845
Unique public DNA variants reported	126
Individuals with public variants	35
Hidden variants	444
Date created	October 30, 2013
Date last updated	September 28, 2016
Version	PLEC:160928

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
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
External URL	List of LSDBs for this gene The reference LOVD for this gene, if available
HGNC	HGNC:9069
Entrez Gene	5339
PubMed articles	PLEC
OMIM - Gene	601282
OMIM - Diseases	EBSND (epidermolysis bullosa simplex?, with nail dystrophy (EBSND)) LGMD-2Q (dystrophy, muscular, limb-girdle, type 2Q (LGMD-2Q)) Epidermolysa bullosa simplex and limb girdle muscular dystrophy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa with pyloric atresia
HGMD	PLEC
GeneCards	PLEC
GeneTests	PLEC

Active transcripts

Legend

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How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00018849	8	Manually created transcript.	NM_201379.1	-	844
00018850	8	Manually created transcript.	NM_201380.2	-	844
00018851	8	Manually created transcript. (removed from reference sequence)	NM_201382.2	-	840
00018852	8	Manually created transcript. (removed from reference sequence)	NM_201383.1	-	840
00018853	8	Manually created transcript.	NM_201384.1	-	840
00005910	8	transcript variant 7	NM_201381.1	NP_958783.1	839
00018847	8	Manually created transcript. (removed from reference sequence)	NM_000445.3	-	839
00018848	8	Manually created transcript.	NM_201378.2	-	839

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 © 2013-2025. 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.

MyGenome LOVD - This database is for training purposes only

PLEC (plectin)