The PLEKHG5 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
General information
Gene symbol PLEKHG5
Gene name pleckstrin homology domain containing, family G (with RhoGef domain) member 5
Chromosome 1
Chromosomal band p36.31
Imprinted Unknown
Genomic reference LRG_262
Transcript reference NM_020631.4
Exon/intron information NM_020631.4 exon/intron table
Associated with diseases CMT, CMTRIC, DSMA4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 151
Unique public DNA variants reported 127
Individuals with public variants 147
Hidden variants 5
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. Variants submitted here will be shared with the IPNMDB.
Date created May 23, 2012
Date last updated November 27, 2023
Version PLEKHG5:231127

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_020631.4.
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 29105
Entrez Gene 57449
PubMed articles PLEKHG5
OMIM - Gene 611101
OMIM - Diseases CMTRIC (Charcot-Marie-Tooth disease, recessive intermediate C (CMTRIC))
DSMA4 (atrophy, muscular, spinal, distal, autosomal recessive, type 4 (DSMA-4))
GeneCards PLEKHG5
GeneTests PLEKHG5
Orphanet PLEKHG5

Active transcripts




NCBI ID     

NCBI Protein ID     

00016342 1 transcript variant 1 NM_020631.4 NP_065682.2 151

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 © 2012-2023. 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.