The HDAC4 gene homepage

General information
Gene symbol HDAC4
Gene name histone deacetylase 4
Chromosome 2
Chromosomal band q37.3
Imprinted Unknown
Genomic reference NG_009235.1
Transcript reference NM_006037.3
Exon/intron information NM_006037.3 exon/intron table
Associated with diseases del 2q37, ID, NEDCHF
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Francesca Marta Elli, Giovanna Mantovani, and Guiomar Perez de Nanclares
Total number of public variants reported 81
Unique public DNA variants reported 64
Individuals with public variants 10
Hidden variants 6
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created July 21, 2010
Date last updated November 27, 2023
Version HDAC4:231127

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_006037.3.
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
HGNC 14063
Entrez Gene 9759
PubMed articles HDAC4
OMIM - Gene 605314
OMIM - Diseases del 2q37 (BDMR)
NEDCHF (neurodevelopmental disorder with central hypotonia and dysmorphic facies)
GeneCards HDAC4
GeneTests HDAC4
Orphanet HDAC4

Active transcripts




NCBI ID     

NCBI Protein ID     

00001434 2 histone deacetylase 4 NM_006037.3 NP_006028.2 81

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 © 2010-2023. 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.