EZH2 gene homepage

General information
Gene symbol EZH2
Gene name enhancer of zeste homolog 2 (Drosophila)
Chromosome 7
Chromosomal band q35-q36
Imprinted Unknown
Genomic reference NG_032043.1
Transcript reference NM_004456.4
Exon/intron information NM_004456.4 exon/intron table
Associated with diseases CML, ID, JMML, MDS, WVS, WVS-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) William Gibson
Total number of public variants reported 112
Unique public DNA variants reported 90
Individuals with public variants 107
Hidden variants 0
Download all this gene's data Download all data
Notes 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 March 03, 2019
Version EZH2:190303

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_004456.4.
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 http://www.LOVD.nl/EZH2
HGNC 3527
Entrez Gene 2146
PubMed articles EZH2
OMIM - Gene 601573
OMIM - Diseases CML (leukemia, myeloid, chronic (CML))
JMML (CMML)
MDS (myelodysplastic syndrome (MDS))
WVS (Weaver syndrome (WVS))
WVS-2 (Weaver syndrome, type 2 (WVS-2))
HGMD EZH2
GeneCards EZH2
GeneTests EZH2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023814 7 transcript variant 1 NM_004456.4 NP_004447.2 112


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