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EZH2 (enhancer of zeste homolog 2 (Drosophila))

Identity

Other namesENX-1
ENX1
EZH1
EZH2b
KMT6
KMT6A
WVS
WVS2
HGNC (Hugo) EZH2
LocusID (NCBI) 2146
Location 7q36.1
Location_base_pair Starts at 148504464 and ends at 148581441 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias t0208p23p11ID1427

External links

Nomenclature
HGNC (Hugo)EZH2   3527
Cards
Entrez_Gene (NCBI)EZH2  2146  enhancer of zeste homolog 2 (Drosophila)
GeneCards (Weizmann)EZH2
Ensembl (Hinxton)ENSG00000106462 [Gene_View]  chr7:148504464-148581441 [Contig_View]  EZH2 [Vega]
ICGC DataPortalENSG00000106462
AceView (NCBI)EZH2
Genatlas (Paris)EZH2
WikiGenes2146
SOURCE (Princeton)NM_001203247 NM_001203248 NM_001203249 NM_004456 NM_152998
Genomic and cartography
GoldenPath (UCSC)EZH2  -  7q36.1   chr7:148504464-148581441 -  7q36.1   [Description]    (hg19-Feb_2009)
EnsemblEZH2 - 7q36.1 [CytoView]
Mapping of homologs : NCBIEZH2 [Mapview]
OMIM277590   601573   614421   
Gene and transcription
Genbank (Entrez)AB208895 AK092676 AK293239 AK302216 AK303585
RefSeq transcript (Entrez)NM_001203247 NM_001203248 NM_001203249 NM_004456 NM_152998
RefSeq genomic (Entrez)AC_000068 AC_000139 NC_000007 NC_018918 NG_032043 NT_007914 NT_079596 NW_001839078 NW_004929333
Consensus coding sequences : CCDS (NCBI)EZH2
Cluster EST : UnigeneHs.732308 [ NCBI ]
CGAP (NCI)Hs.732308
Alternative Splicing : Fast-db (Paris)GSHG0028690
Alternative Splicing GalleryENSG00000106462
Gene ExpressionEZH2 [ NCBI-GEO ]     EZH2 [ SEEK ]   EZH2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15910 (Uniprot)
NextProtQ15910  [Medical]
With graphics : InterProQ15910
Splice isoforms : SwissVarQ15910 (Swissvar)
Catalytic activity : Enzyme2.1.1.43 [ Enzyme-Expasy ]   2.1.1.432.1.1.43 [ IntEnz-EBI ]   2.1.1.43 [ BRENDA ]   2.1.1.43 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CXC (PS51633)    SET (PS50280)   
Domains : Interpro (EBI)CXC_dom    EZH2_WD-Binding    SANT/Myb    SET_dom   
Related proteins : CluSTrQ15910
Domain families : Pfam (Sanger)EZH2_WD-Binding (PF11616)    SET (PF00856)   
Domain families : Pfam (NCBI)pfam11616    pfam00856   
Domain families : Smart (EMBL)SANT (SM00717)  SET (SM00317)  
DMDM Disease mutations2146
Blocks (Seattle)Q15910
PDB (SRS)2C6V   
PDB (PDBSum)2C6V   
PDB (IMB)2C6V   
PDB (RSDB)2C6V   
Human Protein AtlasENSG00000106462 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ15910
HPRD03342
IPIIPI00947357   IPI00376787   IPI00171252   IPI00947348   IPI00945286   IPI00941520   IPI00935586   IPI00946998   
Protein Interaction databases
DIP (DOE-UCLA)Q15910
IntAct (EBI)Q15910
FunCoupENSG00000106462
BioGRIDEZH2
InParanoidQ15910
Interologous Interaction database Q15910
IntegromeDBEZH2
STRING (EMBL)EZH2
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  core promoter binding  DNA binding  chromatin binding  RNA binding  protein binding  chromatin organization  transcription, DNA-templated  regulation of transcription, DNA-dependent  positive regulation of epithelial to mesenchymal transition  regulation of gliogenesis  histone-lysine N-methyltransferase activity  cerebellar cortex development  positive regulation of Ras GTPase activity  negative regulation of transcription elongation from RNA polymerase II promoter  ESC/E(Z) complex  histone methyltransferase activity  regulation of cell proliferation  positive regulation of MAP kinase activity  sequence-specific DNA binding  pronucleus  negative regulation of epidermal cell differentiation  negative regulation of gene expression, epigenetic  negative regulation of transcription, DNA-dependent  negative regulation of retinoic acid receptor signaling pathway  negative regulation of striated muscle cell differentiation  G1 to G0 transition  histone H3-K27 methylation  positive regulation of protein serine/threonine kinase activity  negative regulation of G1/S transition of mitotic cell cycle  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  core promoter binding  DNA binding  chromatin binding  RNA binding  protein binding  chromatin organization  transcription, DNA-templated  regulation of transcription, DNA-dependent  positive regulation of epithelial to mesenchymal transition  regulation of gliogenesis  histone-lysine N-methyltransferase activity  cerebellar cortex development  positive regulation of Ras GTPase activity  negative regulation of transcription elongation from RNA polymerase II promoter  ESC/E(Z) complex  histone methyltransferase activity  regulation of cell proliferation  positive regulation of MAP kinase activity  sequence-specific DNA binding  pronucleus  negative regulation of epidermal cell differentiation  negative regulation of gene expression, epigenetic  negative regulation of transcription, DNA-dependent  negative regulation of retinoic acid receptor signaling pathway  negative regulation of striated muscle cell differentiation  G1 to G0 transition  histone H3-K27 methylation  positive regulation of protein serine/threonine kinase activity  negative regulation of G1/S transition of mitotic cell cycle  
Pathways : BIOCARTAThe PRC2 Complex Sets Long-term Gene Silencing Through Modification of Histone Tails [Genes]   
Pathways : KEGGMicroRNAs in cancer   
Protein Interaction DatabaseEZH2
Wikipedia pathwaysEZH2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EZH2
SNP (GeneSNP Utah)EZH2
SNP : HGBaseEZH2
Genetic variants : HAPMAPEZH2
1000_GenomesEZH2 
ICGC programENSG00000106462 
Cancer Gene: CensusEZH2 
Somatic Mutations in Cancer : COSMICEZH2 
CONAN: Copy Number AnalysisEZH2 
Mutations and Diseases : HGMDEZH2
OMIM277590    601573    614421   
MedgenEZH2
GENETestsEZH2
Disease Genetic AssociationEZH2
Huge Navigator EZH2 [HugePedia]  EZH2 [HugeCancerGEM]
Genomic VariantsEZH2  EZH2 [DGVbeta]
Exome VariantEZH2
dbVarEZH2
ClinVarEZH2
snp3D : Map Gene to Disease2146
General knowledge
Homologs : HomoloGeneEZH2
Homology/Alignments : Family Browser (UCSC)EZH2
Phylogenetic Trees/Animal Genes : TreeFamEZH2
Chemical/Protein Interactions : CTD2146
Chemical/Pharm GKB GenePA27939
Drug Sensitivity EZH2
Clinical trialEZH2
Cancer Resource (Charite)ENSG00000106462
Other databases
Probes
Litterature
PubMed340 Pubmed reference(s) in Entrez
CoreMineEZH2
iHOPEZH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 21 13:35:36 CEST 2014

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