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EZH2 (enhancer of zeste homolog 2 (Drosophila))

Identity

Other namesENX-1
ENX1
EZH1
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

 

External links

Nomenclature
HGNC (Hugo)EZH2   3527
Entrez_Gene (NCBI)EZH2  2146  enhancer of zeste homolog 2 (Drosophila)
Cards
GeneCards (Weizmann)EZH2
Ensembl (Hinxton)ENSG00000106462 [Gene_View]  chr7:148504464-148581441 [Contig_View]  EZH2 [Vega]
AceView (NCBI)EZH2
Genatlas (Paris)EZH2
SOURCE (Stanford)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 (SRS)NM_001203247 NM_001203248 NM_001203249 NM_004456 NM_152998
RefSeq transcript (Entrez)NM_001203247 NM_001203248 NM_001203249 NM_004456 NM_152998
RefSeq genomic (SRS)AC_000068 AC_000139 NC_000007 NC_018918 NG_032043 NT_007914 NT_079596 NW_001839078 NW_004078033
RefSeq genomic (Entrez)AC_000068 AC_000139 NC_000007 NC_018918 NG_032043 NT_007914 NT_079596 NW_001839078 NW_004078033
Consensus coding sequences : CCDS (NCBI)EZH2
Cluster EST : UnigeneHs.732308 [ SRS ] Hs.732308 [ NCBI ]
CGAP (NCI)Hs.732308
Alternative Splicing : Fast-db (Paris)GSHG0028690
Alternative Splicing GalleryENSG00000106462
Gene ExpressionEZH2 [ NCBI-GEO ]   EZH2 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15910 (SRS) Q15910 (Uniprot)
NextProtQ15910
With graphics : InterProQ15910
Splice isoforms : SwissVarQ15910(Swissvar)
Domaine pattern : Prosite (SRS)CXC (PS51633)    SET (PS50280)   
Domaine pattern : Prosite (Expaxy)CXC (PS51633)    SET (PS50280)   
Domains : Interpro (SRS)CXC_dom    EZH2_WD-Binding    SANT/Myb    SET_dom   
Domains : Interpro (EBI)CXC_dom    EZH2_WD-Binding    SANT/Myb    SET_dom   
Related proteins : CluSTrQ15910
Domain families : Pfam (SRS)EZH2_WD-Binding (PF11616)    SET (PF00856)   
Domain families : Pfam (Sanger)EZH2_WD-Binding (PF11616)    SET (PF00856)   
Domain families : Pfam (NCBI)pfam11616    pfam00856   
Domain families : Smart (EMBL)SANT (SM00717)  SET (SM00317)  
DMDM2146
Blocks (Seattle)Q15910
PDB (SRS)2C6V   
PDB (PDBSum)2C6V   
PDB (IMB)2C6V   
PDB (RSDB)2C6V   
Human Protein AtlasENSG00000106462
HPRD03342
IPIIPI00947357   IPI00376787   IPI00171252   IPI00947348   IPI00945286   IPI00941520   IPI00935586   IPI00946998   
Protein Interaction databases
DIP (DOE-UCLA)Q15910
IntAct (EBI)Q15910
FunCoupENSG00000106462
REACTOMEEZH2
Protein Interaction Database2146
BioGRIDEZH2
InParanoidQ15910
Interologous Interaction database Q15910
IntegromeDBEZH2
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EZH2
SNP (GeneSNP Utah)EZH2
SNP : HGBaseEZH2
Genetic variants : HAPMAPEZH2
Cancer Gene: CensusEZH2 
Somatic Mutations in Cancer : COSMICEZH2 
CONAN: Copy Number AnalysisEZH2 
Mutations and Diseases : HGMDEZH2
OMIM277590    601573    614421   
GENETests277590    601573    614421   
Disease Genetic AssociationEZH2
Huge Navigator EZH2 [HugePedia]  EZH2 [HugeCancerGEM]
Genomic VariantsEZH2  EZH2 [DGVbeta]
ClinVarEZH2
snp3D : Map Gene to Disease2146
General knowledge
Homologs : HomoloGeneEZH2
Homology/Alignments : Family Browser (UCSC)EZH2
Phylogenetic Trees/Animal Genes : TreeFamEZH2
Catalytic activity : Enzyme2.1.1.43 [ Enzyme-Expasy ]   2.1.1.43 [ Enzyme-SRS ]   2.1.1.43 [ IntEnz-EBI ]   2.1.1.43 [ BRENDA ]   2.1.1.43 [ KEGG ]   
Chemical/Protein Interactions : CTD2146
Chemical/Pharm GKB GenePA27939
Drug Sensitivity EZH2
Clinical trialEZH2
Cancer Resource (Charite)ENSG00000106462
Ontology : AmiGOS phase of mitotic cell cycle  negative regulation of transcription from RNA polymerase II promoter  core promoter binding  DNA binding  chromatin binding  protein binding  chromatin organization  transcription, DNA-dependent  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  
Ontology : EGO-EBIS phase of mitotic cell cycle  negative regulation of transcription from RNA polymerase II promoter  core promoter binding  DNA binding  chromatin binding  protein binding  chromatin organization  transcription, DNA-dependent  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  
Pathways : BIOCARTAThe PRC2 Complex Sets Long-term Gene Silencing Through Modification of Histone Tails [Genes]   
Other databases
Probes
Litterature
PubMed304 Pubmed reference(s) in Entrez
PubGeneEZH2
iHOPEZH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 14 18:00:36 CEST 2013

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