EZH2 Gene
protein-coding GIFtS: 67
GCID: GC07M148504
|
|
enhancer of zeste homolog 2 (Drosophila)(Previous name: enhancer of zeste (Drosophila) homolog 2 )
| |
Aliases
for EZH2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Enhancer Of Zeste Homolog 2 (Drosophila)1 2 | | Enhancer Of Zeste (Drosophila) Homolog 21 | | ENX-11 2 3 | | ENX12 | | KMT61 2 3 | | WVS22 | | EZH11 2 5 | | Histone-Lysine N-Methyltransferase EZH22 | | KMT6A1 2 | | Enhancer Of Zeste Homolog 23 | | Lysine N-Methyltransferase 62 3 | | EC 2.1.18 | | EC 2.1.1.433 8 | | |
Export aliases for EZH2 gene to outside databasesPrevious GC identifers: GC07M146751 GC07M147819 GC07M147896 GC07M147942 GC07M148135 GC07M142583 |
Summaries
for EZH2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for EZH2:
This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes,which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. Thisprotein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclearprotein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splciedtranscript variants encoding distinct isoforms have been identified for this gene. (provided by RefSeq, Feb 2011)
UniProtKB/Swiss-Prot: EZH2_HUMAN, Q15910Function: Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9'(H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Ableto mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Comparedto EZH2-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3,which is required for embryonic stem cell identity and proper differentiation. The PRC2/EED-EZH2 complex may alsoserve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genesrepressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1, CDKN2A and retinoic acid target genes. EZH2 canalso methylate non-histone proteins such as the transcription factor GATA4
Gene Wiki entry for EZH2
|
Genomic Views
for EZH2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007914.15 NT_079596.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the EZH2 gene promoter:
E2F-4 E2F-3a E2F-5 MyoD E2F-2 GATA-1 E2F-1 E2F POU2F1
Other transcription factors
Search SABiosciences Chromatin IP Primers for EZH2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EZH2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q35-q36 Ensembl cytogenetic band: 7q36.1 HGNC cytogenetic band: 7q35-q36EZH2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M148504: view genomic region
(about GC identifiers)
Start:
|
148,504,475 bp from pter |
End:
|
148,581,414 bp from pter |
Size:
|
76,940 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 147,842,428-147,919,366 |
|
Proteins
for EZH2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: EZH2_HUMAN, Q15910 (See
protein sequence)Recommended Name: Histone-lysine N-methyltransferase EZH2 Size: 746 amino acids; 85363 Da
Subunit: Binds ATRX via the SET domain (Probable). Component of the PRC2/EED-EZH2 complex, which includes EED, EZH2,SUZ12, RBBP4 and RBBP7 and possibly AEBP2. The minimum components required for methyltransferase activity of thePRC2/EED-EZH2 complex are EED, EZH2 and SUZ12. The PRC2 complex may also interact with DNMT1, DNMT3A, DNMT3B and PHF1via the EZH2 subunit and with SIRT1 via the SUZ12 subunit. Interacts with HDAC1 and HDAC2. Interacts with PRAME
Subcellular location: Nucleus
Developmental stage: Expression decreases during senescence of embryonic fibroblasts (HEFs). Expression peaks at theG1/S phase boundary
Caution: Two variants of the PRC2 complex have been described, termed PRC3 and PRC4. Each of the three complexes mayinclude a different complement of EED isoforms, although the precise sequences of the isoforms in each complex havenot been determined. The PRC2 and PRC4 complexes may also methylate 'Lys-26' of histone H1 in addition to 'Lys-27' ofhistone H3 (PubMed:15099518 and PubMed:15684044), although other studies have demonstrated no methylation of 'Lys-26'of histone H1 by PRC2 (PubMed:16431907)
Sequence caution: Sequence=AAS07448.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from  and Proteopedia  for EZH2:2C6V (3D)
Secondary accessions: B2RAQ1 B3KS30 B7Z1D6 B7Z7L6 Q15755 Q75MG3 Q92857 Q96FI6Alternative splicing: 5 isoforms: Q15910-1 Q15910-2 Q15910-3 Q15910-4 Q15910-5 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for EZH2: NX_Q15910
Post-translational modifications:
Phosphorylated by AKT1. Phosphorylation by AKT1 reduces methyltransferase activity. Phosphorylation at Thr-345 by CDK1and CDK2 promotes maintenance of H3K27me3 levels at EZH2-target loci, thus leading to epigenetic gene silencing1
Sumoylated1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q15910
4/28 DME Specific Peptides for EZH2 (Q15910) (see all 28)
EZH2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001190176.1 NP_001190177.1 NP_001190178.1 NP_004447.2 NP_694543.1
ENSEMBL proteins: ENSP00000417377 ENSP00000417062 ENSP00000320147 ENSP00000419711 ENSP00000223193 ENSP00000419050 ENSP00000419856 ENSP00000417704 ENSP00000443219 ENSP00000439305
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
EZH2 for ontologies About GeneDecksing
EZH2 Antibody Products:
Assay Products for EZH2: |
Protein
Domains /
Families
for EZH2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
EZH2 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q15910ProtoNet protein and cluster: Q15910 1 Blocks protein family: IPB001214 Nuclear protein SET
UniProtKB/Swiss-Prot: EZH2_HUMAN, Q15910Similarity: Belongs to the histone-lysine methyltransferase family. EZ subfamilySimilarity: Contains 1 CXC domainSimilarity: Contains 1 SET domain |
Function
for EZH2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: EZH2_HUMAN, Q15910Function: Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9'(H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Ableto mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Comparedto EZH2-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3,which is required for embryonic stem cell identity and proper differentiation. The PRC2/EED-EZH2 complex may alsoserve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genesrepressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1, CDKN2A and retinoic acid target genes. EZH2 canalso methylate non-histone proteins such as the transcription factor GATA4Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +N(6)-methyl-L-lysine-[histone]Induction: Expression is induced by E2F1, E2F2 and E2F3. Expression is reduced in cells subject to numerous types ofstress including UV-, IR- and bleomycin-induced DNA damage and by activation of p53/TP53 Genatlas biochemistry entry for EZH2:Drosophila enhancer of zeste homolog 2,polycomb group,PcG
Enzyme Numbers (IUBMB): EC 2.1.1.431 2 EC 2.1.12
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EZH2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EZH2 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): EZH2 (NM_152998) | |  | Sino Biological Human cDNA Clone for EZH2 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EZH2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EZH2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EZH2 |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
EZH2 for ontologies About GeneDecksing
Animal Models:
Mouse knock-outs for EZH2: Ezh2tm1.1Tara Ezh2tm1.1Sho Ezh2tm1Jnw Ezh2tm2.1Sho
14 MGI mutant phenotypes (inferred from 9 alleles ) (MGI details for Ezh2):
EZH2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for EZH2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Integrated Pancreatic Cancer Pathway | | | 2 | Chromatin Regulation / Acetylation | | | 3 | Selected targets of p53 | | | 4 | miRs in Muscle Cell Differentiation | | | 5 | Signal transduction Activin A signaling regulation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for EZH2
1 
Cell Signaling Technology (CST) Pathway for EZH2
3  BioSystems Pathways for EZH2
EZH2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EZH2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/173 Interacting proteins for EZH2 (Q159101, 2, 3 ENSP000003201474) via UniProtKB, MINT, STRING, and/or I2D (see all 173)About this table
Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table
EZH2 for ontologies About GeneDecksing
|
Drugs & Compounds
for EZH2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
EZH2 for compounds About GeneDecksing
 Browse Tocris compounds for EZH2
3 HMDB Compounds for EZH2 About this table
3 Novoseek chemical compound relationships for EZH2 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| s-adenosylhomocysteine |
29.4 |
1 |
19638619 (1), 19934320 (1) |
| retinoic acid |
0 |
1 |
19578722 (1) |
| vegf |
0 |
6 |
16447267 (4), 16998811 (2) |
Search CenterWatch for drugs/clinical trials and news about EZH2
|
Transcripts
for EZH2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for EZH2 gene (5 alternative transcripts): NM_001203247.1 NM_001203248.1 NM_001203249.1 NM_004456.4 NM_152998.2 Unigene Cluster for EZH2: Enhancer of zeste homolog 2 (Drosophila) Hs.444082 [show with all ESTs]Unigene Representative Sequence: NM_00445612 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000492143(uc022aov.1 uc003wfd.2 uc003wfc.2 uc011kuh.2 uc011kui.2)
ENST00000478654 ENST00000320356(uc003wfb.2) ENST00000460911 ENST00000350995
ENST00000476773(uc011kug.2) ENST00000483967 ENST00000469631 ENST00000498186
ENST00000483012 ENST00000541220 ENST00000536783(uc011kuj.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EZH2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EZH2 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 5): EZH2 (NM_152998) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EZH2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EZH2 |
Additional cDNA sequence: AK092676.1 AK293239.1 AK302216.1 AK314291.1 AY519465.1 BC010858.2 JF327843.1 U61145.1 X95653.1 19 DOTS entries: DT.100790710 DT.448498 DT.121644086 DT.40191870 DT.428670 DT.91757146 DT.117781 DT.40107008 DT.99993052 DT.40212211 DT.100790711 DT.100790714 DT.95275701 DT.95275707 DT.40116419 DT.40277506 DT.91757139 DT.91821392 DT.99955129 24/250 AceView cDNA sequences (see all 250): AU123508 AI969286 BM456354 BX462271 BQ946546 BM769460 BM792649 BE729850 CR604099 NM_004456 BU184475 NM_152998 AL044975 BM765399 AI953668 BM773510 CD675823 AW068982 BU508767 BU182471 BQ649256 CA390962 BI461298 Z44716
GeneLoc Exon Structure
|
Expression
for EZH2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| EZH2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGTTTGAAA
About this image
See EZH2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EZH2
SOURCE GeneReport for Unigene cluster: Hs.444082
UniProtKB/Swiss-Prot: EZH2_HUMAN, Q15910Tissue specificity: Expressed in many tissues. Overexpressed in numerous tumor types including carcinomas of thebreast, colon, larynx, lymphoma and testis
SABiosciences Expression via Pathway-Focused PCR Arrays including EZH2: | Epigenetic Chromatin Modification Enzymes in human mouse rat | | Stem Cell Transcription Factors in human mouse rat | | Polycomb & Trithorax Complexes in human mouse rat | | Epigenetic Chromatin Remodeling Factors in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EZH2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EZH2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EZH2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EZH2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EZH2 |
Orthologs
for EZH2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for EZH2 gene from 8/31 species (see all 31) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
EZH21 |
enhancer of zeste homolog 2 (Drosophila) |
85.57(n)
96.78(a) |
|
420784 XM_418879.3 XP_418879.3 |
lizard
(Anolis carolinensis) |
Reptilia |
EZH26 |
-- |
96(a) |
1 ↔ 1 |
6(53336734-53412297) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.191362 |
Xenopus laevis enhancer of zeste mRNA, complete cds |
78.66(n) |
|
AF351126.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.37882 |
Transcribed sequence with moderate similarity to protein more |
75.17(n) |
|
BI704424.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
E(z)1 , 3 |
negative regulation of transcription by
homeotic more3
Enhancer of zeste1 |
50(a)3
58.86(n)1
62.36(a)1 |
|
3 67E53
392031 NM_001144460.21 NP_001137932.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
mes-26 |
Histone-lysine N-methyltransferase mes-2 |
20(a) |
possible ortholog |
II(14383900-14388414) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
MEA6EZA16(see all 3) |
histone-lysine N-methyltransferase EZA1(see all 3) |
25(a)22(a)(see all 3) |
many ↔ manymany ↔ many(see all 3) |
1(544783-549202) 4(886600-891955) |
rice
(Oryza sativa) |
Liliopsida |
Os.446862 |
Oryza sativa (japonica cultivar-group) putative curly more |
70.58(n) |
|
NM_185801.1 |
ENSEMBL Gene Tree for EZH2 (if available)
TreeFam Gene Tree for EZH2 (if available) |
Paralogs
for EZH2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for EZH2 gene
- NSD12 EZH12 WHSC12 SUV39H22 WHSC1L12 SETDB22 SETD22 SUV39H12
- EHMT12 EHMT22 SETDB12
3 SIMAP similar genes for EZH2 using alignment to 9 protein entries: EZH2_HUMAN (see all proteins):EZH1 SUV39H2 DKFZp686C08112
EZH2 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for EZH2
PGOHUM00000239072
|
Genomic Variants
for EZH2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for EZH2 (148504475 - 148581414 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for EZH2: --
Human Gene Mutation Database (HGMD): EZH2
Locus Specific Mutation Databases (LSDB): EZH2
| 5/11 SABiosciences Cancer Mutation PCR Assays for EZH2 (see all 11): |
| 5/6 SABiosciences Cancer Mutation PCR Arrays containing EZH2 (see all 6): |
| 1 SABiosciences qBiomarker Copy Number PCR Array containing EZH2: |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EZH2 |
|
Disorders
/ Diseases
for EZH2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
EZH2 for disorders About GeneDecksing
OMIM gene information: 601573
OMIM disorders: --
UniProtKB/Swiss-Prot: EZH2_HUMAN, Q15910
Defects in EZH2 are the cause of Weaver syndrome type 2 (WVS2) [MIM:614421]. WVS2 is a syndrome of acceleratedgrowth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia withcamptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism,prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bonedevelopment is advanced over the rest of the hand
20/73  diseases for EZH2 (see all 73): About MalaCardsb-cell non-hodgkin lymphoma diffuse large b-cell lymphoma non-hodgkin lymphoma central nervous system lymphoma
b-cell lymphomas soft tissue sarcoma squamous cell carcinoma myelomonocytic leukemia
hodgkin's lymphoma weaver syndrome barrett's esophagus chronic myelomonocytic leukemia
adenoid cystic carcinoma oral squamous cell carcinoma mantle cell lymphoma esophageal squamous cell carcinoma
acute promyelocytic leukemia pancreatic ductal adenocarcinoma adult t-cell leukemia transitional cell carcinoma
4 diseases from the University of Copenhagen DISEASES database for EZH2:Prostate cancer Weaver syndrome Leukemia Breast cancer 10/29 Novoseek disease relationships for EZH2 gene (see all 29) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| prostate cancer |
65.8 |
93 |
18095286 (9), 17252556 (6), 16575874 (5), 18159594 (5) (see all 29) |
| aggressiveness |
57.4 |
7 |
19904743 (2), 14500907 (1), 15184867 (1), 18806826 (1) (see all 6) |
| lymphoma mantle-cell |
56.5 |
1 |
11389032 (1) |
| neoplastic transformation |
55 |
5 |
14500907 (1), 20087897 (1), 19723877 (1) |
| cancer |
54.5 |
78 |
19285253 (4), 16330673 (4), 19008416 (4), 18430739 (4) (see all 40) |
| tumors |
49.9 |
109 |
16330673 (5), 17138155 (4), 17541304 (4), 19846140 (4) (see all 50) |
| breast cancer |
38.6 |
62 |
19079346 (5), 19969553 (5), 20385124 (4), 14500907 (3) (see all 22) |
| metastasis |
36 |
21 |
20132185 (2), 16998811 (1), 19904743 (1), 19079346 (1) (see all 14) |
| bladder cancer |
32.8 |
17 |
17138155 (4), 16361539 (4), 16215315 (3), 16012774 (2) |
| metastatic cancer |
30 |
2 |
16963837 (1), 17483039 (1) |
Genetic Association Database (GAD): EZH2
Human Genome Epidemiology (HuGE) Navigator: EZH2 (8 documents)
Export disorders for EZH2 gene to outside databases
|
Publications
for EZH2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for EZH2 gene, integrated from 9 sources (see all 371):
(articles sorted by number of sources associating them with EZH2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2. (PubMed id 8954776)1, 2, 3, 9 Chen H.... Antonarakis S.E. (1996)
- Ezh2 requires PHF1 to efficiently catalyze H3 lysine 27 trimethylation in vivo. (PubMed id 18285464)1, 2, 9 Sarma K....Reinberg D. (2008)
- EZH2 is downstream of the pRB-E2F pathway, essential for proliferation and amplified in cancer. (PubMed id 14532106)1, 2, 9 Bracken A.P.... Helin K. (2003)
- Activated p53 suppresses the histone methyltransferase EZH2 gene. (PubMed id 15208672)1, 2, 9 Tang X....Rotter V. (2004)
- Histone deacetylase inhibitors deplete enhancer of zeste 2 and associated polycomb repressive complex 2 proteins in human acute leukemia cells. (PubMed id 17172412)1, 3, 9 Fiskus W....Bhalla K. (2006)
- Akt-mediated phosphorylation of EZH2 suppresses methylation of lysine 27 in histone H3. (PubMed id 16224021)1, 2, 9 Cha T.-L.... Hung M.-C. (2005)
- Somatic mutations altering EZH2 (Tyr641) in follicula r and diffuse large B-cell lymphomas of germinal-center origin. (PubMed id 20081860)1, 2, 9 Morin R.D....Marra M.A. (2010)
- Mutation screen and association study of EZH2 as a susceptibility gene for aggressive prostate cancer. (PubMed id 16015586)1, 4, 9 Bachmann N....Maier C. (2005)
- Interaction of Vav with ENX-1, a putative transcriptional regulator of homeobox gene expression. (PubMed id 8649418)1, 2, 9 Hobert O.... Ullrich A. (1996)
- The polycomb repressive complex 2 is a potential target of SUMO modifications. (PubMed id 18628979)1, 2, 9 Riising E.M....Pasini D. (2008)
|
External Searches for EZH2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing EZH2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing EZH2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing EZH2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for EZH2 gene:
Search GeneIP for patents involving EZH2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for EZH2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for EZH2 | | OriGene shRNA RFP for EZH2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EZH2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EZH2 | | | OriGene Protein Over-expression Lysate for EZH2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for EZH2 | | OriGene 3'-UTR Clone for EZH2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EZH2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EZH2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for EZH2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for EZH2 | | OriGene Custom Protein Services for EZH2 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat EZH2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EZH2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EZH2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EZH2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EZH2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EZH2 |
| |
 |  |  |  | |
| | Antibodies & Assays for EZH2 |
| | | | Search Tocris compounds for EZH2 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | EZH2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EZH2 |
|  |  |  | | | | ThermoFisher Antibody for EZH2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EZH2 |
|
|
|
|
