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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. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
EZH2 (Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit) is a Protein Coding gene. Diseases associated with EZH2 include Weaver Syndrome and Mantle Cell Lymphoma. Among its related pathways are Lysine degradation and PKMTs methylate histone lysines. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and chromatin binding. An important paralog of this gene is EZH1.
Lysine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the lysine residues on histones, particularly histones H3 and H4. The dysregulation of this methylation is critical in the development of cancer.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | ISS | -- |
GO:0000979 | RNA polymerase II core promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003677 | DNA binding | TAS | 8954776 |
GO:0003682 | chromatin binding | IDA | 20154697 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000781 | chromosome, telomeric region | IGI | 9214638 |
GO:0000790 | nuclear chromatin | IDA | 19734898 |
GO:0005634 | nucleus | IDA | 19144645 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 20154697 |
GO:0001932 | regulation of protein phosphorylation | IEA | -- |
GO:0006306 | DNA methylation | IEA | -- |
GO:0006325 | chromatin organization | TAS | -- |
GO:0006348 | chromatin silencing at telomere | IGI | 9214638 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Tazemetostat | Approved, Investigational | Pharma | Target, inhibitor | 0 | ||
D-Lysine | Approved, Experimental | Nutra | Agonist, Full agonist | 0 | ||
s-adenosylhomocysteine | Experimental | Pharma | 0 | |||
CPI-1205 | Investigational | Pharma | Target, inhibitor | 0 | ||
EI1 | Pharma | EZH2 inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
s-adenosylmethionine |
|
485-80-3 |
|
Compound | Action | Cas Number |
---|---|---|
3-Deazaneplanocin A (DZNep) hydrochloride | SAHH and ENZ2 inhibitor | 120964-45-6 |
3-Deazaneplanocin,DZNep | Cell-permeable histone methyltransferase inhibitor | 102052-95-9 |
CPI-169 | EZH2 inhibitor | 1450655-76-1 |
EI1 | EZH2 inhibitor | 1418308-27-6 |
EPZ005687 | EZH2 inhibitor,potent and selective | 1396772-26-1 |
EPZ-6438 | EZH2 inhibitor,potent and selective | 1403254-99-8 |
GSK126 | EZH2 inhibitor | 1346574-57-9 |
GSK343 | EZH2 inhibitor,potent,selective and cell permeable | 1346704-33-3 |
GSK503 | EZH2 inhibitor | 1346572-63-1 |
UNC 2400 | negative control of UNC1999 | 1433200-49-7 |
UNC1999 | EZH2 inhibitor | 1431612-23-5 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EZH2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | EZH2 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ezh2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ezh2 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EZH2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EZH2 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EZH2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EZH2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ezh2 30 |
|
||
Str.1297 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.19136 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ezh2 30 31 |
|
OneToOne | |
Dr.3788 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9957 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012516 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | E(z) 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | mes-2 31 |
|
OneToMany | |
Barley (Hordeum vulgare) |
Liliopsida | Hv.508 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os.44686 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1039 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636330 | Uncertain Significance: Weaver syndrome | 148,807,668(-) | T/C | MISSENSE_VARIANT | |
640527 | Likely Pathogenic: Weaver syndrome | 148,809,134(-) | T/A | MISSENSE_VARIANT | |
642027 | Uncertain Significance: Weaver syndrome | 148,828,742(-) | T/C | MISSENSE_VARIANT | |
643660 | Likely Pathogenic: Weaver syndrome | 148,807,704(-) | T/TATCTGAAACAAC | SPLICE_ACCEPTOR_VARIANT | |
648972 | Likely Pathogenic: Weaver syndrome | 148,809,079(-) | A/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3990e59 | CNV | tandem duplication | 20981092 |
esv1004063 | CNV | insertion | 20482838 |
esv3361481 | CNV | duplication | 20981092 |
esv3542623 | CNV | deletion | 23714750 |
esv3572292 | CNV | loss | 25503493 |
nsv1128373 | CNV | deletion | 24896259 |
nsv522305 | CNV | loss | 19592680 |
nsv831183 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
weaver syndrome |
|
|
mantle cell lymphoma |
|
|
chronic myelomonocytic leukemia |
|
|
primary cutaneous follicle center lymphoma |
|
|
ezh2-related overgrowth |
|
|