• Gene id: 2146

Gene Summary

• Gene Symbol: EZH2   Gene   UCSC   Ensembl
• Aliases: ENX-1, ENX1, EZH2b, KMT6, KMT6A, WVS, WVS2
• Gene name: enhancer of zeste 2 polycomb repressive complex 2 subunit
• Alternate names: histone-lysine N-methyltransferase EZH2, enhancer of zeste homolog 2, lysine N-methyltransferase 6,
• Gene location: 7q36.1 (148884348: 148807371)     Exons: 25     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 601573

Protein Summary

• Protein general information: Q15910  
  • Name: Histone lysine N methyltransferase EZH2 (EC 2.1.1.43) (ENX 1) (Enhancer of zeste homolog 2) (Lysine N methyltransferase 6)
  • Length: 746  
  • Mass: 85,363
• Sequence:

  MGQTGKKSEKGPVCWRKRVKSEYMRLRQLKRFRRADEVKSMFSSNRQKILERTEILNQEWKQRRIQPVHILTSVS
  SLRGTRECSVTSDLDFPTQVIPLKTLNAVASVPIMYSWSPLQQNFMVEDETVLHNIPYMGDEVLDQDGTFIEELI
  KNYDGKVHGDRECGFINDEIFVELVNALGQYNDDDDDDDGDDPEEREEKQKDLEDHRDDKESRPPRKFPSDKIFE
  AISSMFPDKGTAEELKEKYKELTEQQLPGALPPECTPNIDGPNAKSVQREQSLHSFHTLFCRRCFKYDCFLHPFH
  ATPNTYKRKNTETALDNKPCGPQCYQHLEGAKEFAAALTAERIKTPPKRPGGRRRGRLPNNSSRPSTPTINVLES
  KDTDSDREAGTETGGENNDKEEEEKKDETSSSSEANSRCQTPIKMKPNIEPPENVEWSGAEASMFRVLIGTYYDN
  FCAIARLIGTKTCRQVYEFRVKESSIIAPAPAEDVDTPPRKKKRKHRLWAAHCRKIQLKKDGSSNHVYNYQPCDH
  PRQPCDSSCPCVIAQNFCEKFCQCSSECQNRFPGCRCKAQCNTKQCPCYLAVRECDPDLCLTCGAADHWDSKNVS
  CKNCSIQRGSKKHLLLAPSDVAGWGIFIKDPVQKNEFISEYCGEIISQDEADRRGKVYDKYMCSFLFNLNNDFVV
  DATRKGNKIRFANHSVNPNCYAKVMMVNGDHRIGIFAKRAIQTGEELFFDYRYSQADALKYVGIEREMEIP

• Structural information:
  • Protein Domains: CXC. (503-605)
    SET. (612-727)
  • Interpro: IPR026489  IPR021654  IPR001005  IPR001214  IPR033467  
  • Prosite: PS51633 PS50280
  • CDD: cd00167
  • PDB: 2C6V 4MI0 4MI5 5GSA 5H14 5H15 5H17 5H19 5H24 5H25 5HYN 5IJ7 5IJ8 5LS6 5U5T 5U62 5WUK 6C23 6C24
  • PDBsum: 2C6V 4MI0 4MI5 5GSA 5H14 5H15 5H17 5H19 5H24 5H25 5HYN 5IJ7 5IJ8 5LS6 5U5T 5U62 5WUK 6C23 6C24
  • DIP: 34002
  • STRING: ENSP00000320147
• Other Databases: GeneCards:  EZH2  Malacards:  EZH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0001047	core promoter binding	ISS	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006306	DNA methylation	IEA	biological process
GO:0006325	chromatin organization	TAS	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0014013	regulation of gliogenesis	IEA	biological process
GO:0014834	skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration	IEA	biological process
GO:0016279	protein-lysine N-methyltransferase activity	TAS	molecular function
GO:0016279	protein-lysine N-methyltransferase activity	TAS	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IDA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	TAS	molecular function
GO:0021695	cerebellar cortex development	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0032355	response to estradiol	IEA	biological process
GO:0034244	negative regulation of transcription elongation from RNA polymerase II promoter	IEA	biological process
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0042054	histone methyltransferase activity	IDA	molecular function
GO:0042127	regulation of cell proliferation	IEA	biological process
GO:0042752	regulation of circadian rhythm	IMP	biological process
GO:0043021	ribonucleoprotein complex binding	IEA	molecular function
GO:0043406	positive regulation of MAP kinase activity	IDA	biological process
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045120	pronucleus	IEA	cellular component
GO:0045605	negative regulation of epidermal cell differentiation	IEA	biological process
GO:0045814	negative regulation of gene expression, epigenetic	IDA	biological process
GO:0045814	negative regulation of gene expression, epigenetic	IMP	biological process
GO:0045814	negative regulation of gene expression, epigenetic	TAS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0046976	histone methyltransferase activity (H3-K27 specific)	TAS	molecular function
GO:0048387	negative regulation of retinoic acid receptor signaling pathway	IMP	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0051154	negative regulation of striated muscle cell differentiation	IEA	biological process
GO:0070301	cellular response to hydrogen peroxide	IEA	biological process
GO:0070314	G1 to G0 transition	IEA	biological process
GO:0070734	histone H3-K27 methylation	IDA	biological process
GO:0071168	protein localization to chromatin	IEA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IDA	biological process
GO:1900006	positive regulation of dendrite development	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IDA	molecular function
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000975	regulatory region DNA binding	IEA	molecular function
GO:0001047	core promoter binding	IEA	molecular function
GO:0001047	core promoter binding	ISS	molecular function
GO:0001932	regulation of protein phosphorylation	IEA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006306	DNA methylation	IEA	biological process
GO:0006325	chromatin organization	TAS	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0014013	regulation of gliogenesis	IEA	biological process
GO:0014834	skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration	IEA	biological process
GO:0016279	protein-lysine N-methyltransferase activity	IEA	molecular function
GO:0016279	protein-lysine N-methyltransferase activity	TAS	molecular function
GO:0016279	protein-lysine N-methyltransferase activity	TAS	molecular function
GO:0016571	histone methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IDA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	TAS	molecular function
GO:0021695	cerebellar cortex development	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0031490	chromatin DNA binding	IEA	molecular function
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0034244	negative regulation of transcription elongation from RNA polymerase II promoter	IEA	biological process
GO:0035098	ESC/E(Z) complex	IEA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0042054	histone methyltransferase activity	IEA	molecular function
GO:0042054	histone methyltransferase activity	IDA	molecular function
GO:0042127	regulation of cell proliferation	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0042752	regulation of circadian rhythm	IMP	biological process
GO:0043021	ribonucleoprotein complex binding	IEA	molecular function
GO:0043406	positive regulation of MAP kinase activity	IDA	biological process
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045120	pronucleus	IEA	cellular component
GO:0045605	negative regulation of epidermal cell differentiation	IEA	biological process
GO:0045814	negative regulation of gene expression, epigenetic	IDA	biological process
GO:0045814	negative regulation of gene expression, epigenetic	IMP	biological process
GO:0045814	negative regulation of gene expression, epigenetic	TAS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0046976	histone methyltransferase activity (H3-K27 specific)	TAS	molecular function
GO:0048387	negative regulation of retinoic acid receptor signaling pathway	IMP	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0050767	regulation of neurogenesis	IEA	biological process
GO:0051154	negative regulation of striated muscle cell differentiation	IEA	biological process
GO:0070301	cellular response to hydrogen peroxide	IEA	biological process
GO:0070314	G1 to G0 transition	IEA	biological process
GO:0070734	histone H3-K27 methylation	IEA	biological process
GO:0070734	histone H3-K27 methylation	IDA	biological process
GO:0071168	protein localization to chromatin	IEA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IDA	biological process
GO:1900006	positive regulation of dendrite development	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IDA	molecular function
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0001047	core promoter binding	ISS	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006325	chromatin organization	TAS	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0016279	protein-lysine N-methyltransferase activity	TAS	molecular function
GO:0016279	protein-lysine N-methyltransferase activity	TAS	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IDA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	TAS	molecular function
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0042054	histone methyltransferase activity	IDA	molecular function
GO:0042752	regulation of circadian rhythm	IMP	biological process
GO:0043406	positive regulation of MAP kinase activity	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0045814	negative regulation of gene expression, epigenetic	IDA	biological process
GO:0045814	negative regulation of gene expression, epigenetic	IMP	biological process
GO:0045814	negative regulation of gene expression, epigenetic	TAS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0046976	histone methyltransferase activity (H3-K27 specific)	TAS	molecular function
GO:0048387	negative regulation of retinoic acid receptor signaling pathway	IMP	biological process
GO:0070734	histone H3-K27 methylation	IDA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IDA	biological process
GO:1990841	promoter-specific chromatin binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05206	MicroRNAs in cancer

Diseases

Associated diseases	References
Cancer (prostate)	GAD: 16015586
Cancer (lung)	GAD: 19901851
Follicular lymphoma	KEGG: H01613
Cancer	GAD: 19074885
Cancer (leukemia)	GAD: 19074885
Endometriosis	INFBASE: 25820690
Male factor infertility	MIK: 20043168
Spermatogenesis defects	MIK: 20043168
Important for epigenetic reprogramming during spermatogenesis	MIK: 19471314
Important for epigenetic reprogramming during spermatogenesis	INFBASE: 19471314
Weaver syndrome	KEGG: H01751
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Important for epigenetic reprogramming during spermatogenesis.	MIK: 19471314
Meiotic arrest in spermatocytes	MIK: 28254491
Spermatogenic disorders	MIK: 20043168
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20043168	Spermatogenic disorders			168 (64 seminomas 36 non-seminomas, 4 carcinomas in situ (CIS), 40 samples harboring impaired spermatogenesis, 24 normal testicular reference biopsies)	Male infertility
19471314	Important for epigenetic reprogramming during spermatogenesis.				Male infertility	MBD1 and MBD2 isoforms MBD3L1 SUVH39H2 BRDT and EZH2
28254491	Meiotic arrest in spermatocytes				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray