Endometriosis Knowledgebase

Search Result

Gene id

2146

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

EZH2 Gene UCSC Ensembl

Aliases

ENX-1, ENX1, EZH1, 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 (148884661: 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 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]

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

Tissue specificity: Expressed in many tissues. Overexpressed in numerous tumor types including carcinomas of the breast, colon, larynx, lymphoma and testis. {ECO

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
Pfam:	PF11616 PF00856
PDB:	2C6V 4MI0 4MI5 5GSA 5H14 5H15 5H17 5H19 5H24 5H25 5HYN 5IJ7 5IJ8 5LS6 5U5T 5U62
PDBsum:	2C6V 4MI0 4MI5 5GSA 5H14 5H15 5H17 5H19 5H24 5H25 5HYN 5IJ7 5IJ8 5LS6 5U5T 5U62
DIP:	34002
MINT:	1371596
STRING:	ENSP00000320147;

Other Databases

GeneCards: EZH2; Malacards: EZH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase 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-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	TAS	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IDA	biological_process
GO:0014013	regulation of gliogenesis	IEA	biological_process
GO:0014834	skeletal muscle satellite cell maintenance involve d in skeletal muscle rege neration	IEA	biological_process
GO:0016279	protein-lysine N-methyltr ansferase activity	TAS	molecular_function
GO:0016279	protein-lysine N-methyltr ansferase activity	TAS	molecular_function
GO:0018024	histone-lysine N-methyltr ansferase activity	IDA	molecular_function
GO:0018024	histone-lysine N-methyltr ansferase activity	TAS	molecular_function
GO:0021695	cerebellar cortex develop ment	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 tr anscription elongation fr om RNA polymerase II prom oter	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 prolif eration	IEA	biological_process
GO:0042752	regulation of circadian r hythm	IMP	biological_process
GO:0043021	ribonucleoprotein complex binding	IEA	molecular_function
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043433	negative regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IEA	biological_process
GO:0043547	positive regulation of GT Pase activity	IDA	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0045120	pronucleus	IEA	cellular_component
GO:0045605	negative regulation of ep idermal cell differentiat ion	IEA	biological_process
GO:0045814	negative regulation of ge ne expression, epigenetic	IDA	biological_process
GO:0045814	negative regulation of ge ne expression, epigenetic	IMP	biological_process
GO:0045814	negative regulation of ge ne expression, epigenetic	TAS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0046976	histone methyltransferase activity (H3-K27 specifi c)	TAS	molecular_function
GO:0048387	negative regulation of re tinoic acid receptor sign aling pathway	IMP	biological_process
GO:0048511	rhythmic process	IEA	biological_process
GO:0051154	negative regulation of st riated muscle cell differ entiation	IEA	biological_process
GO:0070301	cellular response to hydr ogen peroxide	IEA	biological_process
GO:0070314	G1 to G0 transition	IEA	biological_process
GO:0070734	histone H3-K27 methylatio n	IDA	biological_process
GO:0071168	protein localization to c hromatin	IEA	biological_process
GO:0071902	positive regulation of pr otein serine/threonine ki nase activity	IDA	biological_process
GO:1900006	positive regulation of de ndrite development	IEA	biological_process
GO:1990841	promoter-specific chromat in binding	IDA	molecular_function
GO:2000134	negative regulation of G1 /S transition of mitotic cell cycle	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000790	nuclear chromatin	IEA	cellular_component
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0000975	regulatory region DNA bin ding	IEA	molecular_function
GO:0001047	core promoter binding	IEA	molecular_function
GO:0001047	core promoter binding	ISS	molecular_function
GO:0001932	regulation of protein pho sphorylation	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-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	TAS	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IEA	biological_process
GO:0008168	methyltransferase activit y	IEA	molecular_function
GO:0010468	regulation of gene expres sion	IEA	biological_process
GO:0010629	negative regulation of ge ne expression	IEA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IDA	biological_process
GO:0014013	regulation of gliogenesis	IEA	biological_process
GO:0014834	skeletal muscle satellite cell maintenance involve d in skeletal muscle rege neration	IEA	biological_process
GO:0016279	protein-lysine N-methyltr ansferase activity	IEA	molecular_function
GO:0016279	protein-lysine N-methyltr ansferase activity	TAS	molecular_function
GO:0016279	protein-lysine N-methyltr ansferase activity	TAS	molecular_function
GO:0016571	histone methylation	IEA	biological_process
GO:0016740	transferase activity	IEA	molecular_function
GO:0018024	histone-lysine N-methyltr ansferase activity	IEA	molecular_function
GO:0018024	histone-lysine N-methyltr ansferase activity	IEA	molecular_function
GO:0018024	histone-lysine N-methyltr ansferase activity	IDA	molecular_function
GO:0018024	histone-lysine N-methyltr ansferase activity	TAS	molecular_function
GO:0021695	cerebellar cortex develop ment	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 tr anscription elongation fr om RNA polymerase II prom oter	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 prolif eration	IEA	biological_process
GO:0042752	regulation of circadian r hythm	IEA	biological_process
GO:0042752	regulation of circadian r hythm	IMP	biological_process
GO:0043021	ribonucleoprotein complex binding	IEA	molecular_function
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043433	negative regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IEA	biological_process
GO:0043547	positive regulation of GT Pase activity	IDA	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0045120	pronucleus	IEA	cellular_component
GO:0045605	negative regulation of ep idermal cell differentiat ion	IEA	biological_process
GO:0045814	negative regulation of ge ne expression, epigenetic	IDA	biological_process
GO:0045814	negative regulation of ge ne expression, epigenetic	IMP	biological_process
GO:0045814	negative regulation of ge ne expression, epigenetic	TAS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0046976	histone methyltransferase activity (H3-K27 specifi c)	TAS	molecular_function
GO:0048387	negative regulation of re tinoic acid receptor sign aling pathway	IMP	biological_process
GO:0048511	rhythmic process	IEA	biological_process
GO:0050767	regulation of neurogenesi s	IEA	biological_process
GO:0051154	negative regulation of st riated muscle cell differ entiation	IEA	biological_process
GO:0070301	cellular response to hydr ogen peroxide	IEA	biological_process
GO:0070314	G1 to G0 transition	IEA	biological_process
GO:0070734	histone H3-K27 methylatio n	IEA	biological_process
GO:0070734	histone H3-K27 methylatio n	IDA	biological_process
GO:0071168	protein localization to c hromatin	IEA	biological_process
GO:0071902	positive regulation of pr otein serine/threonine ki nase activity	IDA	biological_process
GO:1900006	positive regulation of de ndrite development	IEA	biological_process
GO:1990841	promoter-specific chromat in binding	IDA	molecular_function
GO:2000134	negative regulation of G1 /S transition of mitotic cell cycle	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase 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 transcripti on, DNA-templated	TAS	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IDA	biological_process
GO:0016279	protein-lysine N-methyltr ansferase activity	TAS	molecular_function
GO:0016279	protein-lysine N-methyltr ansferase activity	TAS	molecular_function
GO:0018024	histone-lysine N-methyltr ansferase activity	IDA	molecular_function
GO:0018024	histone-lysine N-methyltr ansferase 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 r hythm	IMP	biological_process
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043547	positive regulation of GT Pase activity	IDA	biological_process
GO:0045814	negative regulation of ge ne expression, epigenetic	IDA	biological_process
GO:0045814	negative regulation of ge ne expression, epigenetic	IMP	biological_process
GO:0045814	negative regulation of ge ne expression, epigenetic	TAS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0046976	histone methyltransferase activity (H3-K27 specifi c)	TAS	molecular_function
GO:0048387	negative regulation of re tinoic acid receptor sign aling pathway	IMP	biological_process
GO:0070734	histone H3-K27 methylatio n	IDA	biological_process
GO:0071902	positive regulation of pr otein serine/threonine ki nase activity	IDA	biological_process
GO:1990841	promoter-specific chromat in binding	IDA	molecular_function

KEGG pathways

hsa05206 MicroRNAs in cancer
hsa00310 Lysine degradation

Diseases

Associated diseases	References
Cancer	PMID: 19074885
Endometrial cancer	PMID: 21914347
Endometriosis	PMID: 25820690
Follicular lymphoma	KEGG: H01613
Endometriosis	INFBASE25820690
Spermatogenetic defects	PMID: 20043168
Weaver syndrome	KEGG: H01751

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25820690	Endometrio sis					H3K27me3 EZH2	Show abstract
28754964	Endometrio sis					PRC2	Show abstract