EZH2

EZH2
Estructuras disponibles
PDB	Búsqueda ortóloga: PDBe RCSB
Lista de codigos id de PDB
	4MI0, 4MI5, 5HYN, 5IJ8, 5IJ7
Identificadores
Alias	EZH2, ENX-1, ENX1, EZH1, EZH2b, KMT6, KMT6A, WVS, WVS2, enhancer of zeste 2 polycomb repressive complex 2 subunit
IDs externos	OMIM: 601573 MGI: 107940 HomoloGene: 37926 GeneCards: EZH2
EC number	2.1.1.356
Enfermedades genéticamente relacionadas
	síndrome de Weaver
Targeted by Drug
	gsk-2816126, Tazemetostat
Ontología génica
Función molecular	• GO:0102674, GO:0102675 methyltransferase activity; • sequence-specific DNA binding; • transferase activity; • promoter-specific chromatin binding; • chromatin binding; • histone-lysine N-methyltransferase activity; • protein-lysine N-methyltransferase activity; • GO:0001948, GO:0016582 unión a proteína plasmática; • unión a ARN (RNA); • ribonucleoprotein complex binding; • chromatin DNA binding; • RNA polymerase II core promoter sequence-specific DNA binding; • primary miRNA binding; • DNA binding; • histone methyltransferase activity; • histone methyltransferase activity (H3-K27 specific); • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific; • GO:0001106 transcription corepressor activity;
Componente celular	• ESC/E(Z) complex; • Pronúcleo; • núcleo celular; • Nucleoplasma; • citoplasma; • telómero;
Proceso biológico	• regulation of protein phosphorylation; • regulation of gliogenesis; • response to estradiol; • GO:0009373 regulation of transcription, DNA-templated; • positive regulation of MAP kinase activity; • proceso rítmico; • negative regulation of retinoic acid receptor signaling pathway; • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II; • negative regulation of striated muscle cell differentiation; • G1 to G0 transition; • GO:1901227 negative regulation of transcription by RNA polymerase II; • positive regulation of dendrite development; • positive regulation of epithelial to mesenchymal transition; • negative regulation of transcription elongation from RNA polymerase II promoter; • transcription, DNA-templated; • negative regulation of DNA-binding transcription factor activity; • positive regulation of protein serine/threonine kinase activity; • negative regulation of gene expression; • GO:1990376 negative regulation of G1/S transition of mitotic cell cycle; • histone H3-K27 methylation; • GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity; • metilación del ADN; • negative regulation of epidermal cell differentiation; • metilación; • negative regulation of gene expression, epigenetic; • regulation of cell population proliferation; • regulation of circadian rhythm; • skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration; • cerebellar cortex development; • regulación de la expresión génica; • GO:0045996 negative regulation of transcription, DNA-templated; • protein localization to chromatin; • hippocampus development; • regulation of neurogenesis; • cellular response to hydrogen peroxide; • response to tetrachloromethane; • cellular response to trichostatin A; • histone H3-K27 trimethylation; • cardiac muscle hypertrophy in response to stress; • hepatocyte homeostasis; • regeneración hepática; • histone methylation; • negative regulation of G0 to G1 transition; • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization; • positive regulation of cell population proliferation; • positive regulation of cell cycle G1/S phase transition;
	Fuentes: Amigo / QuickGO
Patrón de la expressión del ARN
	Más referencias a datos de expressión
Ortólogos
	2146
	14056
	ENSG00000106462
	ENSMUSG00000029687
	Q15910
	Q61188
	NM_001203247; NM_001203248; NM_001203249; NM_004456; NM_152998
	NM_001146689; NM_007971
	NP_001190176; NP_001190177; NP_001190178; NP_004447; NP_694543
	NP_001140161; NP_031997
	Wikidata
Ver/Editar Humano	Ver/Editar Ratón

La histona-lisina metiltransferasa EZH2 (EZH2) es una enzima codificada en humanos por el gen EZH2.

La proteína EZH2 pertenece a la familia del grupo Polycomb (PcG). Los miembros de la familia PcG forman complejos proteicos multiméricos que están implicados en el mantenimiento de la represión transcripcional de determinados genes a lo largo de generaciones sucesivas de división celular. La proteína EZH2 actúa como un silenciador de genes, añadiendo grupos metilo al residuo 27 de lisina de la histona 3, una modificación que conduce a la condensación de la cromatina.

EZH2 se asocia con la proteína de desarrollo ectodérmico del embrión, la oncoproteína VAV1 y la proteína ATRX. Esta proteína podría desempeñar un papel en la hematopoyesis y en el sistema nervioso central. Se han descrito dos variantes transcripcionales de este gen, que codifican diferentes isoformas de la proteína.

Interacciones

La proteína EZH2 ha demostrado ser capaz de interaccionar con:

Significación clínica

Existen 1167 enfermedades descritas que coinciden con EZH2(p.e.:leucemia mieloide aguda )

Referencias

↑ «Diseases that are genetically associated with EZH2 view/edit references on wikidata».
↑ «Drugs that physically interact with Enhancer of zeste 2 polycomb repressive complex 2 subunit view/edit references on wikidata».
↑ «Human PubMed Reference:».
↑ «Mouse PubMed Reference:».
↑ Chen H, Rossier C, Antonarakis SE (Mar de 1997). «Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2». Genomics 38 (1): 30-7. PMID 8954776. doi:10.1006/geno.1996.0588.
↑ Fiskus W, Pranpat M, Balasis M, Herger B, Rao R, Chinnaiyan A, Atadja P, Bhalla K (Dec de 2006). «Histone deacetylase inhibitors deplete enhancer of zeste 2 and associated polycomb repressive complex 2 proteins in human acute leukemia cells». Mol Cancer Ther 5 (12): 3096-104. PMID 17172412. doi:10.1158/1535-7163.MCT-06-0418.
↑ Cao R, Wang L, Wang H, Xia L, Erdjument-Bromage H, Tempst P, Jones RS, Zhang Y. (NOV de 2002). «Role of histone H3 lysine 27 methylation in Polycomb-group silencing». Science 298 (5595): 1039-43. PMID 12351676. doi:10.1126/science.1076997.
↑ «Entrez Gene: EZH2 enhancer of zeste homolog 2 (Drosophila)».
1 2 3 van der Vlag, J; Otte A P (Dec. de 1999). «Transcriptional repression mediated by the human polycomb-group protein EED involves histone deacetylation». Nat. Genet. (UNITED STATES) 23 (4): 474-8. ISSN 1061-4036. PMID 10581039. doi:10.1038/70602.
↑ van Lohuizen, M; Tijms M, Voncken J W, Schumacher A, Magnuson T, Wientjens E (Jun. de 1998). «Interaction of mouse polycomb-group (Pc-G) proteins Enx1 and Enx2 with Eed: indication for separate Pc-G complexes». Mol. Cell. Biol. (UNITED STATES) 18 (6): 3572-9. ISSN 0270-7306. PMID 9584197.
↑ Denisenko, O; Shnyreva M; Suzuki H; Bomsztyk K (Oct. de 1998). «Point mutations in the WD40 domain of Eed block its interaction with Ezh2». Mol. Cell. Biol. (UNITED STATES) 18 (10): 5634-42. ISSN 0270-7306. PMID 9742080.
↑ Hobert, O; Jallal B; Ullrich A (Jun. de 1996). «Interaction of Vav with ENX-1, a putative transcriptional regulator of homeobox gene expression». Mol. Cell. Biol. (UNITED STATES) 16 (6): 3066-73. ISSN 0270-7306. PMID 8649418.
↑ Cardoso, C; Timsit S, Villard L, Khrestchatisky M, Fontès M, Colleaux L (Apr. de 1998). «Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein». Hum. Mol. Genet. (ENGLAND) 7 (4): 679-84. ISSN 0964-6906. PMID 9499421.
↑ «MalaCards». Consultado el 13 de enero de 2026.
↑ «DISEASES - EZH2». diseases.jensenlab.org. Consultado el 13 de enero de 2026.