EZH2

La histona-lisina metiltransferasa EZH2 (EZH2) es una enzima codificada en humanos por el gen EZH2.^[5][6]

PDBBúsqueda ortóloga: PDBe RCSB

AliasEZH2, ENX-1, ENX1, EZH1, EZH2b, KMT6, KMT6A, WVS, WVS2, enhancer of zeste 2 polycomb repressive complex 2 subunit

IDs externosOMIM: 601573 MGI: 107940 HomoloGene: 37926 GeneCards: EZH2

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

Datos rápidos Estructuras disponibles, PDB ...

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
Enfermedades genéticamente relacionadas
síndrome de Weaver[1]
Targeted by Drug
gsk-2816126, Tazemetostat[2]
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
Especies	Humano	Ratón
Entrez	2146	14056
Ensembl	ENSG00000106462	ENSMUSG00000029687
UniProt	Q15910	Q61188
SeqRef (ARNm)	NM_001203247 NM_001203248 NM_001203249 NM_004456 NM_152998	NM_001146689 NM_007971
SeqRef (proteina)	NP_001190176 NP_001190177 NP_001190178 NP_004447 NP_694543	NP_001140161 NP_031997
Localización (UCSC)	n/a	n/a
Búsqueda en PubMed	[3]	[4]
Wikidata
Ver/Editar Humano		Ver/Editar Ratón

Cerrar

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.^[7]

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.^[8]