EZH2 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | EZH2 |
| Official Name | enhancer of zeste 2 polycomb repressive complex 2 subunit [Source:HGNC Symbol;Acc:HGNC:3527] |
| Ensembl ID | ENSG00000106462 |
| Bio databases IDs | |
| Aliases | enhancer of zeste 2 polycomb repressive complex 2 subunit |
| Synonyms | EHZ2, enhancer of zeste 2 polycomb repressive complex 2 subunit, ENX-1, Enx1h, EZH2b, KMT6, KMT6A, mKIAA4065, WVS, WVS2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EZH2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- SET binding domain
- transcription co-repressor
- transcription activation domain
- transcription factor binding
- chromatin binding
- CXC motif
- histone lysine N-methyltransferase activity (H3-K27 specific)
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- ribonucleoprotein binding
- cysteine rich domain
- histone binding
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- nucleic acid binding
- CXC domain
- nuclear localization sequence
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA binding
- protein-lysine N-methyltransferase
- histone methyltransferase
- Polycomb repressive complex 2 tri-helical domain
- binding protein
- double-stranded DNA binding
- WD repeat binding protein EZH2
Pathways
Biological processes and signaling networks where the EZH2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- experimental autoimmune encephalomyelitis
- metastasis
- myeloproliferative neoplasm
- myeloproliferative disorder
- cancer
- epithelial cancer
- epithelial neoplasia
- lymphomagenesis
- hematologic cancer
- hematological neoplasia
role in cell
- proliferation
- apoptosis
- transactivation in
- synthesis in
- expression in
- production in
- activation in
- phosphorylation in
- binding in
- cell death
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- insoluble fractions
- Cytoplasm
- Mitochondria
- cytosol
- chromosome
- nucleoplasm
- pronucleus
- centromeres
- telomeres
- chromatin
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EZH2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of MAP kinase activity
- protein modification process
- positive regulation of cell proliferation
- negative regulation of cytokine production involved in inflammatory response
- regulation of circadian rhythm
- chromatin organization
- cerebellar cortex development
- positive regulation of GTPase activity
- negative regulation of transcription from RNA polymerase II promoter
- positive regulation of epithelial to mesenchymal transition
- stem cell differentiation
- negative regulation of transcription, DNA-dependent
- G1/S transition of mitotic cell cycle
- negative regulation of stem cell differentiation
- negative regulation of retinoic acid receptor signaling pathway
- negative regulation of G1/S transition of mitotic cell cycle
- satellite cell maintenance involved in skeletal muscle regeneration
- cellular response to hydrogen peroxide
- cardiac muscle hypertrophy in response to stress
- regulation of gliogenesis
- negative regulation of gene expression, epigenetic
- negative regulation of keratinocyte differentiation
- negative regulation of transcription elongation from RNA polymerase II promoter
- B cell differentiation
- regulation of transcription, DNA-dependent
- hippocampus development
- regulation of kidney development
- positive regulation of dendrite development
- keratinocyte differentiation
- rhythmic process
- telomeric heterochromatin assembly
- negative regulation of striated muscle cell differentiation
- protein localization to chromatin
- heterochromatin assembly
- response to estradiol stimulus
- G1 to G0 transition
- synaptic transmission, GABAergic
- cellular response to trichostatin A
- positive regulation of protein serine/threonine kinase activity
- chromatin silencing by small RNA
- methylation
- positive regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- nucleus
- pronucleus
- ESC/E(Z) complex
- synapse
- chromosome
- chromatin
- centromeric heterochromatin
- chromatin silencing complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- RNA polymerase II core promoter sequence-specific DNA binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- chromatin binding
- histone methyltransferase activity (H3-K27 specific)
- transcription corepressor binding
- protein binding
- transcription corepressor activity
- ribonucleoprotein complex binding
- histone methyltransferase activity
- primary miRNA binding
- protein-lysine N-methyltransferase activity