Version: 8.0.0Date: Tue Jan 28 2025
Gene
EZH2
- Species
- Homo sapiens
- Symbol
- EZH2
- Name
- enhancer of zeste 2 polycomb repressive complex 2 subunit
- Synonyms
- enhancer of zeste 2
- enhancer of zeste homolog 2
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including nucleic acid binding activity; promoter-specific chromatin binding activity; and transcription corepressor binding activity. Involved in several processes, including negative regulation of macromolecule biosynthetic process; positive regulation of cell cycle G1/S phase transition; and regulation of intracellular signal transduction. Located in chromatin; chromosome, telomeric region; and nucleoplasm. Part of ESC/E(Z) complex. Is active in chromosome. Implicated in several diseases, including Weaver syndrome; gastrointestinal system cancer (multiple); glioblastoma; hematologic cancer (multiple); and renal Wilms' tumor. Biomarker of several diseases, including abdominal aortic aneurysm; colorectal adenoma; gastrointestinal system cancer (multiple); hematologic cancer (multiple); and respiratory system cancer (multiple).
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR45747
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr7:148807257...148884321 - (77.06 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.