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Symbol EZH2 contributors: mct/shn - updated : 24-05-2017
HGNC name enhancer of zeste homolog 2 (Drosophila)
HGNC id 3527
corresponding disease(s) WVSS2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       gain of function
gain function in mantle lymphoma and in prostate cancer (metastatic)
tumoral     --over  
overexpressed in aggressive breast cancer
tumoral     --over  
in melanoma, prostate, and endometrial carcinoma with invasive growth and aggressive clinical behavior
tumoral     --over  
in Ewing tumors
constitutional       gain of function
at specific stages of spermatogenesis, suggesting that they play an important role in the epigenetic reprogramming during spermatogenesis
tumoral somatic mutation      
ffecting a single tyrosine (Tyr641) in the EZH2 SET domain and have associated these with Follicular lymphoma (FL) and the germinal center B cells subtype of diffuse large B-cell lymphoma (DLBCL)
tumoral somatic mutation      
in myelodysplastic syndromes
tumoral somatic mutation      
EZH2 mutations are independently associated with shorter survival in patients with primary myelofibrosis
tumoral     --other  
aberrant induction of Ezh2 is an early and initiating event in pancreatic carcinogenesis as observed even in proliferative lesions such as dysplasia
tumoral germinal mutation     loss of function
in patients with myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPNs), and MDS/MPN overlap disorders
Susceptibility to myelodisplastic syndrome
Variant & Polymorphism other
  • Y641C mutation has been reported to dramatically reduce enzymatic activity, and is associated to myelodisplastic syndrome
  • Candidate gene prognostic marker in endometrial cancer
    Therapy target
    EZH2 and EZH2-mediated events are promising novel targets for Ewing tumor therapy
    may provide a prime target to prevent and/or halt ER-negative breast cancer progression
    might be a useful drug target in AML (acute myeloid leukemia)
    activation of intracellular Ca2+ signaling by repressing EZH2 might be a potential strategy to promote neuronal differentiation from hMSCs for application to neurological dysfunction diseases
    potential target for tumor therapy
    EZH2 inhibition is potentially an efficient treatment for more aggressive breast cancers
    potential therapeutic target for treatment of ovarian cancer
    histone modifier EZH2 is a strong candidate of target for successful applications in pancreatic cancer therapeutics
    pharmacological inhibition of EZH2 activity may provide a promising treatment for EZH2 mutant lymphoma
  • mice deficient for Ezh2 die at early stages of development by failing to complete gastrulation
  • conditional deletion of beta-cell Ezh2 in juvenile mice reduced H3 trimethylation at the Ink4a/Arf locus, leading to precocious increases of p16(INK4a) and p19(Arf), reduced beta-cell proliferation and mass, hypoinsulinemia, and mild diabetes (
  • hematopoietic-specific deletion of Ezh2 in mice induced heterogeneous hematopoietic malignancies