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FLASH GENE
Symbol DNMT3A contributors: shn/mct - updated : 01-06-2016
HGNC name DNA (cytosine-5-)-methyltransferase 3 alpha
HGNC id 2978
ASSOCIATED DISORDERS
corresponding disease(s) DNMT3OGS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral somatic mutation      
in acute myeloid leukemia
tumoral somatic mutation      
in acute myelomonocytic leukemia (AML-M4)with poor prognosis
tumoral   deletion    
promotes lung tumor progression
constitutional       loss of function
its loss in hematopoietic stem cell (HSC)leads to the inhibition of differentiation and the hypomethylation of genes with a causal role in cancer
tumoral somatic mutation      
frequently mutated in T-ALL and is associated with distinct clinicopathologic entities and a poor prognosis
tumoral     --over  
by intragenic hypomethylation is associated with adverse prognosis in acute myeloid leukemia
constitutional       loss of function
disruption of DNMT3A or DNMT3B individually as well as of both enzymes in tandem results in viable, pluripotent cell lines with distinct effects on the DNA methylation landscape
Susceptibility to Crohn disease
Variant & Polymorphism other
  • increasing the risk of Crohn disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Dnmt3a(-/-) mice fail to establish maternal methylation imprints
  • disruption of Dnmt3a in female mouse germ cells, with its preservation in somatic cells mutant leads to death in utero and the lack of methylation and allele-specific expression at maternally imprinted loci
  • Dnmt3a conditional mutant males show impairment of spermatogenesis and lack methylation at two of three paternally imprinted loci in spermatogonia
  • conditional mutant mice lacking Dnmt1 and Dnmt3 in forebrain excitatory neurons have abnormal long-term plasticity in the hippocampal CA1 region with deficits in learning and memory
  • Dnmt3a-deficient mice had more grade 2 and grade 3 lung tumors than WT mice
  • Pml-Rara requires Dnmt3a to initiate acute promyelocytic leukemia (APL) in mice