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FLASH GENE

Symbol

DNMT3A

contributors: shn/mct - updated : 01-06-2017

HGNC name	DNA (cytosine-5-)-methyltransferase 3 alpha
HGNC id	2978

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DNMT3OGS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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