DNA (cytosine-5-)-methyltransferase 3 alpha

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NCBI Description of DNMT3A

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. Alternative splicing results in multiple transcript variants encoding different isoforms.

Community Annotation of DNMT3A Add / Edit DNMT3A: Annotations

Added by Cyrus Hedvat


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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


DNMT3A is highly significantly mutated in
Acute myeloid leukemia
51 patients (26%)
combined cohort
112 patients (2%)
DNMT3A is significantly mutated in
DNMT3A is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for DNMT3A