Location [1]
Chromatin remodeling/DNA methylation
Protein [2]
DNA (cytosine-5)-methyltransferase 3A
Synonyms [1]

DNMT3A (DNA (cytosine-5-)-methyltransferase 3 alpha) gene encodes the DNA (cytosine-5)-methyltransferase 3A protein, which is involved in epigenetic gene regulation (Gene 2013; PMID: 17938196). DNMT3A is most frequently mutated in hematologic malignancies, but it has also been observed in other cancers, including lung cancer (PMID: 23031157). 

DNMT3A is altered in 3.61% of all cancers with lung adenocarcinoma, acute myeloid leukemia, myelodysplastic syndromes, colon adenocarcinoma, and unknown having the greatest prevalence of alterations [3].

DNMT3A GENIE Cases - Top Diseases

The most common alterations in DNMT3A are DNMT3A Mutation (2.95%), DNMT3A R882H (0.41%), DNMT3A Nonsense (0.38%), DNMT3A R882C (0.21%), and DNMT3A Loss (0.08%) [3].

DNMT3A GENIE Cases - Top Alterations

Significance of DNMT3A in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Chronic Myelomonocytic Leukemia +

Chronic Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Multiple Myeloma +

Melanoma +

Lymphoma +

Non-Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Non-Small Cell Lung Carcinoma +

Bladder Carcinoma +

Glioblastoma +

Colorectal Carcinoma +

Anaplastic Astrocytoma +

Malignant Solid Tumor +

Hodgkin Lymphoma +

Head And Neck Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Sarcoma +

Pancreatic Carcinoma +

Aplastic Anemia +

Lymphoblastic Lymphoma +

Therapy-Related Chronic Myelomonocytic Leukemia +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.