Overview

Location [1]
2p23.3
Pathway
Chromatin remodeling/DNA methylation
Protein [2]
DNA (cytosine-5)-methyltransferase 3A
Synonyms [1]
DNMT3A2, M.HsaIIIA, TBRS

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 3.10% of all cancers with leukemia, non-small cell lung carcinoma, colorectal adenocarcinoma, breast carcinoma, and melanoma having the greatest prevalence of alterations [3].

DNMT3A GENIE Cases - Top Diseases

The most common alterations in DNMT3A are DNMT3A Mutation (2.98%), DNMT3A Nonsense (0.30%), DNMT3A R882H (0.28%), DNMT3A Frameshift (0.26%), and DNMT3A R882C (0.17%) [3].

DNMT3A GENIE Cases - Top Alterations

Significance of DNMT3A in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Chronic Myelomonocytic Leukemia +

Chronic Myeloid Leukemia +

Malignant Solid Tumor +

Lymphoma +

Melanoma +

Non-Small Cell Lung Carcinoma +

Bladder Carcinoma +

Glioblastoma +

Anaplastic Astrocytoma +

Head And Neck Carcinoma +

Colorectal Carcinoma +

Breast Carcinoma +

Pancreatic Carcinoma +

Sarcoma +

Ovarian Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.