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Reviewed January 2014

What is the official name of the DNMT3A gene?

The official name of this gene is “DNA (cytosine-5-)-methyltransferase 3 alpha.”

DNMT3A is the gene's official symbol. The DNMT3A gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the DNMT3A gene?

The DNMT3A gene provides instructions for making an enzyme called DNA (cytosine-5)-methyltransferase 3 alpha. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. In particular, the enzyme helps add methyl groups to DNA building blocks (nucleotides) called cytosines.

DNA methylation is important in many cellular functions. These include determining whether the instructions in a particular segment of DNA are carried out or suppressed (gene silencing), regulating reactions involving proteins and fats (lipids), and controlling the processing of chemicals that relay signals in the nervous system (neurotransmitters). DNA (cytosine-5)-methyltransferase 3 alpha is particularly important for establishing the initial locations for methylation during development. The enzyme also functions in early cells that can give rise to more mature cell types. In early blood cells, called hematopoietic stem cells, the methylation patterns established by DNA (cytosine-5)-methyltransferase 3 alpha promote maturation (differentiation) into different blood cell types.

How are changes in the DNMT3A gene related to health conditions?

cytogenetically normal acute myeloid leukemia - associated with the DNMT3A gene

Mutations in the DNMT3A gene are associated with a form of blood cancer known as cytogenetically normal acute myeloid leukemia (CN-AML). While large chromosomal abnormalities can be involved in the development of acute myeloid leukemia, about half of cases do not have these abnormalities; these are classified as CN-AML. Up to one-third of people with CN-AML have a mutation in the DNMT3A gene.

The DNMT3A gene mutations involved in CN-AML are called somatic mutations; they are found only in cells that become cancerous and are not inherited. Most change single protein building blocks (amino acids) in the DNA (cytosine-5)-methyltransferase 3 alpha enzyme. Studies suggest that these changes make the enzyme less able to fully methylate DNA. It is also thought that the altered pattern of methylation in cells changes the activity of several genes; some genes that are normally silenced may be turned on. Researchers speculate that the altered gene activity prevents hematopoietic stem cells from differentiating normally, which leads to the overproduction of abnormal, immature white blood cells characteristic of acute myeloid leukemia.

other cancers - associated with the DNMT3A gene

Somatic DNMT3A gene mutations are also found relatively frequently in another form of blood cancer called T-cell acute lymphoblastic leukemia. As in CN-AML, the mutations disrupt the normal pattern of methylation in cells, which blocks differentiation. It is unclear why some people with DNMT3A gene mutations develop acute myeloid leukemia and others develop acute lymphoblastic leukemia.

Where is the DNMT3A gene located?

Cytogenetic Location: 2p23

Molecular Location on chromosome 2: base pairs 25,232,961 to 25,342,590

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The DNMT3A gene is located on the short (p) arm of chromosome 2 at position 23.

The DNMT3A gene is located on the short (p) arm of chromosome 2 at position 23.

More precisely, the DNMT3A gene is located from base pair 25,232,961 to base pair 25,342,590 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about DNMT3A?

You and your healthcare professional may find the following resources about DNMT3A helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DNMT3A gene or gene products?

  • DNA (cytosine-5)-methyltransferase 3A
  • DNA cytosine methyltransferase 3A2
  • DNA MTase HsaIIIA
  • DNMT3A2
  • M.HsaIIIA

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding DNMT3A?

References (8 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: January 2014
Published: February 8, 2016