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Reviewed October 2013
What is the official name of the KMT2D gene?
The official name of this gene is “lysine (K)-specific methyltransferase 2D.”
KMT2D is the gene's official symbol. The KMT2D 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 KMT2D gene?
The KMT2D gene, also known as MLL2, provides instructions for making an enzyme called lysine-specific methyltransferase 2D that is found in many organs and tissues of the body. Lysine-specific methyltransferase 2D functions as a histone methyltransferase. Histone methyltransferases are enzymes that modify proteins called histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (a process called methylation), histone methyltransferases control (regulate) the activity of certain genes. Lysine-specific methyltransferase 2D appears to activate certain genes that are important for development.
Lysine-specific methyltransferase 2D is also believed to act as a tumor suppressor, which means it normally helps prevent cells from growing and dividing in an uncontrolled way.
Does the KMT2D gene share characteristics with other genes?
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the KMT2D gene related to health conditions?
Where is the KMT2D gene located?
Cytogenetic Location: 12q13.12
Molecular Location on chromosome 12: base pairs 49,018,975 to 49,061,895
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The KMT2D gene is located on the long (q) arm of chromosome 12 at position 13.12.
More precisely, the KMT2D gene is located from base pair 49,018,975 to base pair 49,061,895 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about KMT2D?
You and your healthcare professional may find the following resources about KMT2D 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 KMT2D gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 KMT2D?
amino acid ; cancer ; colon ; disability ; DNA ; enzyme ; gene ; histone ; leukemia ; lineage ; lymphoid ; lysine ; methyl ; methylation ; methyltransferase ; molecule ; myeloid ; protein ; syndrome ; trinucleotide repeat ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 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.