DPY19L2

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What is the official name of the DPY19L2 gene?

The official name of this gene is “dpy-19-like 2 (C. elegans).”

DPY19L2 is the gene's official symbol. The DPY19L2 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 DPY19L2 gene?

The DPY19L2 gene provides instructions for making a protein that is found in developing sperm cells. The DPY19L2 protein plays a role in the development of the acrosome, a cap-like structure in the head of sperm cells. The acrosome contains enzymes that break down the outer membrane of egg cells, allowing the sperm to fertilize an egg.

The developing acrosome is attached to the nucleus of the cell. The DPY19L2 protein, which is found within the membrane of the nucleus, helps attach the forming acrosome to the nuclear membrane. As the acrosome develops and the sperm cell matures, the acrosome moves to the tip of the head of the sperm, which helps the head elongate into an oval shape.

How are changes in the DPY19L2 gene related to health conditions?

globozoospermia - caused by mutations in the DPY19L2 gene: At least 17 DPY19L2 gene mutations have been found in men with globozoospermia, a condition characterized by abnormal sperm cells that have a round head and no acrosome. Approximately 70 percent of men with this condition have mutations in DPY19L2. Most of these mutations delete large regions of the gene or the whole gene. Others change single protein building blocks (amino acids) in the DPY19L2 protein. These mutations lead to a loss of functional DPY19L2 protein. Without this protein, the forming acrosome is not attached to the nucleus and is removed from the cell. As a result, sperm cells have no acrosome and the head of the sperm does not elongate. The abnormal sperm are unable to get through the outer membrane of an egg cell to fertilize it, leading to an inability to father biological children (infertility) in affected men. Researchers have described other characteristics of the abnormal sperm cells that make fertilization of an egg cell difficult, although it is not clear how changes in the DPY19L2gene are involved in development of these characteristics.

Where is the DPY19L2 gene located?

Cytogenetic Location: 12q14.2

Molecular Location on chromosome 12: base pairs 63,558,912 to 63,669,200

The DPY19L2 gene is located on the long (q) arm of chromosome 12 at position 14.2.

More precisely, the DPY19L2 gene is located from base pair 63,558,912 to base pair 63,669,200 on chromosome 12.

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

Where can I find additional information about DPY19L2?

You and your healthcare professional may find the following resources about DPY19L2 helpful.

Educational resources - Information pages (3 links)
Genetic Testing Registry - Repository of genetic test information (1 link)

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

PubMed - Recent literature
OMIM - Genetic disorder catalog
Research Resources - Tools for researchers (3 links)

What other names do people use for the DPY19L2 gene or gene products?

D19L2_HUMAN
FLJ32949
probable C-mannosyltransferase DPY19L2
protein dpy-19 homolog 2
SPATA34
spermatogenesis associated 34
SPGF9

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 DPY19L2?

acids ; cell ; egg ; gene ; infertility ; nuclear membrane ; nucleus ; protein ; sperm ; spermatogenesis

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

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.