|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited).”
ARFGEF2 is the gene's official symbol. The ARFGEF2 gene is also known by other names, listed below.
The ARFGEF2 gene provides instructions for making a protein that helps with the movement (trafficking) of small sac-like structures (vesicles) within the cell. The ARFGEF2 protein converts a molecule called guanine diphosphate (GDP) to another molecule called guanine triphosphate (GTP). This reaction activates an ADP-ribosylation factor, a molecule that is involved in vesicle trafficking. Vesicles transport many types of molecules from the interior of the cell to its surface, where they may attach and interact with other substances, or be secreted by the cell.
A few mutations in the ARFGEF2 gene have been identified in individuals with periventricular heterotopia. These mutations may interfere with vesicle trafficking, which is important in controlling cell migration during the development of the brain. Nerve cells (neurons) that do not migrate properly during development form clumps around fluid-filled cavities (ventricles) near the center of the brain, resulting in the signs and symptoms of periventricular heterotopia.
Mutations in the ARFGEF2 gene may also result in weakening of the attachments (adhesion) between cells that form the lining of the ventricles, by impairing the trafficking of the molecules needed for this adhesion. A weakened ventricular lining could allow some neurons to form clumps around the ventricles while others migrate normally to the exterior of the brain, as seen in periventricular heterotopia.
Cytogenetic Location: 20q13.13
Molecular Location on chromosome 20: base pairs 48,921,720 to 49,036,692
The ARFGEF2 gene is located on the long (q) arm of chromosome 20 at position 13.13.
More precisely, the ARFGEF2 gene is located from base pair 48,921,720 to base pair 49,036,692 on chromosome 20.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ARFGEF2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
ADP ; cell ; gene ; GTP ; guanine ; molecule ; nucleotide ; protein ; vesicle
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.