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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

ARFGEF2

Reviewed November 2007

What is the official name of the ARFGEF2 gene?

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.

What is the normal function of the ARFGEF2 gene?

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.

How are changes in the ARFGEF2 gene related to health conditions?

periventricular heterotopia - caused by mutations in the ARFGEF2 gene

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.

Where is the ARFGEF2 gene located?

Cytogenetic Location: 20q13.13

Molecular Location on chromosome 20: base pairs 48,921,712 to 49,036,692

The ARFGEF2 gene is located on the long (q) arm of chromosome 20 at position 13.13.

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 48,921,712 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.

Where can I find additional information about ARFGEF2?

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.

What other names do people use for the ARFGEF2 gene or gene products?

  • ADP-ribosylation factor guanine nucleotide-exchange factor 2
  • BIG2
  • BIG2_HUMAN
  • brefeldin A-inhibited guanine nucleotide-exchange protein 2
  • dJ1164I10.1
  • FLJ23723

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ARFGEF2?

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 (http://www.ghr.nlm.nih.gov/glossary).

References

  • Lian G, Sheen V. Cerebral developmental disorders. Curr Opin Pediatr. 2006 Dec;18(6):614-20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17099359?dopt=Abstract)
  • Lu J, Tiao G, Folkerth R, Hecht J, Walsh C, Sheen V. Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia. J Comp Neurol. 2006 Jan 20;494(3):476-84. (http://www.ncbi.nlm.nih.gov/pubmed/16320251?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10564)
  • OMIM: ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 2 (http://omim.org/entry/605371)
  • Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet. 2004 Jan;36(1):69-76. Epub 2003 Nov 30. (http://www.ncbi.nlm.nih.gov/pubmed/14647276?dopt=Abstract)
  • Shin HW, Morinaga N, Noda M, Nakayama K. BIG2, a guanine nucleotide exchange factor for ADP-ribosylation factors: its localization to recycling endosomes and implication in the endosome integrity. Mol Biol Cell. 2004 Dec;15(12):5283-94. Epub 2004 Sep 22. (http://www.ncbi.nlm.nih.gov/pubmed/15385626?dopt=Abstract)
  • Shin HW, Shinotsuka C, Nakayama K. Expression of BIG2 and analysis of its function in mammalian cells. Methods Enzymol. 2005;404:206-15. (http://www.ncbi.nlm.nih.gov/pubmed/16413271?dopt=Abstract)

 

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.

 
Reviewed: November 2007
Published: July 21, 2014