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Genetics Home Reference: your guide to understanding genetic conditions
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VCAN

Reviewed January 2010

What is the official name of the VCAN gene?

The official name of this gene is “versican.”

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

What is the normal function of the VCAN gene?

The VCAN gene provides instructions for making a protein called versican. Versican is a type of protein known as a proteoglycan, which means it has several sugar molecules attached to it. Versican is found in the extracellular matrix of many different tissues and organs. The extracellular matrix is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Versican interacts with many proteins and molecules to facilitate the assembly of the extracellular matrix and ensure its stability. Within the eye, versican interacts with other proteins to maintain the structure and gel-like consistency of the thick clear fluid that fills the eyeball (the vitreous).

Researchers have proposed several additional functions for versican. This protein likely helps regulate cell growth and division, the attachment of cells to one another (cell adhesion), and cell movement (migration). Studies suggest that versican plays a role in forming new blood vessels (angiogenesis), wound healing, inflammation, and preventing the growth of cancerous tumors. Versican also regulates the activity of several growth factors, which control a diverse range of processes important for cell growth.

Four different versions (isoforms) of the versican protein are produced from the VCAN gene. These isoforms (called V0, V1, V2, and V3) vary by size and by their location within the body.

Does the VCAN gene share characteristics with other genes?

The VCAN gene belongs to a family of genes called proteoglycans (proteoglycans).

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

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

Wagner syndrome - caused by mutations in the VCAN gene

At least 11 mutations in the VCAN gene have been found to cause Wagner syndrome, a condition that leads to progressive vision loss starting in childhood or early adulthood. The VCAN gene mutations that cause Wagner syndrome disrupt the way the gene's instructions are used to make versican. These mutations occur in two areas of the gene called intron 7 and exon 8; mutations in these regions lead to a decrease in the production of versican isoforms V0 and V1 and an increase in the production of isoforms V2 and V3. Researchers believe that this imbalance of versican isoforms in the vitreous impairs versican's interaction with other proteins, causing the vitreous to become unstable. This lack of stability in the vitreous affects other areas of the eye and contributes to the vision problems that occur in people with Wagner syndrome. It is unknown why VCAN gene mutations seem solely to affect vision.

Where is the VCAN gene located?

Cytogenetic Location: 5q14.3

Molecular Location on chromosome 5: base pairs 83,471,673 to 83,582,302

The VCAN gene is located on the long (q) arm of chromosome 5 at position 14.3.

The VCAN gene is located on the long (q) arm of chromosome 5 at position 14.3.

More precisely, the VCAN gene is located from base pair 83,471,673 to base pair 83,582,302 on chromosome 5.

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 VCAN?

You and your healthcare professional may find the following resources about VCAN 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 VCAN gene or gene products?

  • chondroitin sulfate proteoglycan 2
  • CSPG2
  • CSPG2_HUMAN
  • glial hyaluronate-binding protein
  • versican proteoglycan

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 VCAN?

angiogenesis ; cell ; cell adhesion ; exon ; extracellular ; extracellular matrix ; gene ; inflammation ; intron ; isoforms ; protein ; proteoglycan ; sulfate ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W. Identification of the genetic defect in the original Wagner syndrome family. Mol Vis. 2006 Apr 17;12:350-5. (http://www.ncbi.nlm.nih.gov/pubmed/16636652?dopt=Abstract)
  • Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3565-72. (http://www.ncbi.nlm.nih.gov/pubmed/16877430?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1462)
  • Rahmani M, Wong BW, Ang L, Cheung CC, Carthy JM, Walinski H, McManus BM. Versican: signaling to transcriptional control pathways. Can J Physiol Pharmacol. 2006 Jan;84(1):77-92. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16845893?dopt=Abstract)
  • Ronan SM, Tran-Viet KN, Burner EL, Metlapally R, Toth CA, Young TL. Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. Arch Ophthalmol. 2009 Nov;127(11):1511-9. doi: 10.1001/archophthalmol.2009.273. (http://www.ncbi.nlm.nih.gov/pubmed/19901218?dopt=Abstract)
  • Theocharis DA, Skandalis SS, Noulas AV, Papageorgakopoulou N, Theocharis AD, Karamanos NK. Hyaluronan and chondroitin sulfate proteoglycans in the supramolecular organization of the mammalian vitreous body. Connect Tissue Res. 2008;49(3):124-8. doi: 10.1080/03008200802148496. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18661326?dopt=Abstract)
  • OMIM: VERSICAN (http://omim.org/entry/118661)
  • Wight TN. Versican: a versatile extracellular matrix proteoglycan in cell biology. Curr Opin Cell Biol. 2002 Oct;14(5):617-23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12231358?dopt=Abstract)
  • Wu YJ, La Pierre DP, Wu J, Yee AJ, Yang BB. The interaction of versican with its binding partners. Cell Res. 2005 Jul;15(7):483-94. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16045811?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: January 2010
Published: October 20, 2014