Reviewed May 2006
What is the official name of the COL5A2 gene?
The official name of this gene is “collagen, type V, alpha 2.”
COL5A2 is the gene's official symbol. The COL5A2 gene is also known by other names, listed below.
What is the normal function of the COL5A2 gene?
The COL5A2 gene provides instructions for making a component of collagen. Collagens form a family of proteins that strengthen and support many tissues in the body, including skin, ligaments, bones, tendons, muscles, and the space between cells and tissues called the extracellular matrix. The COL5A2 gene produces a component of type V collagen, called the pro-alpha2(V) chain. One pro-alpha2(V) chain combines with two pro-alpha1(V) chains (produced by the COL5A1 gene) to form type V procollagen. These triple-stranded, rope-like procollagen molecules must be processed by enzymes outside the cell. Once these molecules are processed, they arrange themselves into long, thin fibrils that cross-link to one another in the spaces around cells. The cross-links result in the formation of very strong, mature type V collagen fibers. Type V collagen also plays a role in assembling other types of collagen into fibrils within many connective tissues.
How are changes in the COL5A2 gene related to health conditions?
- Ehlers-Danlos syndrome - caused by mutations in the COL5A2 gene
Mutations in the COL5A2 gene have been identified in a small number of patients with classic Ehlers-Danlos syndrome. These mutations change the structure and function of the pro-alpha2(V) chain. As a result, type V collagen fibrils in the skin that are assembled with the altered protein are large and irregular. Researchers believe that these changes in collagen structure cause the signs and symptoms of classic Ehlers-Danlos syndrome.
Where is the COL5A2 gene located?
Cytogenetic Location: 2q14-q32
Molecular Location on chromosome 2: base pairs 189,896,640 to 190,044,667
The COL5A2 gene is located on the long (q) arm of chromosome 2 between positions 14 and 32.
More precisely, the COL5A2 gene is located from base pair 189,896,640 to base pair 190,044,667 on chromosome 2.
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 COL5A2?
You and your healthcare professional may find the following resources about COL5A2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(COL5A2%5BTIAB%5D)%20OR%20((AB%20collagen%5BTIAB%5D)%20OR%20(Collagen%20V,%20alpha-2%20polypeptide%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/120190)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=1290)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=2210)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1290)
What other names do people use for the COL5A2 gene or gene products?
- AB collagen
- collagen, fetal membrane, A polypeptide
- Collagen V, alpha-2 polypeptide
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 COL5A2?
extracellular matrix ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Chanut-Delalande H, Bonod-Bidaud C, Cogne S, Malbouyres M, Ramirez F, Fichard A, Ruggiero F. Development of a functional skin matrix requires deposition of collagen V heterotrimers. Mol Cell Biol. 2004 Jul;24(13):6049-57. (http://www.ncbi.nlm.nih.gov/pubmed/15199158?dopt=Abstract)
- Mao JR, Bristow J. The Ehlers-Danlos syndrome: on beyond collagens. J Clin Invest. 2001 May;107(9):1063-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11342567?dopt=Abstract)
- Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. Hum Mol Genet. 1998 Feb;7(2):249-55. (http://www.ncbi.nlm.nih.gov/pubmed/9425231?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1290)
- Richards AJ, Martin S, Nicholls AC, Harrison JB, Pope FM, Burrows NP. A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. J Med Genet. 1998 Oct;35(10):846-8. (http://www.ncbi.nlm.nih.gov/pubmed/9783710?dopt=Abstract)
- Välkkilä M, Melkoniemi M, Kvist L, Kuivaniemi H, Tromp G, Ala-Kokko L. Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. Matrix Biol. 2001 Sep;20(5-6):357-66. (http://www.ncbi.nlm.nih.gov/pubmed/11566270?dopt=Abstract)
- Wenstrup RJ, Florer JB, Brunskill EW, Bell SM, Chervoneva I, Birk DE. Type V collagen controls the initiation of collagen fibril assembly. J Biol Chem. 2004 Dec 17;279(51):53331-7. Epub 2004 Sep 21. (http://www.ncbi.nlm.nih.gov/pubmed/15383546?dopt=Abstract)
- Zoppi N, Gardella R, De Paepe A, Barlati S, Colombi M. Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin. J Biol Chem. 2004 Apr 30;279(18):18157-68. Epub 2004 Feb 17. (http://www.ncbi.nlm.nih.gov/pubmed/14970208?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.