Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
Home A service of the U.S. National Library of Medicine®
Printer-friendly version


Reviewed November 2015

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.

Read more about gene names and symbols on the About page.

What is the normal function of the COL5A2 gene?

The COL5A2 gene provides instructions for making a component of type V collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including skin, ligaments, bones, tendons, and muscles.

A component of type V collagen called the pro-α2(V) chain is produced from the COL5A2 gene. Collagens begin as rope-like procollagen molecules that are each made up of three chains. Two combinations of chains can produce type V collagen: three pro-α1(V) chains (produced from the COL5A1 gene) or two pro-α1(V) chains and one pro-α2(V) chain.

The triple-stranded procollagen molecules are processed by enzymes outside the cell to create mature collagen. The collagen molecules then arrange themselves into long, thin fibrils with another form of collagen, type I. Type V collagen regulates the width (diameter) of those fibrils. Studies suggest that type V collagen also controls the assembly of other types of collagen into fibrils in several tissues.

Does the COL5A2 gene share characteristics with other genes?

The COL5A2 gene belongs to a family of genes called COL (collagens).

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? in the Handbook.

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 people with a form of Ehlers-Danlos syndrome called the classical type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. This form of the disorder is characterized by skin that is soft, highly stretchy (elastic), and fragile; abnormal scarring; and an unusually large range of joint movement (hypermobility). About 20 COL5A2 gene mutations have been identified in people with classical Ehlers-Danlos syndrome. These mutations, which affect one copy of the gene in each cell, change the structure of the pro-α2(V) chain. As a result, fibrils containing type V and type I collagens are disorganized and larger than usual. Researchers believe that the abnormal collagen weakens connective tissues throughout the body, which causes the signs and symptoms of classical Ehlers-Danlos syndrome.

Where is the COL5A2 gene located?

Cytogenetic Location: 2q14-q32

Molecular Location on chromosome 2: base pairs 189,031,915 to 189,225,314

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The COL5A2 gene is located on the long (q) arm of chromosome 2 between positions 14 and 32.

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 189,031,915 to base pair 189,225,314 on chromosome 2.

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

What other names do people use for the COL5A2 gene or gene products?

  • AB collagen
  • collagen, fetal membrane, A polypeptide
  • collagen, type V, alpha 2
  • collagen V, alpha-2 polypeptide

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 COL5A2?

cell ; collagen ; diameter ; elastic ; gene ; hypermobility ; joint ; Pro ; syndrome

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

See also Understanding Medical Terminology.

References (7 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.

Reviewed: November 2015
Published: February 8, 2016