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Reviewed October 2015

What is the official name of the COL6A2 gene?

The official name of this gene is “collagen type VI alpha 2.”

COL6A2 is the gene's official symbol. The COL6A2 gene is also known by other names, listed below.

What is the normal function of the COL6A2 gene?

The COL6A2 gene provides instructions for making one component of type VI collagen, which is a flexible protein found in the space that surrounds cells. Specifically, the protein produced from the COL6A2 gene is the alpha(α)2(VI) chain of type VI collagen. This chain combines with chains produced from other genes to produce a complete type VI collagen molecule.

Collagens are found in the extracellular matrix, which is an intricate lattice that forms in the space between cells and provides structural support. Type VI collagen is located in the extracellular matrix surrounding cells that make up the muscles used for movement (skeletal muscle cells) and cells that make up connective tissue, which provides strength and flexibility to structures throughout the body, including skin and joints. The extracellular matrix is necessary for cell stability and growth. Research suggests that type VI collagen links basement membranes, which are thin, sheet-like structures that are part of the extracellular matrix, to nearby cells.

Does the COL6A2 gene share characteristics with other genes?

The COL6A2 gene belongs to a family of genes called COL (collagens).


How are changes in the COL6A2 gene related to health conditions?

collagen VI-related myopathy - caused by mutations in the COL6A2 gene

Mutations in the COL6A2 gene have been found to cause some cases of collagen VI-related myopathy, which is a group of disorders that vary in severity but generally result in muscle weakness and joint deformities called contractures. These mutations often change single protein building blocks (amino acids) in the α2(VI) chain. The most frequently affected amino acid is glycine; changes to this building block disrupt the structure of the α2(VI) chain. Other mutations can also disrupt the structure of the α2(VI) chain.

Mutations in the COL6A2 gene affect type VI collagen in different ways. Some mutations lead to altered α2(VI) chains that can be incorporated into the mature type VI collagen molecule, although they disrupt the molecule's structure and function. Other mutations result in an altered chain that cannot be incorporated at all. Still other mutations prevent the production of any functional α2(VI) chain, which impedes formation of type VI collagen. All of these COL6A2 gene mutations lead to a reduction or absence of functional collagen VI molecules. While it is difficult to predict the severity of collagen VI-related myopathy based on the type of mutation, in general, lower amounts of type VI collagen lead to more severe signs and symptoms that begin earlier in life.

Changes in α2(VI) chain structure or production lead to an unstable extracellular matrix that is no longer attached to cells through the basement membrane. As a result, the stability of muscle cells and connective tissue progressively declines, which leads to the muscle weakness, contractures, and other signs and symptoms of collagen VI-related myopathy.

Where is the COL6A2 gene located?

Cytogenetic Location: 21q22.3

Molecular Location on chromosome 21: base pairs 46,097,606 to 46,132,849


The COL6A2 gene is located on the long (q) arm of chromosome 21 at position 22.3.


More precisely, the COL6A2 gene is located from base pair 46,097,606 to base pair 46,132,849 on chromosome 21.


Where can I find additional information about COL6A2?

You and your healthcare professional may find the following resources about COL6A2 helpful.


What other names do people use for the COL6A2 gene or gene products?

  • collagen alpha-2(VI) chain
  • collagen, type VI, alpha 2
  • collagen VI, alpha-2 polypeptide


What glossary definitions help with understanding COL6A2?

acids ; amino acid ; basement membrane ; basement membranes ; cell ; collagen ; congenital ; connective tissue ; extracellular ; extracellular matrix ; gene ; glycine ; joint ; molecule ; muscle cells ; muscular dystrophy ; mutation ; protein ; skeletal muscle ; tissue



  • Allamand V, Briñas L, Richard P, Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? Skelet Muscle. 2011 Sep 23;1:30. doi: 10.1186/2044-5040-1-30. (
  • Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol. 2007 Oct;62(4):390-405. (
  • Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. Epub 2004 Nov 24. (
  • Bönnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 Jun 21;7(7):379-90. doi: 10.1038/nrneurol.2011.81. Review. (
  • Bushby KM, Collins J, Hicks D. Collagen type VI myopathies. Adv Exp Med Biol. 2014;802:185-99. doi: 10.1007/978-94-007-7893-1_12. Review. (
  • NCBI Gene (



Reviewed: October 2015
Published: February 8, 2016