Name

COL6A2 Gene

collagen, type VI, alpha 2

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

col6a2 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term col6a2 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

COL6A2 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for COL6A2 from the Pathway Commons Protein-Protein Interactions dataset.