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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for COL6A2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1292
Official gene symbolCOL6A2
Full namecollagen, type VI, alpha 2
Aliases,DKFZp586E1322,FLJ46862,PP3610,
Gene summaryThis 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]
LocationChromosome: 21   Locus: 21q22.3
Gene position47518033 - 47552763  Map Viewer
Gene orientationplus
Gene size34731 bp
Gene sequence
OMIM ID120240