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COL6A2

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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular, Secreted (different isoforms)

Single cell type specificity

Cell type enhanced (Fibroblasts, Leydig cells, Smooth muscle cells, Peritubular cells, Endometrial stromal cells)

Immune cell specificity

Group enriched (gdT-cell, MAIT T-cell, memory CD8 T-cell, naive CD8 T-cell)

Cell line specificity

Cell line enhanced (ASC diff, ASC TERT1, BJ, BJ hTERT+, fHDF/TERT166, HHSteC, HSkMC, U-138 MG)

Interaction

Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI). Interacts with CSPG4.

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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