MATN3 Back

matrilin 3

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NCBI Description of MATN3
This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia.

Community Annotation of MATN3 Add / Edit MATN3: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

MATN3 is highly significantly mutated in
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MATN3 is significantly mutated in
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MATN3 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for MATN3