EFEMP2 Back

EGF-containing fibulin-like extracellular matrix protein 2

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NCBI Description of EFEMP2
A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene.

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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

EFEMP2 is highly significantly mutated in
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EFEMP2 is significantly mutated in
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EFEMP2 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 EFEMP2