Aliases for MFAP2 Gene
External Ids for MFAP2 Gene
Previous GeneCards Identifiers for MFAP2 Gene
Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
GeneCards Summary for MFAP2 Gene
MFAP2 (Microfibril Associated Protein 2) is a Protein Coding gene. Diseases associated with MFAP2 include Costello Syndrome. Among its related pathways are Notch signaling pathway (KEGG) and Elastic fibre formation. Gene Ontology (GO) annotations related to this gene include fibronectin binding and fibrinogen binding. An important paralog of this gene is MFAP5.
UniProtKB/Swiss-Prot for MFAP2 Gene
Component of the elastin-associated microfibrils.