Aliases for MAGI2 Gene
External Ids for MAGI2 Gene
Previous GeneCards Identifiers for MAGI2 Gene
The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]
GeneCards Summary for MAGI2 Gene
MAGI2 (Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 2) is a Protein Coding gene. Diseases associated with MAGI2 include epileptic encephalopathy, early infantile, 31 and cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Phospholipase-C Pathway. GO annotations related to this gene include signal transducer activity and SMAD binding. An important paralog of this gene is MAGI3.
UniProtKB/Swiss-Prot for MAGI2 Gene
Seems to act as scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins. May play a role in regulating activin-mediated signaling in neuronal cells. Enhances the ability of PTEN to suppress AKT1 activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth.