MAGI2

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]

Full Name

membrane associated guanylate kinase, WW and PDZ domain containing 2

Function

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.

Biological Process

Cellular response to nerve growth factor stimulusISS:UniProtKB
Glomerular visceral epithelial cell developmentISS:UniProtKB
Negative regulation of activin receptor signaling pathwayISS:UniProtKB
Negative regulation of cell migrationISS:UniProtKB
Negative regulation of cell population proliferationISS:UniProtKB
Negative regulation of protein kinase B signalingManual Assertion Based On ExperimentIDA:UniProtKB
Nerve growth factor signaling pathwayISS:UniProtKB
Nervous system developmentIEA:UniProtKB-KW
Planar cell polarity pathway involved in axis elongation1 PublicationNAS:UniProtKB
Positive regulation of neuron projection developmentISS:UniProtKB
Positive regulation of phosphoprotein phosphatase activityManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of receptor internalizationManual Assertion Based On ExperimentIDA:UniProtKB
Receptor clusteringISS:UniProtKB
Signal transductionManual Assertion Based On ExperimentIBA:GO_Central
SMAD protein signal transductionISS:UniProtKB

Cellular Location

Cytoplasm
Late endosome
Cell junction, synapse, synaptosome
Cell membrane By Similarity; Peripheral membrane protein
Localized diffusely in the cytoplasm before nerve growth factor (NGF) stimulation. Recruited to late endosomes after NGF stimulation. Membrane-associated in synaptosomes (By similarity).

Involvement in disease

Nephrotic syndrome 15 (NPHS15):
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. NPHS15 is an autosomal recessive form with onset in the first months of life. Disease severity is variable. Some patients show rapid progression to end-stage renal failure.