MAGI2 gene
The MAGI2 gene encodes a protein, membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2, that is involved in cell atrophy associated signaling. Mutations cause autosomal recessive congenital nephrotic syndrome type 15.
Genetests:
Related Diseases:
References:
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Ishikawa K et al. (1998) Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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Wood JD et al. (1998) Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins.
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Hirao K et al. (1998) A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins.
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Ide N et al. (1999) Interaction of S-SCAM with neural plakophilin-related Armadillo-repeat protein/delta-catenin.
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Hirao K et al. (2000) Three isoforms of synaptic scaffolding molecule and their characterization. Multimerization between the isoforms and their interaction with N-methyl-D-aspartate receptors and SAP90/PSD-95-associated protein.
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Shoji H et al. (2000) Identification and characterization of a PDZ protein that interacts with activin type II receptors.
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Valiente M et al. (2005) Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases.
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Lehtonen S et al. (2005) Cell junction-associated proteins IQGAP1, MAGI-2, CASK, spectrins, and alpha-actinin are components of the nephrin multiprotein complex.
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Deng F et al. (2006) Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain.
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Marshall CR et al. (2008) Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
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Bauß K et al. (2014) Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
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Ihara K et al. (2014) MAGI-2 is critical for the formation and maintenance of the glomerular filtration barrier in mouse kidney.
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Balbas MD et al. (2014) MAGI-2 scaffold protein is critical for kidney barrier function.
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Bierzynska A et al. (2017) Mutations Cause Congenital Nephrotic Syndrome.
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Update: Nov. 3, 2022