Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital nephrotic syndrome type 15
MAGI2

References:

1.

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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2.

Wood JD et al. (1998) Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins.

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3.

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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4.

Ide N et al. (1999) Interaction of S-SCAM with neural plakophilin-related Armadillo-repeat protein/delta-catenin.

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5.

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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6.

Shoji H et al. (2000) Identification and characterization of a PDZ protein that interacts with activin type II receptors.

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7.

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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8.

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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9.

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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10.

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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11.

Bauß K et al. (2014) Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.

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12.

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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13.

Balbas MD et al. (2014) MAGI-2 scaffold protein is critical for kidney barrier function.

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14.

Bierzynska A et al. (2017) Mutations Cause Congenital Nephrotic Syndrome.

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Update: Nov. 3, 2022
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