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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Membrane associated guanylate kinase, WW and PDZ domain containing 2

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] (from NCBI)
Top mentioned proteins: PSD-95, CAN, V1a, SAP97, PTEN
Papers on MAGI-2
Hypomethylation within gene promoter regions and type 1 diabetes in discordant monozygotic twins.
Noble et al., Berkeley, United States. In J Autoimmun, Feb 2016
In the epigenome CpG set, the greatest methylation differences were observed in MAGI2, FANCC, and PCDHB16, (DNAm difference range: 6.9%-16.1%).
Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
Verrotti et al., Roma, Italy. In Am J Med Genet A, Jan 2016
In WBS, epilepsy should be considered both in case of typical and atypical deletions, which do not involve HIP1, YWHAG or MAGI2.
CMTR1 is associated with increased asthma exacerbations in patients taking inhaled corticosteroids.
Wu et al., Copenhagen, Denmark. In Immun Inflamm Dis, Dec 2015
Three SNPs (rs2395672, rs6467778, and rs2691529) were present in three genes: CMTR1, TRIM24 and MAGI2.
PDZ Protein Regulation of G Protein-Coupled Receptor Trafficking and Signaling Pathways.
Ferguson et al., London, Canada. In Mol Pharmacol, Oct 2015
These PDZ domain-containing proteins include the membrane-associated guanylate-like kinases [postsynaptic density protein of 95 kilodaltons; synapse-associated protein of 97 kilodaltons; postsynaptic density protein of 93 kilodaltons; synapse-associated protein of 102 kilodaltons; discs, large homolog 5; caspase activation and recruitment domain and membrane-associated guanylate-like kinase domain-containing protein 3; membrane protein, palmitoylated 3; calcium/calmodulin-dependent serine protein kinase; membrane-associated guanylate kinase protein (MAGI)-1, MAGI-2, and MAGI-3], Na(+)/H(+) exchanger regulatory factor proteins (NHERFs) (NHERF1, NHERF2, PDZ domain-containing kidney protein 1, and PDZ domain-containing kidney protein 2), Golgi-associated PDZ proteins (Gα-binding protein interacting protein, C-terminus and CFTR-associated ligand), PDZ domain-containing guanine nucleotide exchange factors (GEFs) 1 and 2, regulator of G protein signaling (RGS)-homology-RhoGEFs (PDZ domain-containing RhoGEF and leukemia-associated RhoGEF), RGS3 and RGS12, spinophilin and neurabin-1, SRC homology 3 domain and multiple ankyrin repeat domain (Shank) proteins (Shank1, Shank2, and Shank3), partitioning defective proteins 3 and 6, multiple PDZ protein 1, Tamalin, neuronal nitric oxide synthase, syntrophins, protein interacting with protein kinase C α 1, syntenin-1, and sorting nexin 27.
Integration of Cistromic and Transcriptomic Analyses Identifies Nphs2, Mafb, and Magi2 as Wilms' Tumor 1 Target Genes in Podocyte Differentiation and Maintenance.
Englert et al., Jena, Germany. In J Am Soc Nephrol, Sep 2015
To address the evolutionary conservation of WT1 targets, we performed functional assays using zebrafish as a model and identified Nphs2, Mafb, and Magi2 as novel WT1 target genes required for podocyte development.
Alternatively spliced isoforms of WT1 control podocyte-specific gene expression.
Schedl et al., Nice, France. In Kidney Int, Aug 2015
One of these genes encodes the membrane-associated guanylate kinase MAGI2, a protein that localizes to the base of the slit diaphragm.
MAGI2/S-SCAM outside brain.
Hata et al., Tokyo, Japan. In J Biochem, Apr 2015
Membrane-associated guanylate kinase with an inverted arrangement of protein-protein interaction domains (MAGI)2 (also called synaptic scaffolding molecule (S-SCAM), atrophin-1-interacting protein 1, activin receptor-interacting protein 1) is a scaffold protein that binds a wide variety of receptors, cell adhesion molecules and signalling molecules.
Novel genes for airway wall thickness identified with combined genome-wide association and expression analyses.
Groen et al., In Am J Respir Crit Care Med, Apr 2015
Two nominally significant SNPs showed effects with similar direction: rs10251504 in MAGI2 (P = 5.8 × 10(-7)) and rs4796712 in NT5C3B (P = 3.1 × 10(-6)).
S-SCAM, a rare copy number variation gene, induces schizophrenia-related endophenotypes in transgenic mouse model.
Lee et al., Milwaukee, United States. In J Neurosci, Mar 2015
One of the rare CNVs found in SZ cohorts is the duplication of Synaptic Scaffolding Molecule (S-SCAM, also called MAGI-2), which encodes a postsynaptic scaffolding protein controlling synaptic AMPA receptor levels, and thus the strength of excitatory synaptic transmission.
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
Lesca et al., Lyon, France. In Eur J Med Genet, Feb 2015
In the present study, we performed genetic screening of 73 patients with different types of ISs by array-CGH and molecular analysis of 5 genes: CDKL5, STXBP1, KCNQ2, and GRIN2A, whose mutations cause different types of epileptic encephalopathies, including ISs, as well as MAGI2, which was suggested to be related to a subset of ISs.
Corticotropin-Releasing Hormone Receptor Type 1 (CRHR1) Clustering with MAGUKs Is Mediated via Its C-Terminal PDZ Binding Motif.
Deussing et al., München, Germany. In Plos One, 2014
We identified several members of the membrane-associated guanylate kinase (MAGUK) family: postsynaptic density protein 95 (PSD95), synapse-associated protein 97 (SAP97), SAP102 and membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2).
Genetic analysis of quantitative phenotypes in AD and MCI: imaging, cognition and biomarkers.
Alzheimer’s Disease Neuroimaging Initiative et al., Indianapolis, United States. In Brain Imaging Behav, 2014
Several other genes (e.g., APOC1, FTO, GRIN2B, MAGI2, and TOMM40) were associated with multiple ADNI phenotypes, warranting further investigation on other data sets.
Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene.
Surti et al., Pittsburgh, United States. In J Assoc Genet Technol, 2013
MAGI2, an implicated IS-associated gene located within the 7q11.23-q21.11
S-SCAM/MAGI-2 is an essential synaptic scaffolding molecule for the GluA2-containing maintenance pool of AMPA receptors.
Lee et al., Milwaukee, United States. In J Neurosci, 2012
these results suggest that S-SCAM is an essential AMPAR scaffolding molecule for the GluA2-containing pool of AMPARs, which are involved in the constitutive pathway of maintaining synaptic strength.
MAGI1 copy number variation in bipolar affective disorder and schizophrenia.
Paddock et al., Stockholm, Sweden. In Biol Psychiatry, 2012
Results presented herein provide further evidence for a role of MAGI2 in bipolar affective disorder and schizophrenia etiology.
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
Leuzzi et al., Roma, Italy. In Pediatr Neurol, 2012
We summarize recent updates on the genes and related clinical syndromes involved in the pathogenesis of early-onset epileptic encephalopathies: Aristaless-related homeobox (ARX), cyclin-dependent kinase-like 5 (CDKL5), syntaxin-binding protein 1 (STXBP1), solute carrier family 25 member 22 (SLC25A22), nonerythrocytic α-spectrin-1 (SPTAN1), phospholipase Cβ1 (PLCβ1), membrane-associated guanylate kinase inverted-2 (MAGI2), polynucleotide kinase 3'-phosphatase (PNKP), sodium channel neuronal type 1α subunit (SCN1A), protocadherin 19 (PCDH19), and pyridoxamine 5-prime-phosphate oxidase (PNPO).
Common variants in MAGI2 gene are associated with increased risk for cognitive impairment in schizophrenic patients.
Ozaki et al., Nagoya, Japan. In Plos One, 2011
Common variants in MAGI2 gene are associated with increased risk for cognitive impairment in schizophrenic patients.
Replication of genetic variation in the MYO9B gene in Crohn's disease.
Muise et al., Toronto, Canada. In Hum Immunol, 2011
there was no association of MAGI2 and PARD3 with IBD.
The genomic complexity of primary human prostate cancer.
Garraway et al., Cambridge, United States. In Nature, 2011
Three tumours contained rearrangements that disrupted CADM2, and four harboured events disrupting either PTEN (unbalanced events), a prostate tumour suppressor, or MAGI2 (balanced events), a PTEN interacting protein not previously implicated in prostate tumorigenesis.
Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2.
Capone Mori et al., Aarau, Switzerland. In Am J Med Genet A, 2010
analysis of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2 [case report]
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