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FLASH GENE
Symbol MAGI2 contributors: mct/pgu - updated : 05-01-2017
HGNC name membrane associated guanylate kinase, WW and PDZ domain containing 2
HGNC id 18957
DNA
TYPE functioning gene
STRUCTURE 1436.52 kb     22 Exon(s)
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 6880 - 1455 - 2000 10760291
21 - 6845 - 1441 - 2000 10760291
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivepancreas exocrine   moderately
Endocrineneuroendocrine   predominantly
 parathyroid   highly
Hearing/Equilibriumear   moderately
Nervousbrain   highly
 nerve   moderately
Urinarykidneynephron  highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Urinarypodocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a guanylate kinase-like (GUK) domain
  • two WW domains
  • and five PDZ domains
  • HOMOLOGY
    interspecies homolog to murine Magi1
    ortholog to rattus Acvrinp1
    ortholog to murine Magi2
    intraspecies homolog to synaptic scaffolding molecule
    homolog to AIP3/WWP3 (BAIP1)
    Homologene
    FAMILY
  • MAGUK family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,nucleus,nucleoplasm
    intracellular,nuclear envelope
    text
  • membrane-associated in synaptosomes
  • localizes to the base of the slit diaphragmc
  • basic FUNCTION
  • playing a role in assembling activin signaling molecule and in regulating signal transduction in neuronal cells
  • 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
  • enhancing the ability of PTEN to suppress AKT1 activation
  • involved in the regulation of protein degradation, apoptosis, neuronal loss and neurodevelopment
  • is crucial for the cooperation between the CDH2/catenin and the neuroligin-1 systems, leading to a transsynaptic regulation of presynaptic maturation
  • plays the critical role of maintaining synaptic strength
  • is required for the integrity of the kidney filter and podocyte survival
  • USH1G and MAGI2-mediated endocytosis regulates aspects of ciliogenesis
  • is critical for kidney barrier function
  • is essential for proper localization of nephrin and the assembly of the slit diaphragm complex
  • is a scaffolding protein that links cell adhesion molecules, receptors, and signaling molecules to the cytoskeleton and maintains the architecture of cell junctions
  • MAGI2 and FYN protect DDN from NEDD4L-mediated ubiquitination and from nuclear translocation, thereby maintaining the physiologic homeostasis of podocytes, and the lack of MAGI2 in podocytes results in glomerulosclerosis
  • may contribute to prostate carcinogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of a complex consisiting of AIP1, ACVR2A, ACVR1B and SMAD3
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • atrophin 1
  • activin receptor
  • CTNNB at sites of cell-cell contact
  • DRPLA via the WW domains
  • PTEN unphosphorylated C-terminus via the second PDZ domain
  • DLGAP1 via the guanylate kinase domain
  • GRIN2A via the PDZ domains
  • GRID2 via the PDZ domains
  • NLGN1 via the PDZ domains
  • CTNND2
  • CTNNB1
  • MAGI- 1
  • ACVR2A
  • SMAD2
  • SMAD3
  • HTR2A
  • interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse
  • is an essential AMPAR scaffolding molecule for the GRIA2-containing pool of AMPARs, which are involved in the constitutive pathway of maintaining synaptic strength
  • IGSF9B was linked to neuroligin 2, an inhibitory synaptic adhesion molecule coupled to gephyrin, via the multi-PDZ protein MAGI2
  • MAGI1, -2, and -3 all contain WW domains and were confirmed as PRRG4-binding proteins
  • phosphorylated USH1G tightly regulates MAGI2-mediated endocytosis
  • NDEL1 enzyme activity was found to be associated with CAMK1D, MAGI2, CCDC25, and GABGR3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ISS1 , NPHS15
    Susceptibility to inflammatory bowel disease
    Variant & Polymorphism SNP , insertion/deletion
  • association in intron 6 (rs2160322) with inflammatory bowel disease
  • Candidate gene for infantile spasms in deletions distal to or encompassing the WBSCR
    Marker
  • MAGI2 could represent a useful adjunct for diagnosis of prostatic adenocarcinoma, especially when AMACR is not discriminatory
  • Therapy target
    ANIMAL & CELL MODELS
  • Magi-2 null mice presented with progressive proteinuria as early as 2 wk postnatally, which coincided with loss of nephrin expression in the glomeruli