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FLASH GENE
Symbol MAGEL2 contributors: mct - updated : 09-11-2015
HGNC name MAGE-like 2
HGNC id 6814
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a C terminal domain of homology with the MAGE (essentially MAGED1) and NDN proteins
    • HOMOLOGY
    Homologene
    FAMILY MAGE gene family
    CATEGORY antigen
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • induces the redistribution of the subcellular localization of CLOCK towards the cytoplasm, in contrast to the nucleus-directed effect of ARNTL on CLOCK subcellular localization
  • normally promotes potentially negative feedback regulation of the cellular circadian cycle, through interactions with key core circadian rhythm proteins
  • MAGED1 and MAGEL2 are thus both essential for the proper regulation of food intake
  • ubiquitin ligase activity of MAGEL2-TRIM27 is important for proper retrograde transport
  • has an essential role in neuronal development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • E3 RING ubiquitin ligase, MAGEL2-TRIM27, localizes to endosomes through interactions with the retromer complex
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MAGEL2 interacts with ARNTL and with PER2
  • TRIM27 was identified as a major binding partner of MAGEL2, and MAGEL2-TRIM27 is likely required for endosome-to-Golgi retrograde transport
  • MAGEL2 was identified to interact with VPS35 and VPS26A two components of the endosomal retromer complex
  • VPS35 recruits MAGEL2-TRIM27 to retromer-positive endosomes by binding to MAGEL2
  • NDN necdin, MAGED1, MAGEF1 and MAGEL2 bound to PIAS1 but not to NSMCE2 or CBX4
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PWS , PWLAD , AMCN5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in the hippocampus of patients with incipient Alzheimer disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene regulation of normal circadian rhythm
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Magel2-null mice exhibit neonatal growth retardation, excessive weight gain after weaning, and increased adiposity with altered metabolism in adulthood as seen in PWS patients
  • mice lacking Magel2 display increased weight gain with excess adiposity and other defects suggestive of hypothalamic deficiency
  • paternally Magel2-null mice have reduced embryonic viability but otherwise normal embryonic growth in survivors, followed by post-natal growth retardation and excessive weight gain, recapitulating aspects of the PWS phenotype