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FLASH GENE
Symbol MAGEL2 contributors: mct - updated : 09-11-2013
HGNC name MAGE-like 2
HGNC id 6814
Corresponding disease
AMCN5 arthrogryposis multiplex congenita, neurogenic 5
PWLAD Prader-Willi like with autism spectrum disorder
PWS Prader-Willi syndrome
Location 15q11.2      Physical location : 23.888.697 - 23.892.993
Synonym name
  • necdin-like 1
  • melanoma antigen (MAGE)-like 2
  • Synonym symbol(s) NDNL1, nM15,
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text associated with a 5'differentiated methylated region (DMR)
    STRUCTURE 4.30 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - MKRN3 - NDN - MAGEL2 - SNURF - SNRPN - PAR5 - IPW - PAR1 - UBE3A - NDNL2 - ATP10A - APBA2 - qter
    Authors Lee (00), Herzing (02)
    Physical map
    LOC390542 15 similar to CDNA sequence BC005632 LOC390543 15 similar to ATP-binding cassette, sub-family B, member 10, mitochondrial precursor (ATP-binding cassette transporter 10) (ABC transporter 10 protein) (Mitochondrial ATP-binding cassette 2) (M-ABC2) LOC388080 15 similar to hypothetical protein LOC283767 15q11.2 hypothetical gene supported by AK093450 LOC390544 15 similar to engulfment and cell motility 2; ced-12 homolog 2; PH domain protein CED12A TUBGCP5 15q11.1 tubulin, gamma complex associated protein 5 CYFIP1 15q11 cytoplasmic FMR1 interacting protein 1 NIPA2 15q11.2 non-imprinted in Prader-Willi/Angelman syndrome 2 SPG6 15q11-q13 spastic paraplegia 6 (autosomal dominant) LOC339003 15q11.2 similar to HP95 LOC388081 15 LOC388081 LOC339005 15q11.2 hypothetical protein LOC339005 FLJ35785 15q11.2 hypothetical protein FLJ35785 LOC388082 15 hypothetical gene supported by AB002391 LOC390545 15 similar to hypothetical protein FLJ36144 LOC390546 15 similar to golgin-67 isoform c LOC388083 15 similar to hypothetical protein FLJ31951 LOC390547 15 similar to neuronal nonacetlycholine binding subunit LOC390548 15 similar to hypothetical protein FLJ36144 LOC388084 15 similar to FLJ40113 protein LOC388085 15 similar to Golgi autoantigen, golgin subfamily a, 2; golgin-95; Golgi matrix protein GM130; SY11 protein LOC390549 15 similar to hect domain and RLD 2 FLJ36144 15q11.2 hypothetical protein FLJ36144 MKRN3 15q11-q12 makorin, ring finger protein, 3 MAGEL2 15q11.2-q12 MAGE-like 2 NDN 15q11.2-q12 necdin homolog (mouse) C15orf2 15q11-q13 chromosome 15 open reading frame 2 SNRPN 15q11.2-q12 small nuclear ribonucleoprotein polypeptide N SNURF 15q12 SNRPN upstream reading frame
    regionally located 41kb telomeric to NDN (head to tail) within the PWCR region
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 4298 - 1249 - 2000 10915770
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine    Mus musculus
    Nervousbraindiencephalonhypothalamussuprachiasmatic nucleipredominantly Mus musculus
     brainmidbrain    Mus musculus
     brainforebrain    Mus musculus
     gangliasensory gangliadorsal root   Mus musculus
    Reproductivefemale systemplacenta    Mus musculus
     male systembulbourethral gland    Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text several tissues (brain, kidney, liver, lung)
    IMPRINTING maternally
    text
  • paternally in brain fetal and adult
  • only expressed from the paternal allele
  • 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
  • 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