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    Magel2 MAGE family member L2 [ Mus musculus (house mouse) ]

    Gene ID: 27385, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Magel2provided by MGI
    Official Full Name
    MAGE family member L2provided by MGI
    Primary source
    MGI:MGI:1351648
    See related
    Ensembl:ENSMUSG00000056972 AllianceGenome:MGI:1351648
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ns7; nM15; NDNL1; Mage-l2
    Summary
    Predicted to enable ubiquitin-protein transferase activity. Involved in negative regulation of DNA-templated transcription and regulation of circadian rhythm. Acts upstream of or within positive regulation of actin nucleation. Located in cytoplasm and nucleus. Is expressed in several structures, including central nervous system; egg cylinder; limb bud; pharynx; and reproductive system. Used to study Prader-Willi syndrome. Human ortholog(s) of this gene implicated in Schaaf-Yang syndrome. Orthologous to human MAGEL2 (MAGE family member L2). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    human all
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    Genomic context

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    See Magel2 in Genome Data Viewer
    Location:
    7 C; 7 34.37 cM
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (62026727..62031388)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (62376979..62381640)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 42395 Neighboring gene predicted gene, 32061 Neighboring gene necdin, MAGE family member Neighboring gene makorin, ring finger protein, 3 Neighboring gene STARR-seq mESC enhancer starr_18999 Neighboring gene paternally expressed 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Oxytocin receptors in the Magel2 mouse model of autism: Specific region, age, sex and oxytocin treatment effects. Gigliucci V, et al. Front Neurosci, 2023. PMID 36998737, Free PMC Article
    2. Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome. Bischof JM, et al. Hum Mol Genet, 2007 Nov 15. PMID 17728320
    3. Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice. Mercer RE, et al. PLoS One, 2009. PMID 19172181, Free PMC Article
    4. Regionally reduced brain volume, altered serotonin neurochemistry, and abnormal behavior in mice null for the circadian rhythm output gene Magel2. Mercer RE, et al. Am J Med Genet B Neuropsychiatr Genet, 2009 Dec 5. PMID 19199291
    5. Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice. Tennese AA, et al. Endocrinology, 2011 Mar. PMID 21248145, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Early life oxytocin treatment improves thermo-sensory reactivity and maternal behavior in neonates lacking the autism-associated gene Magel2.
      Title: Early life oxytocin treatment improves thermo-sensory reactivity and maternal behavior in neonates lacking the autism-associated gene Magel2.
    2. Magel2 knockdown in hypothalamic POMC neurons innervating the medial amygdala reduces susceptibility to diet-induced obesity.
      Title: Magel2 knockdown in hypothalamic POMC neurons innervating the medial amygdala reduces susceptibility to diet-induced obesity.
    3. Deficiency of the paternally inherited gene Magel2 alters the development of separation-induced vocalization and maternal behavior in mice.
      Title: Deficiency of the paternally inherited gene Magel2 alters the development of separation-induced vocalization and maternal behavior in mice.
    4. Colocalization of Oxtr with Prader-Willi syndrome transcripts in the trigeminal ganglion of neonatal mice.
      Title: Colocalization of Oxtr with Prader-Willi syndrome transcripts in the trigeminal ganglion of neonatal mice.
    5. Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production.
      Title: Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production.
    6. Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.
      Title: Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.
    7. MAGEL2-deubiquitinase complex modulates the ubiquitination of circadian rhythm protein CRY1
      Title: A MAGEL2-deubiquitinase complex modulates the ubiquitination of circadian rhythm protein CRY1.
    8. Taken together, Magel2 plays a key role in modulating bone remodeling and mass in Prader-Willi syndrome by affecting N-oleoyl serine levels and activity.
      Title: Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.
    9. Study shows that inactivation of Magel2 suppresses oxytocin neurons through synaptic excitation-inhibition imbalance.
      Title: Inactivation of Magel2 suppresses oxytocin neurons through synaptic excitation-inhibition imbalance.
    10. Our results suggest that POMC neuron activity profile as well as its communication with downstream targets is significantly compromised, while AGRP neuron function with respect to short term feeding is relatively unaffected in Magel2 deficiency.
      Title: Impaired melanocortin pathway function in Prader-Willi syndrome gene-Magel2 deficient mice.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 
    • Targeted (2)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin-protein transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in Arp2/3 complex-mediated actin nucleation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in Arp2/3 complex-mediated actin nucleation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within positive regulation of actin nucleation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in protein K63-linked ubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein K63-linked ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of circadian rhythm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde transport, endosome to Golgi ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in retrograde transport, endosome to Golgi ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of retromer complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of retromer complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    MAGE-like protein 2
    Names
    melanoma antigen, family L, 2
    melanoma antigen-like gene 2
    necdin-like 1
    protein nS7

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_013779.2 → NP_038807.4  MAGE-like protein 2

      Status: VALIDATED

      Source sequence(s)
      AC156555
      Consensus CDS
      CCDS52264.1
      UniProtKB/Swiss-Prot
      F8WIA8, Q9QZ04
      Related
      ENSMUSP00000079265.6, ENSMUST00000080403.7
      Conserved Domains (2) summary
      PHA03247
      Location:190 → 675
      PHA03247; large tegument protein UL36; Provisional
      pfam01454
      Location:1059 → 1223
      MAGE; MAGE family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      62026727..62031388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9QZ04.2 GenPept UniProtKB/Swiss-Prot:Q9QZ04

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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