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    MAGEL2 MAGE family member L2 [ Homo sapiens (human) ]

    Gene ID: 54551, updated on 22-Jun-2021

    Summary

    Official Symbol
    MAGEL2provided by HGNC
    Official Full Name
    MAGE family member L2provided by HGNC
    Primary source
    HGNC:HGNC:6814
    See related
    Ensembl:ENSG00000254585 MIM:605283
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PWLS; nM15; NDNL1; SHFYNG
    Summary
    Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010]
    Orthologs
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    Genomic context

    See MAGEL2 in Genome Data Viewer
    Location:
    15q11.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (23643549..23647867, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (23888696..23893014, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene microRNA 4508 Neighboring gene makorin ring finger protein 3 Neighboring gene necdin, MAGE family member Neighboring gene RNA, U6 small nuclear 741, pseudogene

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    GeneReviews: Not available
    Prader-Willi syndrome
    MedGen: C0032897 OMIM: 176270 GeneReviews: Prader-Willi Syndrome
    Compare labs
    Schaaf-Yang syndrome
    MedGen: C3809877 OMIM: 615547 GeneReviews: Schaaf-Yang Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2018-05-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2018-05-22)

    ClinGen Genome Curation Page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    MAGE-like protein 2
    Names
    melanoma antigen family L2
    necdin-like protein 1
    protein nM15

    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.

    Genomic

    1. NG_016776.1 RefSeqGene

      Range
      4980..9298
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1046

    mRNA and Protein(s)

    1. NM_019066.5NP_061939.3  MAGE-like protein 2

      Status: REVIEWED

      Source sequence(s)
      AC124309
      Consensus CDS
      CCDS73700.1
      UniProtKB/Swiss-Prot
      Q9UJ55
      Related
      ENSP00000497810.1, ENST00000650528.1
      Conserved Domains (3) summary
      pfam01454
      Location:10271195
      MAGE; MAGE family
      pfam06346
      Location:82235
      Drf_FH1; Formin Homology Region 1
      cl23807
      Location:135206
      WWbp; WW-domain ligand protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      23643549..23647867 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_021160017.1 Reference GRCh38.p13 PATCHES

      Range
      4591013..4595331 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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