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Magel2 Gene Detail
Summary
  • Symbol
    Magel2
  • Name
    melanoma antigen, family L, 2
  • Synonyms
    Mage-l2, NDNL1, nM15, ns7
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351648
    NCBI Gene: 27385
Location & Maps
more
  • Sequence Map
    Chr7:62377010-62381640 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4631 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MAGEL2, MAGE family member L2
  • Vertebrate Orthologs
    6
  • Human Ortholog
    MAGEL2, MAGE family member L2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    NDNL1, nM15, PWLS, SHFYNG
  • Links
    NCBI Gene ID: 54551
    neXtProt AC: NX_Q9UJ55

  • Chr Location
    15q11.2; chr15:23643549-23647846 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Magel2 mouse models; 2 with human MAGEL2 associations

Human Disease Mouse Models
       Prader-Willi Syndrome; PWS   OMIM: 176270 View 1 model
       Schaaf-Yang Syndrome; SHFYNG   OMIM: 615547
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    24 phenotypes from 2 alleles in 3 genetic backgrounds
    1 images
    30 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    3
  • Transgenic
    1
  • Genomic Mutations
    4 involving Magel2
  • Incidental Mutations
Mice heterozygous for a null allele that is inherited paternally exhibit some postnatal lethality, reduced male fertility, abnormal circadian rhythm, and hypoactivity. Mice heterozygous for another paternal knock-out allele exhibit 50% neonatal lethalityassociated with weak suckling activity.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000059565 VEGA Gene Model | MGI Sequence Detail 4631 C57BL/6J ±  kb
transcript OTTMUST00000146085 VEGA | MGI Sequence Detail 4631 Not Applicable  
polypeptide OTTMUSP00000076114 VEGA | MGI Sequence Detail 1284 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    38 from dbSNP Build 142
  • PCR
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000010082 MAGE-like protein 2
  • InterPro Domains
    IPR002190 MAGE homology domain
Molecular
Reagents
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  • All nucleic 37
    Genomic 2
    cDNA 31
    Primer pair 4

    Microarray probesets 3
References
more
  • Summaries
    All 50
    Developmental Gene Expression 22
    Diseases 10
    Gene Ontology 6
    Phenotypes 30
  • Earliest
    J:58785 Boccaccio I, et al., The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. Hum Mol Genet. 1999 Dec;8(13):2497-505
  • Latest
    J:223804 Pravdivyi I, et al., Progressive postnatal decline in leptin sensitivity of arcuate hypothalamic neurons in the Magel2-null mouse model of Prader-Willi syndrome. Hum Mol Genet. 2015 Aug 1;24(15):4276-83

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory