AutismKB 2.0

Annotation Details for MAGEL2


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Basic Information Top
Gene Symbol:MAGEL2 ( NDNL1,nM15 )
Gene Full Name: MAGE-like 2
Band: 15q11.2
Quick LinksEntrez ID:54551; OMIM: 605283; Uniprot ID:; ENSEMBL ID: ; HGNC ID: 6814
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634ISS-nucleus-
GO:0005768IDA-endosome23452853
GO:0005769IEA-early endosome-
GO:0005829IEA-cytosol-
GO:0030904IDAcolocalizes_withretromer complex23452853
GO ID Evidence Qualifier GO_term References
GO:0004842IMP-ubiquitin-protein transferase activity23452853
GO:0005515IPI-protein binding23452853
GO ID Evidence Qualifier GO_term References
GO:0006351IEA-transcription, DNA-templated-
GO:0034314IDA-Arp2/3 complex-mediated actin nucleation23452853
GO:0042147IDA-retrograde transport, endosome to Golgi23452853
GO:0042752ISS-regulation of circadian rhythm-
GO:0045892ISS-negative regulation of transcription, DNA-templated-
GO:0048511IEA-rhythmic process-
GO:0051127IEA-positive regulation of actin nucleation-
GO:0070534IMP-protein K63-linked ubiquitination23452853
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
MAGEL2rs4480754, rs850815, rs8920 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1351648
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018