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

Gene ID: 54551, updated on 20-Dec-2019

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

Genomic context

See MAGEL2 in Genome Data Viewer
Location:
15q11.2
Exon count:
1
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (23643549..23647867, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (23888696..23892993, 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
Prader-Willi syndrome
MedGen: C0032897 OMIM: 176270 GeneReviews: Prader-Willi Syndrome
Compare labs
Schaaf-yang syndrome
MedGen: C3809877 OMIM: 615547 GeneReviews: Not available
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

NHGRI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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)

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 109.20191205

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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