MAGEL2 (MAGE family member L2)

2015-02-01  

Identity

HGNC
LOCATION
15q11.2
LOCUSID
ALIAS
NDNL1,PWLS,SHFYNG,nM15

Other Information

Locus ID:

NCBI: 54551
MIM: 605283
HGNC: 6814
Ensembl: ENSG00000254585

Variants:

dbSNP: 54551
ClinVar: 54551
TCGA: ENSG00000254585
COSMIC: MAGEL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000254585ENST00000650528Q9UJ55

Expression (GTEx)

0
5
10
15
20

References

Pubmed IDYearTitleCitations
240766032013Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.84
234528532013Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination.75
105562981999The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.48
271958162017The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.27
263653402015Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.19
259266242015Progressive postnatal decline in leptin sensitivity of arcuate hypothalamic neurons in the Magel2-null mouse model of Prader-Willi syndrome.14
282815712017A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.12
295994192018Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.9
293897152018Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.6
293435592018A genetic locus for paranoia.4

Citation

Dessen P

MAGEL2 (MAGE family member L2)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55067/magel2