Property Summary

NCBI Gene PubMed Count 9
Grant Count 4
R01 Count 3
Funding $248,397.58
PubMed Score 71.17
PubTator Score 16.61

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
adrenocortical carcinoma 1.695 0.023
posterior fossa group B ependymoma -1.400 0.000
pituitary cancer -1.800 0.007
psoriasis -1.200 0.000
facioscapulohumeral dystrophy 1.900 0.007

Synonym

Accession Q9UJ55 H0YDD5
Symbols PWLS
nM15
NDNL1
SHFYNG

Gene

PANTHER Protein Class (1)

Gene RIF (7)

PMID Text
26365340 Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
25926624 A similar progressive loss of leptin sensitivity caused by loss of MAGEL2 in children with Prader-Willi syndrome could explain the delayed onset of increased appetite and weight gain in this complex disorder.
24076603 MAGEL2 is a new gene causing complex autism spectrum disorder and MAGEL2 loss of function can contribute to several aspects of the Prader-Willi syndrome phenotype.
23452853 These findings provide a cellular and molecular function for MAGE-L2-TRIM27 in retrograde transport, including an unappreciated role of K63-linked ubiquitination and identification of an activating signal of the WASH regulatory complex.
20467835 Results suggest that MAGEL2 may not play a role in the pathophysiology of schizophrenia and mood disorders in the Japanese population.
20467835 Observational study of gene-disease association. (HuGE Navigator)
10556298 MAGEL2 gene is imprinted, with preferential expression from the paternal allele.

AA Sequence

MSQLSKNLGDSSPPAEAPKPPVYSRPTVLMRAPPASSRAPPVPWDPPPIDLQASLAAWQAPQPAWEAPQG      1 - 70
QLPAPVVPMTQPPALGGPIVPAPPLGGPMGKPPTPGVLMVHPPPPGAPMAQPPTPGVLMVHPSAPGAPMA     71 - 140
HPPPPGTPMSHPPPPGTPMAHPPPPGTPMAHPPPPGTPMVHPPPPGTPMAHPPPPGTPMAHPPPPGTPMA    141 - 210
HPPPPGTPMAHPPPPGTPMAQPPAPGVLMAQPLTPGVLMVQPAAPGAPMVQPPPAAMMTQPQPSGAPMAK    211 - 280
PPGPGVLMIHPPGARAPMTQPPASGAPMAQPAAPPAQPMAPPAQPMASWAPQAQPLILQIQSQVIRAPPQ    281 - 350
VPQGPQAPPAQLATPPGWQATSPGWQATQQGWQATPLTWQTTQVTWQAPAVTWQVPPPMRQGPPPIRPGP    351 - 420
PPIRPGPPPVRQAPPLIRQAPPVIRQAPPVIRQAPPVIRQAPAVIRQAPPVIRQAPPVIRQAPPVIRQAP    421 - 490
PLIRQAPPPIRPAPQVLATQPPLWQALPPPPPLRQAPQARLPAPQVQAAPQVPTAPPATQVPAAPPAGPQ    491 - 560
VPQPVLPAPLSAPLSAPQAVHCPSIIWQAPKGQPPVPHEIPTSMEFQEVQQTQALAWQAQKAPTHIWQPL    561 - 630
PAQEAQRQAPPLVQLEQPFQGAPPSQKAVQIQLPPQQAQASGPQAEVPTLPLQPSWQAPPAVLQAQPGPP    631 - 700
VAAANFPLGSAKSLMTPSGECRASSIDRRGSSKERRTSSKERRAPSKDRMIFAATFCAPKAVSAARAHLP    701 - 770
AAWKNLPATPETFAPSSSVFPATSQFQPASLNAFKGPSAASETPKSLPYALQDPFACVEALPAVPWVPQP    771 - 840
NMNASKASQAVPTFLMATAAAPQATATTQEASKTSVEPPRRSGKATRKKKHLEAQEDSRGHTLAFHDWQG    841 - 910
PRPWENLNLSDWEVQSPIQVSGDWEHPNTPRGLSGWEGPSTSRILSGWEGPSASWALSAWEGPSTSRALG    911 - 980
LSESPGSSLPVVVSEVASVSPGSSATQDNSKVEAQPLSPLDERANALVQFLLVKDQAKVPVQRSEMVKVI    981 - 1050
LREYKDECLDIINRANNKLECAFGYQLKEIDTKNHAYIIINKLGYHTGNLVASYLDRPKFGLLMVVLSLI   1051 - 1120
FMKGNCVREDLIFNFLFKLGLDVRETNGLFGNTKKLITEVFVRQKYLEYRRIPYTEPAEYEFLWGPRAFL   1121 - 1190
ETSKMLVLRFLAKLHKKDPQSWPFHYLEALAECEWEDTDEDEPDTGDSAHGPTSRPPPR              1191 - 1249
//

Publication (11)

PMID Year Title
26365340 2015 Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
25926624 2015 Progressive postnatal decline in leptin sensitivity of arcuate hypothalamic neurons in the Magel2-null mouse model of Prader-Willi syndrome.
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
24076603 2013 Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
23452853 2013 Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination.
20864041 2010 MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases.
20467835 2010 Lack of association between MAGEL2 and schizophrenia and mood disorders in the Japanese population.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10915770 2000 Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype.
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