Seroatlas · Human Serome Atlas

MAGEL2

MAGE-like protein 2

Also known as: MAGL2_HUMAN, NDNL1, nM15

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UJ55
Gene: MAGEL2
Ensembl: ENSG00000254585
Chromosome: 15
Canonical length: 1249 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1249 residues, UniProt reviewed canonical sequence.

>Q9UJ55|MAGEL2
     1  MSQLSKNLGD SSPPAEAPKP PVYSRPTVLM RAPPASSRAP PVPWDPPPID LQASLAAWQA
    61  PQPAWEAPQG QLPAPVVPMT QPPALGGPIV PAPPLGGPMG KPPTPGVLMV HPPPPGAPMA
   121  QPPTPGVLMV HPSAPGAPMA HPPPPGTPMS HPPPPGTPMA HPPPPGTPMA HPPPPGTPMV
   181  HPPPPGTPMA HPPPPGTPMA HPPPPGTPMA HPPPPGTPMA HPPPPGTPMA QPPAPGVLMA
   241  QPLTPGVLMV QPAAPGAPMV QPPPAAMMTQ PQPSGAPMAK PPGPGVLMIH PPGARAPMTQ
   301  PPASGAPMAQ PAAPPAQPMA PPAQPMASWA PQAQPLILQI QSQVIRAPPQ VPQGPQAPPA
   361  QLATPPGWQA TSPGWQATQQ GWQATPLTWQ TTQVTWQAPA VTWQVPPPMR QGPPPIRPGP
   421  PPIRPGPPPV RQAPPLIRQA PPVIRQAPPV IRQAPPVIRQ APAVIRQAPP VIRQAPPVIR
   481  QAPPVIRQAP PLIRQAPPPI RPAPQVLATQ PPLWQALPPP PPLRQAPQAR LPAPQVQAAP
   541  QVPTAPPATQ VPAAPPAGPQ VPQPVLPAPL SAPLSAPQAV HCPSIIWQAP KGQPPVPHEI
   601  PTSMEFQEVQ QTQALAWQAQ KAPTHIWQPL PAQEAQRQAP PLVQLEQPFQ GAPPSQKAVQ
   661  IQLPPQQAQA SGPQAEVPTL PLQPSWQAPP AVLQAQPGPP VAAANFPLGS AKSLMTPSGE
   721  CRASSIDRRG SSKERRTSSK ERRAPSKDRM IFAATFCAPK AVSAARAHLP AAWKNLPATP
   781  ETFAPSSSVF PATSQFQPAS LNAFKGPSAA SETPKSLPYA LQDPFACVEA LPAVPWVPQP
   841  NMNASKASQA VPTFLMATAA APQATATTQE ASKTSVEPPR RSGKATRKKK HLEAQEDSRG
   901  HTLAFHDWQG PRPWENLNLS DWEVQSPIQV SGDWEHPNTP RGLSGWEGPS TSRILSGWEG
   961  PSASWALSAW EGPSTSRALG LSESPGSSLP VVVSEVASVS PGSSATQDNS KVEAQPLSPL
  1021  DERANALVQF LLVKDQAKVP VQRSEMVKVI LREYKDECLD IINRANNKLE CAFGYQLKEI
  1081  DTKNHAYIII NKLGYHTGNL VASYLDRPKF GLLMVVLSLI FMKGNCVRED LIFNFLFKLG
  1141  LDVRETNGLF GNTKKLITEV FVRQKYLEYR RIPYTEPAEY EFLWGPRAFL ETSKMLVLRF
  1201  LAKLHKKDPQ SWPFHYLEAL AECEWEDTDE DEPDTGDSAH GPTSRPPPR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAGEL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.63
Highest tissue expression: 15 nTPM

Expression across tissuesHPA

Tissue

hypothalamus: 15 nTPM
pituitary gland: 8.3 nTPM
basal ganglia: 7.7 nTPM
cervix: 2.8 nTPM
cerebral cortex: 2.5 nTPM
amygdala: 1.8 nTPM

Single-cell type

other brain neurons: 24 nCPM
brain inhibitory neurons: 9.2 nCPM
oligodendrocyte progenitor cells: 3.4 nCPM
brain excitatory neurons: 3.2 nCPM
ependymal cells: 0.8 nCPM
oligodendrocytes: 0.5 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

hypothalamus: 55 nTPM
pons: 14 nTPM
cerebral cortex: 12 nTPM
basal ganglia: 12 nTPM
medulla oblongata: 10 nTPM
midbrain: 8.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAGEL2.

Disease | AllUniProt

Conditions MAGEL2 is implicated in, by any mechanism.

Schaaf-Yang syndrome (SHFYNG) MIM:615547

Disease | GeneticClinVar

96 pathogenic / likely-pathogenic of 1,367 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Schaaf-Yang syndrome
Inborn genetic diseases
MAGEL2-related disorder
Prader-Willi syndrome
Developmental disorder

Disease | ImmuneIEDB

Conditions an epitope on MAGEL2 was assayed in.

pancreatic ductal adenocarcinoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.31
gnomAD pLI: 0.98
gnomAD missense Z: -0.56

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

ubiquitin-protein transferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MAGEL2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MAGEL2 as an antibody target. Whether an autoantibody or antibody against MAGEL2 could matter depends on whether native MAGEL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MAGEL2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MAGEL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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