Cited by 81Cellular transport and secretionUbiquitin and proteasome pathwaysGenetic Syndromes and Imprinting

Cellular and disease functions of the Prader–Willi Syndrome gene MAGEL2

Open access
Tacer, Klementina Fon, Potts, Patrick Ryan·2017·Biochemical Journal

Abstract

Melanoma antigen L2 (MAGEL2 or MAGE-L2) is a member of the MAGE family of ubiquitin ligase regulators. It is maternally imprinted and often paternally deleted or mutated in the related neurodevelopmental syndromes, Prader–Willi Syndrome (PWS) and Schaaf–Yang Syndrome (SHFYNG). MAGEL2 is highly expressed in the hypothalamus and plays an important role in a fundamental cellular process that recycles membrane proteins from endosomes through the retromer sorting pathway. MAGEL2 is part of a multi-subunit protein complex consisting of MAGEL2, the TRIM27 E3 ubiquitin ligase, and the USP7 deubiquitinating enzyme. The MAGEL2-USP7-TRIM27 (or MUST) complex facilitates the retromer recycling pathway through ubiquitination and activation of the WASH actin nucleation promoting factor. This review provides an overview of the MAGE protein family of ubiquitin ligases regulators and details the molecular and cellular role of MAGEL2 in ubiquitination, actin regulation and endosomal sorting processes, as well as MAGEL2 implications in PWS and SHFYNG disorders. The physiological functions of MAGEL2, elucidated through the study of Magel2 knockout mouse models, are also discussed.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1042/bcj20160616

Cites

129 of 129 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Research works printed but not linked: 2

  1. [13]López-Sánchez N González-Fernández Z Niinobe M Yoshikawa K Frade JM Single mage gene in the chicken genome encodes CMage, a protein with functional similarities to mammalian type II Mage proteins Physiological Genomics 2007 30 2 156 71 17374844
  2. [83]Zaman MMU Nomura T Takagi T Okamura T Jin W Shinagawa T Ubiquitination-Deubiquitination by the TRIM27-USP7 Complex Regulates Tumor Necrosis Factor Alpha-Induced Apoptosis Molecular and Cellular Biology 2013 33 24 4971 84 24144979 PMC3889550

Cited by

Sorted by citations

Authors
Tacer, K. F., & Potts, P. R.
Affiliations
St. Jude Children's Research Hospital (US)
Corresponding author
Potts, Patrick Ryan
Venue
Biochemical Journal
Published
2017-06-16
Volume
474
Issue
13
Pages
2177-2190
ISSN
  • 0264-6021 (ISSN-L)
  • 1470-8728
OpenAlex
W2626482316
Cited by
81
References
129
Citations by year
2026: 5 · 2025: 9 · 2024: 9 · 2023: 7 · 2022: 14 · 2021: 11 · 2020: 13 · 2019: 8 · 2018: 5
FWCI
0.83
Type
journal article
Language
en
Open access
Locations
  • Biochemical Journal (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
National Institute of General Medical Sciences (R01GM111332)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ubiquitin and proteasome pathways
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Keywords
MAGEL2, Prader-Willi syndrome, Schaaf-Yang syndrome, genomic imprinting, endosomal recycling, TRIM27, USP7, ubiquitination, actin regulation, hypothalamus
MeSH terms
Humans, Prader-Willi Syndrome, Proteins, Endosomes, Protein Transport, Intracellular Signaling Peptides and Proteins, Ubiquitination, Intrinsically Disordered Proteins

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review