NP_061939
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NCBI GenBank Nucleotide #
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UniProt Related Accession #
NCBI Official Full Name
MAGE-like protein 2
NCBI Official Synonym Full Names
melanoma antigen family L2
NCBI Protein Information
MAGE-like protein 2; MAGE-like 2; necdin-like protein 1; protein nM15
UniProt Protein Name
MAGE-like protein 2
UniProt Synonym Protein Names
Necdin-like protein 1; Protein nM15
UniProt Synonym Gene Names
UniProt Entry Name
MAGL2_HUMAN
NCBI Summary for MAGEL2
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]
UniProt Comments for MAGEL2
MAGE-L2: May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Interacts with TRIM27
Chromosomal Location of Human Ortholog: 15q11.2
Cellular Component: retromer complex; early endosome; nucleus; endosome
Molecular Function: protein binding; ubiquitin-protein ligase activity
Biological Process: transcription, DNA-dependent; rhythmic process; regulation of circadian rhythm; negative regulation of transcription, DNA-dependent; retrograde transport, endosome to Golgi
Disease: Prader-willi Syndrome; Prader-willi-like Syndrome
Research Articles on MAGEL2
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Organs/Tissues associated with anti-MAGEL2 antibody
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