Aliases for MAGEL2 Gene
External Ids for MAGEL2 Gene
Previous HGNC Symbols for MAGEL2 Gene
Previous GeneCards Identifiers for MAGEL2 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]
GeneCards Summary for MAGEL2 Gene
MAGEL2 (MAGE Family Member L2) is a Protein Coding gene. Diseases associated with MAGEL2 include Schaaf-Yang Syndrome and Prader-Willi Syndrome. Among its related pathways are Circadian rythm related genes. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is MAGED1.
UniProtKB/Swiss-Prot for MAGEL2 Gene
Probably enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, possibly through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Acts as a regulator of retrograde transport via its interaction with VPS35. Recruited to retromer-containing endosomes and promotes the formation of Lys-63-linked polyubiquitin chains at Lys-220 of WASHC1 together with TRIM27, leading to promote endosomal F-actin assembly (PubMed:23452853). Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Significantly promotes the cytoplasmic accumulation of CLOCK (By similarity).