MAGEL2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MAGEL2 |
| Official Name | MAGE family member L2 [Source:HGNC Symbol;Acc:HGNC:6814] |
| Ensembl ID | ENSG00000254585 |
| Bio databases IDs | |
| Aliases | MAGE family member L2 |
| Synonyms | AC270095.1, LOC681515, MAGE family member L2, NDNL1, nM15, ns7, PWLS, SHFYNG |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MAGEL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Formin Homology Region 1
- MAGE homology domain
- ubiquitin-protein transferase activity
- enzyme
- Proline-rich protein
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
- hormone
- actin
- D-glucose
- YTHDF2
disease
- Chitayat-Hall syndrome
- hereditary disorder
- Prader-Willi syndrome
- mental retardation
- developmental disorder
- neuroinflammation
- pervasive developmental disorder
- neurodevelopmental disorder
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAGEL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- rhythmic process
- negative regulation of transcription, DNA-dependent
- Arp2/3 complex-mediated actin nucleation
- protein K63-linked ubiquitination
- regulation of circadian rhythm
- retrograde transport, endosome to Golgi
- positive regulation of actin nucleation
Cellular Component
Where in the cell the gene product is active
- nucleus
- early endosome
- endosome
- retromer complex
- cytosol
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- protein binding