Magel2 MAGE family member L2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Magel2provided by MGI
Official Full Name: MAGE family member L2provided by MGI
Primary source: MGI:MGI:1351648
See related: Ensembl:ENSMUSG00000056972 AllianceGenome:MGI:1351648
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ns7; nM15; NDNL1; Mage-l2
Summary: Predicted to enable ubiquitin-protein transferase activity. Involved in negative regulation of transcription, DNA-templated and regulation of circadian rhythm. Acts upstream of or within positive regulation of actin nucleation. Located in cytoplasm and nucleus. Is expressed in several structures, including brain; egg cylinder; future spinal cord; limb bud; and reproductive system. Used to study Prader-Willi syndrome. Human ortholog(s) of this gene implicated in Schaaf-Yang syndrome. Orthologous to human MAGEL2 (MAGE family member L2). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human all
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Genomic context

Location:: 7 C; 7 34.37 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (62026727..62031388)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (62376979..62381640)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Early life oxytocin treatment improves thermo-sensory reactivity and maternal behavior in neonates lacking the autism-associated gene Magel2.
Title: Early life oxytocin treatment improves thermo-sensory reactivity and maternal behavior in neonates lacking the autism-associated gene Magel2.
Magel2 knockdown in hypothalamic POMC neurons innervating the medial amygdala reduces susceptibility to diet-induced obesity.
Title: Magel2 knockdown in hypothalamic POMC neurons innervating the medial amygdala reduces susceptibility to diet-induced obesity.
Deficiency of the paternally inherited gene Magel2 alters the development of separation-induced vocalization and maternal behavior in mice.
Title: Deficiency of the paternally inherited gene Magel2 alters the development of separation-induced vocalization and maternal behavior in mice.
Colocalization of Oxtr with Prader-Willi syndrome transcripts in the trigeminal ganglion of neonatal mice.
Title: Colocalization of Oxtr with Prader-Willi syndrome transcripts in the trigeminal ganglion of neonatal mice.
Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production.
Title: Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production.
Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.
Title: Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.
MAGEL2-deubiquitinase complex modulates the ubiquitination of circadian rhythm protein CRY1
Title: A MAGEL2-deubiquitinase complex modulates the ubiquitination of circadian rhythm protein CRY1.
Taken together, Magel2 plays a key role in modulating bone remodeling and mass in Prader-Willi syndrome by affecting N-oleoyl serine levels and activity.
Title: Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.
Study shows that inactivation of Magel2 suppresses oxytocin neurons through synaptic excitation-inhibition imbalance.
Title: Inactivation of Magel2 suppresses oxytocin neurons through synaptic excitation-inhibition imbalance.
Our results suggest that POMC neuron activity profile as well as its communication with downstream targets is significantly compromised, while AGRP neuron function with respect to short term feeding is relatively unaffected in Magel2 deficiency.
Title: Impaired melanocortin pathway function in Prader-Willi syndrome gene-Magel2 deficient mice.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Magel2 (e-PCR), detects polymorphism
- UniSTS:158739

Magel2 (e-PCR), detects polymorphism
- UniSTS:547453

Magel2 (e-PCR), detects polymorphism
- UniSTS:532144

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Arp2/3 complex-mediated actin nucleation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of actin nucleation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein K63-linked ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in regulation of circadian rhythm	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde transport, endosome to Golgi	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within rhythmic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of retromer complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: MAGE-like protein 2

Names: melanoma antigen, family L, 2; melanoma antigen-like gene 2; necdin-like 1; protein nS7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_013779.2 → NP_038807.4 MAGE-like protein 2

Status: VALIDATED

Source sequence(s)

AC156555

Consensus CDS

CCDS52264.1

UniProtKB/Swiss-Prot

F8WIA8, Q9QZ04

Related

ENSMUSP00000079265.6, ENSMUST00000080403.7

Conserved Domains (2) summary

PHA03247
Location:190 → 675

PHA03247; large tegument protein UL36; Provisional

pfam01454
Location:1059 → 1223

MAGE; MAGE family