MAGEL2 MAGE family member L2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAGEL2provided by HGNC
Official Full Name: MAGE family member L2provided by HGNC
Primary source: HGNC:HGNC:6814
See related: Ensembl:ENSG00000254585 MIM:605283; AllianceGenome:HGNC:6814
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PWLS; nM15; NDNL1; SHFYNG
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 15q11.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (23643549..23647867, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (21377970..21382288, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (23888696..23893014, complement)

Chromosome 15 - NC_000015.10 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?

Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.
Title: Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Title: Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.
Title: Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.
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.
MAGEL2-related disorders: A study and case series.
Title: MAGEL2-related disorders: A study and case series.
We report MAGEL2 and L1CAM mutations in four pedigrees with variable Congenital hypopituitarism and arthrogryposis. Human embryonic expression analysis revealed MAGEL2 transcripts in the developing hypothalamus and ventral diencephalon at Carnegie stages (CSs) 19, 20, and 23 and in the Rathke pouch at CS20 and CS23. L1CAM was expressed in the developing hypothalamus, ventral diencephalon, and hindbrain (CS19, CS20, CS23).
Title: Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
a mutation, c.1996delC on the maternal imprinted gene MAGEL2 that was carried by the affected fetus and husband, leading to Schaaf-Yang syndrome.
Title: Sequencing XMET genes to promote genotype-guided risk assessment and precision medicine.
hitayat-Hall syndrome is caused by pathogenic variants in MAGEL2 and shares a common aetiology with the recently described Schaaf-Yang syndrome. The phenotype of MAGEL2-related disorders is expanded to include growth hormone deficiency as an important and treatable complication.
Title: Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
the single-nucleotide polymorphism rs850807, which is putatively functional and linked with MAGEL2 and NDN Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia
Title: A genetic locus for paranoia.
Genes encoding MAGEL2 partners, either in the retrograde transport or in the ubiquitination-deubiquitination complexes, are promising candidates as Opitz trigonocephaly C syndrome -causing genes.
Title: A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Prader-Willi syndrome MedGen: C0032897 OMIM: 176270 GeneReviews: Prader-Willi Syndrome	not available
Schaaf-Yang syndrome MedGen: C5575066 OMIM: 615547 GeneReviews: Schaaf-Yang Syndrome	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-05-22) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2018-05-22) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-protein transferase activity	IMP Inferred from Mutant Phenotype more info	PubMed

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

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of retromer complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: MAGE-like protein 2

Names: melanoma antigen family L2; necdin-like protein 1; protein nM15

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.

Genomic

NG_016776.1 RefSeqGene

Range

4980..9298

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1046

mRNA and Protein(s)

NM_019066.5 → NP_061939.3 MAGE-like protein 2

Status: REVIEWED

Source sequence(s)

AC124309

Consensus CDS

CCDS73700.1

UniProtKB/Swiss-Prot

H0YDD5, Q9UJ55

Related

ENSP00000497810.1, ENST00000650528.1

Conserved Domains (3) summary

pfam01454
Location:1027 → 1195

MAGE; MAGE family

pfam06346
Location:82 → 235

Drf_FH1; Formin Homology Region 1

cl23807
Location:135 → 206

WWbp; WW-domain ligand protein