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Aliases for MAGEL2 Gene

Aliases for MAGEL2 Gene

  • MAGE Family Member L2 2 3 5
  • Melanoma Antigen Family L2 2 3
  • Necdin-Like Protein 1 3 4
  • Protein NM15 3 4
  • NDNL1 3 4
  • MAGE-Like Protein 2 3
  • MAGE-Like 2 2
  • SHFYNG 3
  • PWLS 3
  • NM15 3

External Ids for MAGEL2 Gene

Previous HGNC Symbols for MAGEL2 Gene

  • NDNL1

Previous GeneCards Identifiers for MAGEL2 Gene

  • GC15M021024
  • GC15M016778
  • GC15M021306
  • GC15M021436
  • GC15M021439
  • GC15M023888
  • GC15M002024

Summaries for MAGEL2 Gene

Entrez Gene Summary 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. 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).

Additional gene information for MAGEL2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAGEL2 Gene

Genomics for MAGEL2 Gene

Regulatory Elements for MAGEL2 Gene

Enhancers for MAGEL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H023689 1.1 Ensembl ENCODE 10.8 -42.9 -42899 2 FOXA2 MLX DMAP1 RAD21 ZSCAN9 RARA CREM MIXL1 THAP11 HMG20B MAGEL2 MKRN3 NDN PIR60386
GH15H023869 0.7 ENCODE 10.4 -221.8 -221753 0 TBP RFX1 SAP130 SP5 NFIA NRF1 USF2 KAT8 NFIC POLR2A MAGEL2 PIR37880 GC15P024107 PIR61948
GH15H023685 0.6 ENCODE 11.6 -39.0 -38956 2 MXI1 L3MBTL2 POLR2A NRF1 ZFX SPI1 GABPA NDN MAGEL2
GH15H023647 0.5 ENCODE 0.7 0.0 -38 1 CTCF MXI1 POLR2A MAGEL2 NDN
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAGEL2 on UCSC Golden Path with GeneCards custom track

Promoters for MAGEL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000074051 45 799 POLR2A

Genomic Location for MAGEL2 Gene

Chromosome:
15
Start:
23,643,544 bp from pter
End:
23,647,846 bp from pter
Size:
4,303 bases
Orientation:
Minus strand

Genomic View for MAGEL2 Gene

Genes around MAGEL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAGEL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAGEL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAGEL2 Gene

Proteins for MAGEL2 Gene

  • Protein details for MAGEL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJ55-MAGL2_HUMAN
    Recommended name:
    MAGE-like protein 2
    Protein Accession:
    Q9UJ55
    Secondary Accessions:
    • H0YDD5

    Protein attributes for MAGEL2 Gene

    Size:
    1249 amino acids
    Molecular mass:
    132822 Da
    Quaternary structure:
    • Interacts with TRIM27. Interacts with VPS35; leading to recruitment at retromer-containing endosomes. Interacts with ARNTL/BMAL1 and PER2 (By similarity).
    Miscellaneous:
    • Imprinted, expressed from the paternal chromosome only.
    SequenceCaution:
    • Sequence=AAG28577.1; Type=Frameshift; Positions=730; Evidence={ECO:0000305}; Sequence=CAB62393.1; Type=Frameshift; Positions=730; Evidence={ECO:0000305};

neXtProt entry for MAGEL2 Gene

Post-translational modifications for MAGEL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAGEL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAGEL2 Gene

Domains & Families for MAGEL2 Gene

Gene Families for MAGEL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MAGEL2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MAGEL2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MAGEL2: view

No data available for UniProtKB/Swiss-Prot for MAGEL2 Gene

Function for MAGEL2 Gene

Molecular function for MAGEL2 Gene

GENATLAS Biochemistry:
melanoma antigen (MAGE)-like 2,intronless located in the PWCR region,(paternally) expressed in brain,fetal and adult,maternally imprinted
UniProtKB/Swiss-Prot Function:
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).

Phenotypes From GWAS Catalog for MAGEL2 Gene

Gene Ontology (GO) - Molecular Function for MAGEL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IMP 23452853
GO:0005515 protein binding IPI 23452853
genes like me logo Genes that share ontologies with MAGEL2: view
genes like me logo Genes that share phenotypes with MAGEL2: view

Human Phenotype Ontology for MAGEL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAGEL2 Gene

MGI Knock Outs for MAGEL2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAGEL2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MAGEL2 Gene

Localization for MAGEL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAGEL2 Gene

Early endosome. Cytoplasm. Nucleus. Note=Recruited to retromer-containing endosomes via interaction with VPS35. Colocalizes with CLOCK and ARNTL/BMLA1 in the cytoplasm, and with PER2 in the cytoplasm and nucleus (By similarity). {ECO:0000250 UniProtKB:Q9QZ04, ECO:0000269 PubMed:23452853}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAGEL2 gene
Compartment Confidence
nucleus 5
endosome 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MAGEL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IDA,IEA 23452853
GO:0005769 early endosome IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with MAGEL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MAGEL2 Gene

Pathways & Interactions for MAGEL2 Gene

genes like me logo Genes that share pathways with MAGEL2: view

Pathways by source for MAGEL2 Gene

1 BioSystems pathway for MAGEL2 Gene

Gene Ontology (GO) - Biological Process for MAGEL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006810 transport IEA --
GO:0034314 Arp2/3 complex-mediated actin nucleation IDA 23452853
GO:0042147 retrograde transport, endosome to Golgi IDA 23452853
genes like me logo Genes that share ontologies with MAGEL2: view

No data available for SIGNOR curated interactions for MAGEL2 Gene

Drugs & Compounds for MAGEL2 Gene

No Compound Related Data Available

Transcripts for MAGEL2 Gene

mRNA/cDNA for MAGEL2 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(32) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MAGEL2 Gene

MAGE-like 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAGEL2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MAGEL2 Gene

No ASD Table

Relevant External Links for MAGEL2 Gene

GeneLoc Exon Structure for
MAGEL2
ECgene alternative splicing isoforms for
MAGEL2

Expression for MAGEL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAGEL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAGEL2 Gene

This gene is overexpressed in Brain - Hypothalamus (x12.3), Pituitary (x7.4), and Brain - Nucleus accumbens (basal ganglia) (x4.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAGEL2 Gene



NURSA nuclear receptor signaling pathways regulating expression of MAGEL2 Gene:

MAGEL2

SOURCE GeneReport for Unigene cluster for MAGEL2 Gene:

Hs.141496

mRNA Expression by UniProt/SwissProt for MAGEL2 Gene:

Q9UJ55-MAGL2_HUMAN
Tissue specificity: Expressed in placenta, fetal and adult brain. Not detected in heart and small intestine, very low levels in fibroblasts. Not expressed in brain of a Prader-Willi patient.

Evidence on tissue expression from TISSUES for MAGEL2 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAGEL2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • pharynx
  • pituitary gland
  • skull
Thorax:
  • breast
  • heart
Abdomen:
  • intestine
  • large intestine
Pelvis:
  • ovary
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with MAGEL2: view

Primer Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for MAGEL2 Gene

Orthologs for MAGEL2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAGEL2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia LOC100684492 33
  • 85.69 (n)
MAGEL2 34
  • 44 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAGEL2 33 34
  • 80.83 (n)
rat
(Rattus norvegicus)
Mammalia Magel2 33
  • 76.15 (n)
mouse
(Mus musculus)
Mammalia Magel2 33 16 34
  • 73.89 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 45 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 41 (a)
OneToMany
chicken
(Gallus gallus)
Aves MAGE 34
  • 43 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 39 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ndnl2 34
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToMany
Species where no ortholog for MAGEL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAGEL2 Gene

ENSEMBL:
Gene Tree for MAGEL2 (if available)
TreeFam:
Gene Tree for MAGEL2 (if available)

Paralogs for MAGEL2 Gene

Variants for MAGEL2 Gene

Sequence variations from dbSNP and Humsavar for MAGEL2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs398122415 Pathogenic 23,646,091(-) GCAGG(-/T)ACCCG reference, frameshift-variant
rs398122416 Pathogenic 23,645,941(-) GATTC(-/C)AACGT reference, frameshift-variant
rs398122417 Pathogenic 23,644,561(-) TAGAT(-/AT)CATCA reference, frameshift-variant
rs398122418 Pathogenic 23,644,619(-) CTGTC(C/T)AGCGC reference, stop-gained
rs752097874 Pathogenic 23,645,747(+) CTGCT(A/C/G/T)GGGGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MAGEL2 Gene

Variant ID Type Subtype PubMed ID
esv3892632 CNV gain 25118596
nsv1038443 CNV gain 25217958
nsv1042668 CNV loss 25217958
nsv568341 CNV gain 21841781

Variation tolerance for MAGEL2 Gene

Gene Damage Index Score: 5.13; 69.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAGEL2 Gene

Human Gene Mutation Database (HGMD)
MAGEL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAGEL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAGEL2 Gene

Disorders for MAGEL2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for MAGEL2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MAGL2_HUMAN
  • Schaaf-Yang syndrome (SHFYNG) [MIM:615547]: A disease characterized by clinical features of Prader-Willi syndrome, including neonatal hypotonia with poor suck, feeding problems in infancy, obesity, developmental delay, short stature, and hypogonadism. Additionally, patients manifest autism spectrum disorder. Some patients have dysmorphic facial features. {ECO:0000269 PubMed:24076603}. Note=The disease is caused by mutations affecting the gene represented in this entry. All mutations occurred on the paternal allele.

Relevant External Links for MAGEL2

Genetic Association Database (GAD)
MAGEL2
Human Genome Epidemiology (HuGE) Navigator
MAGEL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAGEL2
genes like me logo Genes that share disorders with MAGEL2: view

No data available for Genatlas for MAGEL2 Gene

Publications for MAGEL2 Gene

  1. The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. (PMID: 10556298) Boccaccio I … Muscatelli F (Human molecular genetics 1999) 2 3 4 60
  2. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. (PMID: 24076603) Schaaf CP … Yang Y (Nature genetics 2013) 3 4 60
  3. Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination. (PMID: 23452853) Hao YH … Potts PR (Cell 2013) 3 4 60
  4. MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases. (PMID: 20864041) Doyle JM … Potts PR (Molecular cell 2010) 3 4 60
  5. Lack of association between MAGEL2 and schizophrenia and mood disorders in the Japanese population. (PMID: 20467835) Fukuo Y … Iwata N (Neuromolecular medicine 2010) 3 45 60

Products for MAGEL2 Gene

Sources for MAGEL2 Gene

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