• Gene id: 54551

Gene Summary

• Gene Symbol: MAGEL2   Gene   UCSC   Ensembl
• Aliases: NDNL1, PWLS, SHFYNG, nM15
• Gene name: MAGE family member L2
• Alternate names: MAGE-like protein 2, melanoma antigen family L2, necdin-like protein 1, protein nM15,
• Gene location: 15q11.2 (23647866: 23643548)     Exons: 1     NC_000015.10
• Gene summary(Entrez): 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 term
• OMIM: 605283

Protein Summary

• Protein general information: Q9UJ55  
  • Name: MAGE like protein 2 (Necdin like protein 1) (Protein nM15)
  • Length: 1249  
  • Mass: 132822
  • 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. {ECO
• Sequence:

  MSQLSKNLGDSSPPAEAPKPPVYSRPTVLMRAPPASSRAPPVPWDPPPIDLQASLAAWQAPQPAWEAPQGQLPAP
  VVPMTQPPALGGPIVPAPPLGGPMGKPPTPGVLMVHPPPPGAPMAQPPTPGVLMVHPSAPGAPMAHPPPPGTPMS
  HPPPPGTPMAHPPPPGTPMAHPPPPGTPMVHPPPPGTPMAHPPPPGTPMAHPPPPGTPMAHPPPPGTPMAHPPPP
  GTPMAQPPAPGVLMAQPLTPGVLMVQPAAPGAPMVQPPPAAMMTQPQPSGAPMAKPPGPGVLMIHPPGARAPMTQ
  PPASGAPMAQPAAPPAQPMAPPAQPMASWAPQAQPLILQIQSQVIRAPPQVPQGPQAPPAQLATPPGWQATSPGW
  QATQQGWQATPLTWQTTQVTWQAPAVTWQVPPPMRQGPPPIRPGPPPIRPGPPPVRQAPPLIRQAPPVIRQAPPV
  IRQAPPVIRQAPAVIRQAPPVIRQAPPVIRQAPPVIRQAPPLIRQAPPPIRPAPQVLATQPPLWQALPPPPPLRQ
  APQARLPAPQVQAAPQVPTAPPATQVPAAPPAGPQVPQPVLPAPLSAPLSAPQAVHCPSIIWQAPKGQPPVPHEI
  PTSMEFQEVQQTQALAWQAQKAPTHIWQPLPAQEAQRQAPPLVQLEQPFQGAPPSQKAVQIQLPPQQAQASGPQA
  EVPTLPLQPSWQAPPAVLQAQPGPPVAAANFPLGSAKSLMTPSGECRASSIDRRGSSKERRTSSKERRAPSKDRM
  IFAATFCAPKAVSAARAHLPAAWKNLPATPETFAPSSSVFPATSQFQPASLNAFKGPSAASETPKSLPYALQDPF
  ACVEALPAVPWVPQPNMNASKASQAVPTFLMATAAAPQATATTQEASKTSVEPPRRSGKATRKKKHLEAQEDSRG
  HTLAFHDWQGPRPWENLNLSDWEVQSPIQVSGDWEHPNTPRGLSGWEGPSTSRILSGWEGPSASWALSAWEGPST
  SRALGLSESPGSSLPVVVSEVASVSPGSSATQDNSKVEAQPLSPLDERANALVQFLLVKDQAKVPVQRSEMVKVI
  LREYKDECLDIINRANNKLECAFGYQLKEIDTKNHAYIIINKLGYHTGNLVASYLDRPKFGLLMVVLSLIFMKGN
  CVREDLIFNFLFKLGLDVRETNGLFGNTKKLITEVFVRQKYLEYRRIPYTEPAEYEFLWGPRAFLETSKMLVLRF
  LAKLHKKDPQSWPFHYLEALAECEWEDTDEDEPDTGDSAHGPTSRPPPR

• Structural information:
  • Protein Domains: (1020..121-)
    (/note="MAGE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00127"-)
  • Interpro: IPR037445  IPR041898  IPR041899  IPR002190  
  • Prosite: PS50838
  • STRING: ENSP00000433433
• Other Databases: GeneCards:  MAGEL2  Malacards:  MAGEL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034314	Arp2/3 complex-mediated actin nucleation	IDA	biological process
GO:0005768	endosome	IDA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IDA	biological process
GO:0030904	retromer complex	IDA	colocalizes with
GO:0070534	protein K63-linked ubiquitination	IMP	biological process
GO:0004842	ubiquitin-protein transferase activity	IMP	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0042752	regulation of circadian rhythm	ISS	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0051127	positive regulation of actin nucleation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component

Diseases

Associated diseases	References
Schaaf-Yang syndrome	KEGG:H02325
Schaaf-Yang syndrome	KEGG:H02325
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray