LOCUS       NM_019066               4319 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens MAGE family member L2 (MAGEL2), mRNA.
ACCESSION   NM_019066
VERSION     NM_019066.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4319)
  AUTHORS   Heimdorfer,D., Vorleuter,A., Eschlbock,A., Spathopoulou,A.,
            Suarez-Cubero,M., Farhan,H., Reiterer,V., Spanjaard,M.,
            Schaaf,C.P., Huber,L.A., Kremser,L., Sarg,B., Edenhofer,F.,
            Geley,S., de Araujo,M.E.G. and Huettenhofer,A.
  TITLE     Truncated variants of MAGEL2 are involved in the etiologies of the
            Schaaf-Yang and Prader-Willi syndromes
  JOURNAL   Am J Hum Genet 111 (7), 1383-1404 (2024)
   PUBMED   38908375
  REMARK    GeneRIF: Truncated variants of MAGEL2 are involved in the
            etiologies of the Schaaf-Yang and Prader-Willi syndromes.
REFERENCE   2  (bases 1 to 4319)
  AUTHORS   Castilla-Vallmanya,L., Centeno-Pla,M., Serrano,M., Franco-Valls,H.,
            Martinez-Cabrera,R., Prat-Planas,A., Rojano,E., Ranea,J.A.G.,
            Seoane,P., Oliva,C., Paredes-Fuentes,A.J., Marfany,G., Artuch,R.,
            Grinberg,D., Rabionet,R., Balcells,S. and Urreizti,R.
  TITLE     Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to
            subcellular analyses of truncated MAGEL2
  JOURNAL   J Med Genet 60 (4), 406-415 (2023)
   PUBMED   36243518
  REMARK    GeneRIF: Advancing in Schaaf-Yang syndrome pathophysiology: from
            bedside to subcellular analyses of truncated MAGEL2.
REFERENCE   3  (bases 1 to 4319)
  AUTHORS   Reznik,D.L., Yang,M.V., Albelda de la Haza,P., Jain,A.,
            Spanjaard,M., Theiss,S., Schaaf,C.P., Malovannaya,A., Strong,T.V.,
            Veeraragavan,S. and Samaco,R.C.
  TITLE     Magel2 truncation alters select behavioral and physiological
            outcomes in a rat model of Schaaf-Yang syndrome
  JOURNAL   Dis Model Mech 16 (2) (2023)
   PUBMED   36637363
  REMARK    GeneRIF: Magel2 truncation alters select behavioral and
            physiological outcomes in a rat model of Schaaf-Yang syndrome.
REFERENCE   4  (bases 1 to 4319)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   5  (bases 1 to 4319)
  AUTHORS   Hao,Y.H., Doyle,J.M., Ramanathan,S., Gomez,T.S., Jia,D., Xu,M.,
            Chen,Z.J., Billadeau,D.D., Rosen,M.K. and Potts,P.R.
  TITLE     Regulation of WASH-dependent actin polymerization and protein
            trafficking by ubiquitination
  JOURNAL   Cell 152 (5), 1051-1064 (2013)
   PUBMED   23452853
  REMARK    GeneRIF: These findings provide a cellular and molecular function
            for MAGE-L2-TRIM27 in retrograde transport, including an
            unappreciated role of K63-linked ubiquitination and identification
            of an activating signal of the WASH regulatory complex.
REFERENCE   6  (bases 1 to 4319)
  AUTHORS   Doyle,J.M., Gao,J., Wang,J., Yang,M. and Potts,P.R.
  TITLE     MAGE-RING protein complexes comprise a family of E3 ubiquitin
            ligases
  JOURNAL   Mol Cell 39 (6), 963-974 (2010)
   PUBMED   20864041
REFERENCE   7  (bases 1 to 4319)
  AUTHORS   Fukuo,Y., Kishi,T., Okochi,T., Kitajima,T., Tsunoka,T.,
            Okumukura,T., Kinoshita,Y., Kawashima,K., Yamanouchi,Y.,
            Umene-Nakano,W., Naitoh,H., Inada,T., Yoshimura,R., Nakamura,J.,
            Ozaki,N. and Iwata,N.
  TITLE     Lack of association between MAGEL2 and schizophrenia and mood
            disorders in the Japanese population
  JOURNAL   Neuromolecular Med 12 (3), 285-291 (2010)
   PUBMED   20467835
  REMARK    GeneRIF: Results suggest that MAGEL2 may not play a role in the
            pathophysiology of schizophrenia and mood disorders in the Japanese
            population.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 4319)
  AUTHORS   Lee,S., Kozlov,S., Hernandez,L., Chamberlain,S.J., Brannan,C.I.,
            Stewart,C.L. and Wevrick,R.
  TITLE     Expression and imprinting of MAGEL2 suggest a role in Prader-willi
            syndrome and the homologous murine imprinting phenotype
  JOURNAL   Hum Mol Genet 9 (12), 1813-1819 (2000)
   PUBMED   10915770
REFERENCE   9  (bases 1 to 4319)
  AUTHORS   Boccaccio,I., Glatt-Deeley,H., Watrin,F., Roeckel,N., Lalande,M.
            and Muscatelli,F.
  TITLE     The human MAGEL2 gene and its mouse homologue are paternally
            expressed and mapped to the Prader-Willi region
  JOURNAL   Hum Mol Genet 8 (13), 2497-2505 (1999)
   PUBMED   10556298
  REMARK    GeneRIF: MAGEL2 gene is imprinted, with preferential expression
            from the paternal allele.
REFERENCE   10 (bases 1 to 4319)
  AUTHORS   Schaaf,C.P. and Marbach,F.
  TITLE     Schaaf-Yang Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   33570896
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124309.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_019066.4.
            
            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].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 10556298, 10915770
            MANE Ensembl match     :: ENST00000650528.1/ ENSP00000497810.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4319              AC124309.7         95402-99720
FEATURES             Location/Qualifiers
     source          1..4319
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     gene            1..4319
                     /gene="MAGEL2"
                     /gene_synonym="NDNL1; nM15; PWLS; SHFYNG"
                     /note="MAGE family member L2"
                     /db_xref="GeneID:54551"
                     /db_xref="HGNC:HGNC:6814"
                     /db_xref="MIM:605283"
     exon            1..4319
                     /gene="MAGEL2"
                     /gene_synonym="NDNL1; nM15; PWLS; SHFYNG"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..3875
                     /gene="MAGEL2"
                     /gene_synonym="NDNL1; nM15; PWLS; SHFYNG"
                     /note="protein nM15; necdin-like protein 1; melanoma
                     antigen family L2"
                     /codon_start=1
                     /product="MAGE-like protein 2"
                     /protein_id="NP_061939.3"
                     /db_xref="CCDS:CCDS73700.1"
                     /db_xref="GeneID:54551"
                     /db_xref="HGNC:HGNC:6814"
                     /db_xref="MIM:605283"
                     /translation="MSQLSKNLGDSSPPAEAPKPPVYSRPTVLMRAPPASSRAPPVPW
                     DPPPIDLQASLAAWQAPQPAWEAPQGQLPAPVVPMTQPPALGGPIVPAPPLGGPMGKP
                     PTPGVLMVHPPPPGAPMAQPPTPGVLMVHPSAPGAPMAHPPPPGTPMSHPPPPGTPMA
                     HPPPPGTPMAHPPPPGTPMVHPPPPGTPMAHPPPPGTPMAHPPPPGTPMAHPPPPGTP
                     MAHPPPPGTPMAQPPAPGVLMAQPLTPGVLMVQPAAPGAPMVQPPPAAMMTQPQPSGA
                     PMAKPPGPGVLMIHPPGARAPMTQPPASGAPMAQPAAPPAQPMAPPAQPMASWAPQAQ
                     PLILQIQSQVIRAPPQVPQGPQAPPAQLATPPGWQATSPGWQATQQGWQATPLTWQTT
                     QVTWQAPAVTWQVPPPMRQGPPPIRPGPPPIRPGPPPVRQAPPLIRQAPPVIRQAPPV
                     IRQAPPVIRQAPAVIRQAPPVIRQAPPVIRQAPPVIRQAPPLIRQAPPPIRPAPQVLA
                     TQPPLWQALPPPPPLRQAPQARLPAPQVQAAPQVPTAPPATQVPAAPPAGPQVPQPVL
                     PAPLSAPLSAPQAVHCPSIIWQAPKGQPPVPHEIPTSMEFQEVQQTQALAWQAQKAPT
                     HIWQPLPAQEAQRQAPPLVQLEQPFQGAPPSQKAVQIQLPPQQAQASGPQAEVPTLPL
                     QPSWQAPPAVLQAQPGPPVAAANFPLGSAKSLMTPSGECRASSIDRRGSSKERRTSSK
                     ERRAPSKDRMIFAATFCAPKAVSAARAHLPAAWKNLPATPETFAPSSSVFPATSQFQP
                     ASLNAFKGPSAASETPKSLPYALQDPFACVEALPAVPWVPQPNMNASKASQAVPTFLM
                     ATAAAPQATATTQEASKTSVEPPRRSGKATRKKKHLEAQEDSRGHTLAFHDWQGPRPW
                     ENLNLSDWEVQSPIQVSGDWEHPNTPRGLSGWEGPSTSRILSGWEGPSASWALSAWEG
                     PSTSRALGLSESPGSSLPVVVSEVASVSPGSSATQDNSKVEAQPLSPLDERANALVQF
                     LLVKDQAKVPVQRSEMVKVILREYKDECLDIINRANNKLECAFGYQLKEIDTKNHAYI
                     IINKLGYHTGNLVASYLDRPKFGLLMVVLSLIFMKGNCVREDLIFNFLFKLGLDVRET
                     NGLFGNTKKLITEVFVRQKYLEYRRIPYTEPAEYEFLWGPRAFLETSKMLVLRFLAKL
                     HKKDPQSWPFHYLEALAECEWEDTDEDEPDTGDSAHGPTSRPPPR"
     regulatory      4298..4303
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAGEL2"
                     /gene_synonym="NDNL1; nM15; PWLS; SHFYNG"
                     /note="hexamer: TATAAA"
     regulatory      4302..4307
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAGEL2"
                     /gene_synonym="NDNL1; nM15; PWLS; SHFYNG"
                     /note="hexamer: AATATA"
     polyA_site      4316
                     /gene="MAGEL2"
                     /gene_synonym="NDNL1; nM15; PWLS; SHFYNG"
     polyA_site      4319
                     /gene="MAGEL2"
                     /gene_synonym="NDNL1; nM15; PWLS; SHFYNG"
                     /note="major polyA site"
ORIGIN      
        1 acttcctatt cagcattcag cagggaggga gcctctgaac agccacgtag gcattctctt
       61 ctctctggag gaaaaggccc agcagctgtc cgaggaaaag acccaccagc tgtcagcaaa
      121 gggacatgtc gcagctaagt aagaatctgg gtgactcgag tcctccggcg gaggccccga
      181 agccgcctgt ctatagccgc cctacggttc tgatgcgggc cccgcccgct tcctcccggg
      241 ctccgccagt cccttgggat ccacctccaa ttgacttgca ggcttcattg gccgcttggc
      301 aggcacctca gcctgcctgg gaggccccac agggccagct gcccgccccg gtggttccga
      361 tgacccagcc tcctgcccta gggggcccga tagtcccggc tcccccgctg gggggcccga
      421 tgggtaagcc tccgactccc ggggtcctga tggtgcatcc tccacctccg ggagccccga
      481 tggcccagcc tccgaccccg ggagtcctga tggtgcatcc ttcagctccc ggagctccca
      541 tggcccatcc tcctcctccg gggaccccaa tgtcccaccc tccccctccg gggaccccaa
      601 tggcccatcc tcctcctccg gggaccccga tggcccatcc tcctcctccg gggaccccga
      661 tggtgcatcc tcctcctccg gggaccccga tggctcatcc tccccctccg gggacaccga
      721 tggctcatcc tccccctccg gggacaccga tggctcatcc tccacctccg gggacaccga
      781 tggctcatcc tccccctccg ggtacaccga tggcccagcc tccagctccg ggagtcctga
      841 tggcccagcc tctgactccg ggagtcctga tggtccagcc tgctgctccg ggagcaccga
      901 tggtccagcc gcctccagca gccatgatga cccagcctca gccttcagga gcaccgatgg
      961 ccaagcctcc aggtccagga gtcctgatga ttcatcctcc aggtgcgaga gctccgatga
     1021 cccagcctcc agcttcagga gcaccgatgg cacagccggc ggccccacct gcacagccga
     1081 tggccccacc tgcacagccg atggcttctt gggccccgca ggctcagcct ctgatcctgc
     1141 aaatccagtc tcaagttata agggctcctc cgcaggttcc ccagggcccg caggcacccc
     1201 cagcgcagct agccacaccc ccgggctggc aggcgacctc gccaggatgg caggccacgc
     1261 agcaaggctg gcaggccact cccctgactt ggcagaccac gcaggtcacc tggcaggcac
     1321 cagccgttac ctggcaggtg ccgccgccca tgcgccaggg gcccccgccc atccgccctg
     1381 gcccaccacc catccgccct ggcccaccac cggtgcgaca ggccccaccg ctgatccgcc
     1441 aggccccacc ggtgatccgc caggccccac ccgtgatccg ccaggcccca cccgtgatcc
     1501 gccaggcccc cgctgtgatc cgccaggccc cacctgtgat ccgccaggcc ccacctgtga
     1561 tccgccaggc tccacctgtg atccgccagg ccccgccgct gatccgccag gcgccgccgc
     1621 ccatccgacc tgccccacag gtcctggcca cccagccacc gctctggcag gccctgccac
     1681 ccccacctcc actgcggcag gccccgcagg ctaggctgcc ggccccgcag gtgcaggcgg
     1741 cgccgcaggt gcctacggcc ccacctgcta cgcaggtacc cgcggcgccg cccgctggcc
     1801 cgcaggtgcc ccagcctgtg ctgccggccc cgctgtctgc cccactgtct gccccgcagg
     1861 ctgtgcactg cccttccatc atctggcagg cccccaaagg tcagcccccg gtgccacacg
     1921 agattccaac gtcaatggaa ttccaggagg tgcagcagac acaggcgctg gcctggcagg
     1981 cccagaaggc ccccactcac atctggcagc ccctgcctgc ccaggaggcc cagaggcagg
     2041 ctcccccctt ggtccagctg gagcagccct ttcagggagc cccgccctcc caaaaagccg
     2101 tgcaaatcca gctacccccc cagcaggccc aggcatcggg tccgcaagcg gaggtgccca
     2161 cactgccgct ccagccttcc tggcaggcac cgcctgcagt cttgcaggcc cagcccggac
     2221 ccccggtagc agcggcaaat tttcccctgg gctccgctaa atcattgatg actccatcag
     2281 gagaatgcag ggcctcttct atagaccgca ggggctcctc taaagagcgc aggacctcct
     2341 cgaaggagcg cagggcccct tcaaaagacc gcatgatctt tgctgccacc ttctgtgctc
     2401 ccaaggcagt gtcagctgcg cgagcacacc tgccagctgc ctggaaaaac ctgcctgcca
     2461 caccggagac ctttgctccc tcctcaagtg tcttcccagc tacctcccag tttcagcctg
     2521 cctctctgaa tgcctttaaa ggcccctctg ctgcctcaga gaccccaaag tcactgccat
     2581 atgctctgca ggatcccttt gcctgtgtag aggccctgcc tgcagttcca tgggtcccac
     2641 agcccaatat gaatgcctca aaggcatcgc aggcagtgcc caccttcctg atggctacag
     2701 cagctgcccc ccaggcaact gccaccactc aagaggcctc caagacctcc gtcgagccgc
     2761 cacgccgctc cggcaaggcc acccggaaga agaagcatct ggaagcccaa gaggacagcc
     2821 gtggccacac gctagccttt catgactggc agggcccaag gccctgggag aatctaaatc
     2881 tgagtgactg ggaggtccaa agccctatcc aggtctcggg tgactgggag cacccaaaca
     2941 ccccccgtgg cctgagtggt tgggagggcc ctagcacctc caggatcctg agtggctggg
     3001 aagggcccag cgcatcctgg gccctgagtg cctgggaggg cccgagcacc tccagggccc
     3061 tgggtctctc tgaaagccca gggagctctc tgcccgtagt tgtgtctgag gtcgcaagtg
     3121 tctctccggg atccagtgcc acccaggata attccaaggt ggaggcacag cccttgtctc
     3181 ccttggatga gagggcaaat gcgttggtgc agttcctctt agtcaaggac caagccaagg
     3241 tgcctgtcca gcgctcggag atggtgaaag tcatcctccg agagtataaa gatgagtgct
     3301 tagatatcat caaccgtgcc aacaataagc tggagtgtgc ctttggttat caattgaaag
     3361 aaattgatac caaaaaccac gcctatatta tcatcaacaa gctgggctac catacaggga
     3421 atttggtggc atcctattta gacaggccca agtttggcct tctgatggtg gtcttgagcc
     3481 tcatctttat gaaaggcaac tgtgtcaggg aggatctgat ctttaatttt ctgttcaagt
     3541 tagggttgga tgtccgggag acaaacggtc tctttggaaa tactaagaag ctcatcaccg
     3601 aagtgtttgt caggcagaag tacctagagt acaggcgaat cccttacact gagcccgcag
     3661 agtatgagtt cctctggggc cctcgagcat tcctggaaac cagcaagatg cttgtcctga
     3721 ggtttttggc caagctccat aagaaagatc cacagagctg gccattccat taccttgaag
     3781 cgctcgcaga gtgtgagtgg gaagacacag atgaggatga acctgacacc ggtgacagtg
     3841 cccacggccc caccagcagg ccccctcccc gctaataggt gtagcagaga tctcgctcct
     3901 gtgtttccct ggccagaggc cactgacagg gtggggggac atttttgttc ctggtgtttg
     3961 tgttccagtt ccacgagtgt acgtttggat tttcaacttg gtttcgtatc tgccaaagct
     4021 ttgtacattt tttatgtggt gttgatttca atcggctact gttctgttct gtattttggc
     4081 atctgtgttt ttaagtgaga tctgtggttc tctgttttgt gttttaattg ttatgttttg
     4141 gtatcagctt tgtgctggct ttgtgaaatg aattgagaag ctatccatct catttctggt
     4201 atagttcatg tagcattgta atcggttgtt ctttgaacgt tcaaatgact catcagtaaa
     4261 aactgtctac agagaagtaa atatctatat ctatatatat aaatatactt tcagcataa
//
