LOCUS       NM_005378               2613 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens MYCN proto-oncogene, bHLH transcription factor (MYCN),
            transcript variant 2, mRNA.
ACCESSION   NM_005378
VERSION     NM_005378.6
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 2613)
  AUTHORS   Vempuluru,V.S., Maniar,A., Bakal,K. and Kaliki,S.
  TITLE     Role of MYCN in retinoblastoma: A review of current literature
  JOURNAL   Surv Ophthalmol 69 (5), 697-706 (2024)
   PUBMED   38796108
  REMARK    GeneRIF: Role of MYCN in retinoblastoma: A review of current
            literature.
            Review article
REFERENCE   2  (bases 1 to 2613)
  AUTHORS   Sundaramoorthy,S., Colombo,D.F., Sanalkumar,R., Broye,L., Balmas
            Bourloud,K., Boulay,G., Cironi,L., Stamenkovic,I., Renella,R.,
            Kuttler,F., Turcatti,G., Rivera,M.N., Muhlethaler-Mottet,A.,
            Bardet,A.F. and Riggi,N.
  TITLE     Preclinical spheroid models identify BMX as a therapeutic target
            for metastatic MYCN nonamplified neuroblastoma
  JOURNAL   JCI Insight 9 (14), e169647 (2024)
   PUBMED   39133652
  REMARK    GeneRIF: Preclinical spheroid models identify BMX as a therapeutic
            target for metastatic MYCN nonamplified neuroblastoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2613)
  AUTHORS   Murray,J.E., Valli,E., Milazzo,G., Mayoh,C., Gifford,A.J.,
            Fletcher,J.I., Xue,C., Jayatilleke,N., Salehzadeh,F., Gamble,L.D.,
            Rouaen,J.R.C., Carter,D.R., Forgham,H., Sekyere,E.O., Keating,J.,
            Eden,G., Allan,S., Alfred,S., Kusuma,F.K., Clark,A., Webber,H.,
            Russell,A.J., de Weck,A., Kile,B.T., Santulli,M., De Rosa,P.,
            Fleuren,E.D.G., Gao,W., Wilkinson-White,L., Low,J.K.K.,
            Mackay,J.P., Marshall,G.M., Hilton,D.J., Giorgi,F.M., Koster,J.,
            Perini,G., Haber,M. and Norris,M.D.
  TITLE     The transcriptional co-repressor Runx1t1 is essential for
            MYCN-driven neuroblastoma tumorigenesis
  JOURNAL   Nat Commun 15 (1), 5585 (2024)
   PUBMED   38992040
  REMARK    GeneRIF: The transcriptional co-repressor Runx1t1 is essential for
            MYCN-driven neuroblastoma tumorigenesis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2613)
  AUTHORS   Besancon,R., Valsesia-Wittmann,S., Locher,C., Delloye-Bourgeois,C.,
            Furhman,L., Tutrone,G., Bertrand,C., Jallas,A.C., Garin,E. and
            Puisieux,A.
  TITLE     Upstream ORF affects MYCN translation depending on exon 1b
            alternative splicing
  JOURNAL   BMC Cancer 9, 445 (2009)
   PUBMED   20017904
  REMARK    GeneRIF: Existence of upstream ORF in MYCN transcripts leads to a
            new level of MYCN regulation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2613)
  AUTHORS   Marcelis,C.L.M. and de Brouwer,A.P.M.
  TITLE     Feingold Syndrome 1
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301770
REFERENCE   6  (bases 1 to 2613)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301753
REFERENCE   7  (bases 1 to 2613)
  AUTHORS   Hagiwara,T., Nakaya,K., Nakamura,Y., Nakajima,H., Nishimura,S. and
            Taya,Y.
  TITLE     Specific phosphorylation of the acidic central region of the N-myc
            protein by casein kinase II
  JOURNAL   Eur J Biochem 209 (3), 945-950 (1992)
   PUBMED   1425701
REFERENCE   8  (bases 1 to 2613)
  AUTHORS   Armstrong,B.C. and Krystal,G.W.
  TITLE     Isolation and characterization of complementary DNA for N-cym, a
            gene encoded by the DNA strand opposite to N-myc
  JOURNAL   Cell Growth Differ 3 (6), 385-390 (1992)
   PUBMED   1419902
REFERENCE   9  (bases 1 to 2613)
  AUTHORS   Fougerousse,F., Meloni,R., Roudaut,C. and Beckmann,J.S.
  TITLE     Dinucleotide repeat polymorphism at the human hemoglobin alpha-1
            pseudo-gene (HBAP1)
  JOURNAL   Nucleic Acids Res 20 (5), 1165 (1992)
   PUBMED   1549498
REFERENCE   10 (bases 1 to 2613)
  AUTHORS   Stanton,L.W. and Bishop,J.M.
  TITLE     Alternative processing of RNA transcribed from NMYC
  JOURNAL   Mol Cell Biol 7 (12), 4266-4272 (1987)
   PUBMED   3437890
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010145.10 and BC002712.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005378.5.
            
            Summary: This gene is a member of the MYC family and encodes a
            protein with a basic helix-loop-helix (bHLH) domain. This protein
            is located in the nucleus and must dimerize with another bHLH
            protein in order to bind DNA. Amplification of this gene is
            associated with a variety of tumors, most notably neuroblastomas.
            Multiple alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jun 2014].
            
            Transcript Variant: This variant (2) lacks segment 1b in the 5'
            region, compared to variant 1. This variant includes two open
            reading frames; the isoform 1 represented by this RefSeq is
            translated from the downstream open reading frame. This transcript
            and variant 1 encode the same isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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.
            
            ##Evidence-Data-START##
            CDS exon combination :: BC002712.2, BT007384.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1965299, SAMEA1970526 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000281043.4/ ENSP00000281043.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-194               AC010145.10        65895-66088
            195-2613            BC002712.2         25-2443
FEATURES             Location/Qualifiers
     source          1..2613
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.3"
     gene            1..2613
                     /gene="MYCN"
                     /gene_synonym="bHLHe37; FGLDS1; MODED; MPAPA; MYCNsORF;
                     MYCNsPEP; N-myc; NMYC; ODED"
                     /note="MYCN proto-oncogene, bHLH transcription factor"
                     /db_xref="GeneID:4613"
                     /db_xref="HGNC:HGNC:7559"
                     /db_xref="MIM:164840"
     exon            1..194
                     /gene="MYCN"
                     /gene_synonym="bHLHe37; FGLDS1; MODED; MPAPA; MYCNsORF;
                     MYCNsPEP; N-myc; NMYC; ODED"
                     /inference="alignment:Splign:2.1.0"
     exon            195..1101
                     /gene="MYCN"
                     /gene_synonym="bHLHe37; FGLDS1; MODED; MPAPA; MYCNsORF;
                     MYCNsPEP; N-myc; NMYC; ODED"
                     /inference="alignment:Splign:2.1.0"
     CDS             312..1706
                     /gene="MYCN"
                     /gene_synonym="bHLHe37; FGLDS1; MODED; MPAPA; MYCNsORF;
                     MYCNsPEP; N-myc; NMYC; ODED"
                     /note="isoform 1 is encoded by transcript variant 2;
                     neuroblastoma MYC oncogene; N-myc proto-oncogene protein;
                     oncogene NMYC; neuroblastoma-derived v-myc avian
                     myelocytomatosis viral related oncogene; class E basic
                     helix-loop-helix protein 37; v-myc avian myelocytomatosis
                     viral oncogene neuroblastoma derived homolog"
                     /codon_start=1
                     /product="N-myc proto-oncogene protein isoform 1"
                     /protein_id="NP_005369.2"
                     /db_xref="CCDS:CCDS1687.1"
                     /db_xref="GeneID:4613"
                     /db_xref="HGNC:HGNC:7559"
                     /db_xref="MIM:164840"
                     /translation="MPSCSTSTMPGMICKNPDLEFDSLQPCFYPDEDDFYFGGPDSTP
                     PGEDIWKKFELLPTPPLSPSRGFAEHSSEPPSWVTEMLLENELWGSPAEEDAFGLGGL
                     GGLTPNPVILQDCMWSGFSAREKLERAVSEKLQHGRGPPTAGSTAQSPGAGAASPAGR
                     GHGGAAGAGRAGAALPAELAHPAAECVDPAVVFPFPVNKREPAPVPAAPASAPAAGPA
                     VASGAGIAAPAGAPGVAPPRPGGRQTSGGDHKALSTSGEDTLSDSDDEDDEEEDEEEE
                     IDVVTVEKRRSSSNTKAVTTFTITVRPKNAALGPGRAQSSELILKRCLPIHQQHNYAA
                     PSPYVESEDAPPQKKIKSEASPRPLKSVIPPKAKSLSPRNSDSEDSERRRNHNILERQ
                     RRNDLRSSFLTLRDHVPELVKNEKAAKVVILKKATEYVHSLQAEEHQLLLEKEKLQAR
                     QQQLLKKIEHARTC"
     exon            1102..2613
                     /gene="MYCN"
                     /gene_synonym="bHLHe37; FGLDS1; MODED; MPAPA; MYCNsORF;
                     MYCNsPEP; N-myc; NMYC; ODED"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2593..2598
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYCN"
                     /gene_synonym="bHLHe37; FGLDS1; MODED; MPAPA; MYCNsORF;
                     MYCNsPEP; N-myc; NMYC; ODED"
                     /note="hexamer: AATAAA"
     polyA_site      2613
                     /gene="MYCN"
                     /gene_synonym="bHLHe37; FGLDS1; MODED; MPAPA; MYCNsORF;
                     MYCNsPEP; N-myc; NMYC; ODED"
                     /note="major polyA site"
ORIGIN      
        1 aggctgtgac agtcatctgt ctggacgcgc tgggtggatg cggggggctc ctgggaactg
       61 tgttggagcc gagcaagcgc tagccaggcg caagcgcgca cagactgtag ccatccgagg
      121 acacccccgc ccccccggcc cacccggaga cacccgcgca gaatcgcctc cggatcccct
      181 gcagtcggcg ggagtgttgg aggtcggcgc cggcccccgc cttccgcgcc ccccacggga
      241 aggaagcacc cccggtatta aaacgaacgg ggcggaaaga agccctcagt cgccggccgg
      301 gaggcgagcc gatgccgagc tgctccacgt ccaccatgcc gggcatgatc tgcaagaacc
      361 cagacctcga gtttgactcg ctacagccct gcttctaccc ggacgaagat gacttctact
      421 tcggcggccc cgactcgacc cccccggggg aggacatctg gaagaagttt gagctgctgc
      481 ccacgccccc gctgtcgccc agccgtggct tcgcggagca cagctccgag cccccgagct
      541 gggtcacgga gatgctgctt gagaacgagc tgtggggcag cccggccgag gaggacgcgt
      601 tcggcctggg gggactgggt ggcctcaccc ccaacccggt catcctccag gactgcatgt
      661 ggagcggctt ctccgcccgc gagaagctgg agcgcgccgt gagcgagaag ctgcagcacg
      721 gccgcgggcc gccaaccgcc ggttccaccg cccagtcccc gggagccggc gccgccagcc
      781 ctgcgggtcg cgggcacggc ggggctgcgg gagccggccg cgccggggcc gccctgcccg
      841 ccgagctcgc ccacccggcc gccgagtgcg tggatcccgc cgtggtcttc ccctttcccg
      901 tgaacaagcg cgagccagcg cccgtgcccg cagccccggc cagtgccccg gcggcgggcc
      961 ctgcggtcgc ctcgggggcg ggtattgccg ccccagccgg ggccccgggg gtcgcccctc
     1021 cgcgcccagg cggccgccag accagcggcg gcgaccacaa ggccctcagt acctccggag
     1081 aggacaccct gagcgattca gatgatgaag atgatgaaga ggaagatgaa gaggaagaaa
     1141 tcgacgtggt cactgtggag aagcggcgtt cctcctccaa caccaaggct gtcaccacat
     1201 tcaccatcac tgtgcgtccc aagaacgcag ccctgggtcc cgggagggct cagtccagcg
     1261 agctgatcct caaacgatgc cttcccatcc accagcagca caactatgcc gccccctctc
     1321 cctacgtgga gagtgaggat gcacccccac agaagaagat aaagagcgag gcgtccccac
     1381 gtccgctcaa gagtgtcatc cccccaaagg ctaagagctt gagcccccga aactctgact
     1441 cggaggacag tgagcgtcgc agaaaccaca acatcctgga gcgccagcgc cgcaacgacc
     1501 ttcggtccag ctttctcacg ctcagggacc acgtgccgga gttggtaaag aatgagaagg
     1561 ccgccaaggt ggtcattttg aaaaaggcca ctgagtatgt ccactccctc caggccgagg
     1621 agcaccagct tttgctggaa aaggaaaaat tgcaggcaag acagcagcag ttgctaaaga
     1681 aaattgaaca cgctcggact tgctagacgc ttctcaaaac tggacagtca ctgccacttt
     1741 gcacattttg attttttttt taaacaaaca ttgtgttgac attaagaatg ttggtttact
     1801 ttcaaatcgg tcccctgtcg agttcggctc tgggtgggca gtaggaccac cagtgtgggg
     1861 ttctgctggg accttggaga gcctgcatcc caggatgctg ggtggccctg cagcctcctc
     1921 cacctcacct ccatgacagc gctaaacgtt ggtgacggtt gggagcctct ggggctgttg
     1981 aagtcacctt gtgtgttcca agtttccaaa caacagaaag tcattccttc tttttaaaat
     2041 ggtgcttaag ttccagcaga tgccacataa ggggtttgcc atttgatacc cctggggaac
     2101 atttctgtaa ataccattga cacatccgcc ttttgtatac atcctgggta atgagaggtg
     2161 gcttttgcgg ccagtattag actggaagtt catacctaag tactgtaata atacctcaat
     2221 gtttgaggag catgttttgt atacaaatat attgttaatc tctgttatgt actgtactaa
     2281 ttcttacact gcctgtatac tttagtatga cgctgataca taactaaatt tgatacttat
     2341 attttcgtat gaaaatgagt tgtgaaagtt ttgagtagat attactttat cactttttga
     2401 actaagaaac ttttgtaaag aaatttacta tatatatatg cctttttcct agcctgtttc
     2461 ttcctgttaa tgtatttgtt catgtttggt gcatagaact gggtaaatgc aaagttctgt
     2521 gtttaatttc ttcaaaatgt atatatttag tgctgcatct tatagcactt tgaaatacct
     2581 catgtttatg aaaataaata gcttaaaatt aaa
//
