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    MYCN v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) [ Homo sapiens ]

    Gene ID: 4613, updated on 5-Feb-2012
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    Summary

    Official Symbol
    MYCNprovided by HGNC
    Official Full Name
    v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)provided by HGNC
    Primary source
    HGNC:7559
    See related
    Ensembl:ENSG00000134323; HPRD:01278; MIM:164840; Vega:OTTHUMG00000039579
    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
    NMYC; ODED; MODED; N-myc; bHLHe37
    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. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    2p24.3
    Sequence :
    Chromosome: 2; NC_000002.11 (16080683..16087129)
    See MYCN in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 Neighboring gene ribosomal protein, large, P1 pseudogene 5 Neighboring gene MYCN opposite strand/antisense RNA (non-protein coding) Neighboring gene family with sequence similarity 49, member A Neighboring gene zinc finger, FYVE domain containing 9 pseudogene 2

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Segmental chromosomal alterations lead to a higher risk of relapse in infants with MYCN-non-amplified localised unresectable/disseminated neuroblastoma (a SIOPEN collaborative study). Schleiermacher G, et al. Br J Cancer, 2011 Dec 6. PMID 22146831.
    2. Expression of NLRR3 orphan receptor gene is negatively regulated by MYCN and Miz-1, and its downregulation is associated with unfavorable outcome in neuroblastoma. Akter J, et al. Clin Cancer Res, 2011 Nov 1. PMID 21908575.
    3. MYCN amplicon junctions as tumor-specific targets for minimal residual disease detection in neuroblastoma. Kryh H, et al. Int J Oncol, 2011 Nov. PMID 21750863.
    4. Co-localization of the oncogenic transcription factor MYCN and the DNA methyl binding protein MeCP2 at genomic sites in neuroblastoma. Murphy DM, et al. PLoS One, 2011. PMID 21731748.
    5. Sequential activation of Snail1 and N-Myc modulates sonic hedgehog-induced transformation of neural cells. Wanshura LE, et al. Cancer Res, 2011 Aug 1. PMID 21646478.

    See all (178) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. NLRR3 is a direct target of MYCN, which associates with Miz-1 and negatively regulates NLRR3 expression. NLRR3 may play a role in NBL differentiation and the survival of NBL patients by inversely correlating with MYCN amplification.
      Title: Expression of NLRR3 orphan receptor gene is negatively regulated by MYCN and Miz-1, and its downregulation is associated with unfavorable outcome in neuroblastoma.
    2. In infants with stage 4s MYCN-non-amplified NB, a SCA genomic profile identifies patients who will require upfront treatment even in the absence of other clinical indication for therapy
      Title: Segmental chromosomal alterations lead to a higher risk of relapse in infants with MYCN-non-amplified localised unresectable/disseminated neuroblastoma (a SIOPEN collaborative study).
    3. The MYCN amplicon junction is a patient/tumor-specific target that can be used for minimal residual disease detection in neuroblastoma.
      Title: MYCN amplicon junctions as tumor-specific targets for minimal residual disease detection in neuroblastoma.
    4. found a point mutation affecting codon 34 (GGA --> GTA) of beta-Catenin gene resulting in a Glycine --> Valine substitution. No cases presented c-myc/N-myc amplification
      Title: TP53, β-Catenin and c-myc/N-myc status in embryonal tumours with ependymoblastic rosettes.
    5. MYCN and MeCP2 protein interact and co-localize to similar genomic sites at very high frequency.
      Title: Co-localization of the oncogenic transcription factor MYCN and the DNA methyl binding protein MeCP2 at genomic sites in neuroblastoma.
    6. MYCN amplification did not automatically equate to a poor prognosis in this group of patients with neuroblastoma
      Title: Neuroblastomas with discordant genotype-phenotype relationships: report of four cases with MYCN amplification and favorable histology.
    7. Sna1 directly induced transcription of N-Myc in human medulloblastoma cells. Depletion of N-Myc ablated the Sna1-induced proliferation and transformation.
      Title: Sequential activation of Snail1 and N-Myc modulates sonic hedgehog-induced transformation of neural cells.
    8. MYCN is a major driver of neuroblastoma tumorigenesis and MYCN amplification is the worst prognostic indicator of aggressive NB.
      Title: A genome-wide search for promoters that respond to increased MYCN reveals both new oncogenic and tumor suppressor microRNAs associated with aggressive neuroblastoma.
    9. data demonstrate that MYCN-regulated miRNAs are able to modulate the expression of the tumor suppressor DKK3 in neuroblastoma
      Title: MYCN-regulated miRNA-92 inhibits secretion of the tumor suppressor DICKKOPF-3 (DKK3) in neuroblastoma.
    10. results associate deregulation of MYCN and downstream targets, including Let-7 and oncofetal genes, with serous ovarian cancer
      Title: Deregulation of MYCN, LIN28B and LET7 in a molecular subtype of aggressive high-grade serous ovarian cancers.
    Submit: New GeneRIF Correction See all (144)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Feingold syndrome

    Summary from GeneReviews Go to GeneReview

    Disease Characteristics
    Feingold syndrome is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the little finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild to moderate learning disability.
    Diagnosis Testing
    Diagnosis is based on clinical findings. Molecular genetic testing of MYCN, the only gene known to be associated with Feingold syndrome, is available on a clinical basis.
    Genetic Counseling
    Feingold syndrome is inherited in an autosomal dominant manner. Approximately 60% of individuals with Feingold syndrome have an affected parent; the proportion of cases caused by de novo mutations is unknown. Each child of an individual with Feingold syndrome has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation in the family has been identified.
    References

    Microcephaly and digital abnormalities with normal intelligence

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_005369.2 NC_000011.8 SLC1A2    BIND  PubMed N-Myc interacts with the EAAT2 promoter. 
    P04198 P68400 CSNK2A1    HPRD  PubMed  
    P04198 P19784 CSNK2A2    HPRD  PubMed  
    P04198 P61244 MAX    HPRD  PubMed  
    P04198 Q05195 MXD1    HPRD  PubMed  
    P04198 Q13287 NMI    HPRD  PubMed  
    P04198 Q8IY57 YAF2    HPRD  PubMed  
    BioGRID:110698 BioGRID:112666 AURKA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110698 BioGRID:107841 CSNK2A1    BioGRID  PubMed Biochemical Activity 
    BioGRID:110698 BioGRID:120581 FBXW7    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110698 BioGRID:109316 HDAC2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110698 BioGRID:110319 MAX    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:110698 BioGRID:110870 NGFR    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:110698 BioGRID:110969 NTRK1    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:110698 BioGRID:114523 PIAS2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110698 BioGRID:112550 SP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110698 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    chromatin TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    N-myc proto-oncogene protein
    Names
    N-myc proto-oncogene protein
    pp65/67
    oncogene NMYC
    neuroblastoma MYC oncogene
    class E basic helix-loop-helix protein 37
    neuroblastoma-derived v-myc avian myelocytomatosis viral related oncogene
    v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
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    NCBI Reference Sequences (RefSeq)

    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

    1. NG_007457.1 RefSeqGene

      Range
      5001..11447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005378.4 → NP_005369.2  N-myc proto-oncogene protein

      Status: REVIEWED

      Source sequence(s)
      AC010145, AI962624, BT007384, BU167361
      Consensus CDS
      CCDS1687.1
      UniProtKB/Swiss-Prot
      P04198
      UniProtKB/TrEMBL
      Q53XS5
      Related
      ENSP00000281043, OTTHUMP00000037565, ENST00000281043, OTTHUMT00000095469
      Conserved Domains (2) summary
      cd00083
      Location:386 – 432
      Blast Score: 147
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
      pfam01056
      Location:11 – 201
      Blast Score: 469
      Myc_N; Myc amino-terminal region

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      16080683..16087129
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      15934021..15938396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC010145.10 AAY14952.1
    genomic AJ242956.1 CAB44703.1
    genomic CH471053.2 EAX00885.1
      EAX00886.1
      EAX00887.1
      EAX00888.1
    genomic HC084228.1 CBI12210.1
    genomic M13228.1 AAA36370.1
    genomic M13241.1 AAA36371.1
    genomic M18090.1 AAA59885.1
    genomic X02363.1 CAB37871.1
    genomic X03294.1 CAA27037.1
    genomic X03295.1 CAA27038.1
    genomic Y00664.1 CAA68677.1
      CAA68678.1
    mRNA AF320053.1 AAG40001.1
    mRNA AI962624.1 None
    mRNA AK298225.1 BAG60495.1
    mRNA AK299495.1 BAG61453.1
    mRNA BC002712.2 AAH02712.1
    mRNA BT007384.1 AAP36048.1
    mRNA BU167361.1 None
    mRNA M55330.1 None
    Protein Accession Links
    GenePept Link UniProtKB Link
    P04198.2 GenPept UniProtKB/Swiss-Prot:P04198
    Q53XS5 GenPept UniProtKB/TrEMBL:Q53XS5
    Q7Z7Q9 GenPept UniProtKB/TrEMBL:Q7Z7Q9
    Q9H224 GenPept UniProtKB/TrEMBL:Q9H224
    Q9UMQ5 GenPept UniProtKB/TrEMBL:Q9UMQ5
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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