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

    Gene ID: 4613, updated on 26-Jul-2015
    Official Symbol
    MYCNprovided by HGNC
    Official Full Name
    v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homologprovided by HGNC
    Primary source
    HGNC: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. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
    Orthologs
    See MYCN in Epigenomics, MapViewer
    Location:
    2p24.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (15940438..15947007)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (16080683..16087129)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein, large, P1 pseudogene 5 Neighboring gene MYCN upstream transcript (non-protein coding) Neighboring gene MYCN opposite strand Neighboring gene gastric cancer associated transcript 3 (non-protein coding) Neighboring gene uncharacterized LOC105373443

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2011-11-07)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2011-11-07)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies susceptibility loci for Wilms tumor.
    NHGRI GWA Catalog
    Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis.
    NHGRI GWA Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    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 
    protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    branching morphogenesis of an epithelial tube IEA
    Inferred from Electronic Annotation
    more info
     
    cartilage condensation IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    lung development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell death IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    chromatin TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    N-myc proto-oncogene protein
    Names
    class E basic helix-loop-helix protein 37
    neuroblastoma MYC oncogene
    neuroblastoma-derived v-myc avian myelocytomatosis viral related oncogene
    oncogene NMYC
    pp65/67

    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
      4878..11447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001293228.1NP_001280157.1  N-myc proto-oncogene protein isoform 1

      See identical proteins and their annotated locations for NP_001280157.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the full-length transcript. Its exon 1 includes segments 1a and 1b (also known as exon 1a and exon 1b, PMID: 20017904). This variant encodes isoform 1.
      Source sequence(s)
      AC010145, AI962624, BC002712
      Consensus CDS
      CCDS1687.1
      UniProtKB/Swiss-Prot
      P04198
      Conserved Domains (2) summary
      cd00083
      Location:379438
      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:9372
      Myc_N; Myc amino-terminal region
    2. NM_001293231.1NP_001280160.1  N-myc proto-oncogene protein isoform 2

      See identical proteins and their annotated locations for NP_001280160.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks segment 1b and exon 2, which results in an upstream AUG start codon, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC010145, AI962624, BC002712
      UniProtKB/Swiss-Prot
      P04198
      Conserved Domains (2) summary
      cd00083
      Location:168227
      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:42161
      Myc_N; Myc amino-terminal region
    3. NM_001293233.1NP_001280162.1  N-myc proto-oncogene protein isoform 3

      See identical proteins and their annotated locations for NP_001280162.1

      Status: REVIEWED

      Description
      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 (3, also known as MYCNOT, see PMID: 20017904) represented by this Refseq is translated from the upstream open reading frame. The isoform 3 has an identical N-terminus to that of the isoform 2, and the function of the isoform 3 is currently unknown.
      Source sequence(s)
      AC010145, AI962624, BC002712
      UniProtKB/Swiss-Prot
      P04198
      UniProtKB/TrEMBL
      Q9H224
    4. NM_005378.5NP_005369.2  N-myc proto-oncogene protein isoform 1

      See identical proteins and their annotated locations for NP_005369.2

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AC010145, AI962624, BC002712
      Consensus CDS
      CCDS1687.1
      UniProtKB/Swiss-Prot
      P04198
      Related
      ENSP00000281043, OTTHUMP00000037565, ENST00000281043, OTTHUMT00000095469
      Conserved Domains (2) summary
      cd00083
      Location:379438
      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:9372
      Myc_N; Myc amino-terminal region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

      Range
      15940438..15947007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      16010346..16016915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)