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

Gene ID: 4613, updated on 26-May-2016
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
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 lateral stalk subunit 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 gene expression IDA
Inferred from Direct Assay
more info
PubMed 
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 auditory receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
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 details...

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)