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

Gene ID: 4613, updated on 15-Sep-2014
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]
See MYCN in Epigenomics, MapViewer
Location:
2p24.3
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (15940561..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 RNA, U5E small nuclear 7, pseudogene Neighboring gene ribosomal protein, large, P1 pseudogene 5 Neighboring gene MYCN opposite strand Neighboring gene uncharacterized LOC101928129 Neighboring gene family with sequence similarity 49, member A

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Feingold syndrome
MedGen: C0796068 OMIM: 164280 GeneReviews: Feingold Syndrome 1
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study identifies susceptibility loci for Wilms tumor.
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
 
sequence-specific DNA binding transcription factor activity 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
 
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 
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

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 

    Range
    5001..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 proteins identical to NP_001280157.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) includes exons 1a and 1b in the 5' UTR. It represents the full-length transcript and encodes isoform 1.
    Source sequence(s)
    AC010145, AI962624, BC002712
    Consensus CDS
    CCDS1687.1
    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 proteins identical to NP_001280160.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks exon 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
    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 proteins identical to NP_001280162.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks exon 1b, 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
  4. NM_005378.5NP_005369.2  N-myc proto-oncogene protein isoform 1

    See proteins identical to NP_005369.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks exon 1b, 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    15940561..15947007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711886.1XP_006711949.1  

    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

Alternate HuRef

Genomic

  1. AC_000134.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    16010469..16016915
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)