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Genetics Home Reference: your guide to understanding genetic conditions
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MYCN

Reviewed March 2011

What is the official name of the MYCN gene?

The official name of this gene is “v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian).”

MYCN is the gene's official symbol. The MYCN gene is also known by other names, listed below.

What is the normal function of the MYCN gene?

The MYCN gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervous system, digestive system, and lungs. The MYCN protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, this protein is called a transcription factor.

The MYCN gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous. The MYCN gene is a member of the Myc family of oncogenes. These genes play important roles in regulating cell growth and division (proliferation) and the self-destruction of cells (apoptosis).

Does the MYCN gene share characteristics with other genes?

The MYCN gene belongs to a family of genes called bHLH (basic helix-loop-helix).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the MYCN gene related to health conditions?

Feingold syndrome - caused by mutations in the MYCN gene

At least 29 mutations involving the MYCN gene have been found to cause Feingold syndrome. Most mutations lead to a premature stop signal in the instructions for making the protein. In some cases of Feingold syndrome, the entire MYCN gene is deleted. These genetic changes prevent one copy of the gene in each cell from producing any functional MYCN protein. As a result, only half the normal amount of this protein is available to control the activity of specific genes during embryonic development. It remains unclear how a reduced amount of the MYCN protein causes the varied features of Feingold syndrome.

neuroblastoma - associated with the MYCN gene

Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are not inherited, are called somatic mutations. Somatic mutations sometimes occur when DNA makes a copy of itself (replicates) in preparation for cell division. Errors in the replication process can result in one or more extra copies of a gene within a cell. The presence of extra copies of certain genes, known as gene amplification, can underlie the formation and growth of tumor cells. For example, amplification of the MYCN gene is found in about 25 percent of neuroblastomas. Neuroblastoma is a type of cancerous tumor that arises in developing nerve cells. The number of copies of the MYCN gene varies widely among these tumors but is typically between 50 and 100. Amplification of the MYCN gene is associated with a more severe form of neuroblastoma. It is unknown how amplification of this gene contributes to the aggressive nature of neuroblastoma.

Where is the MYCN gene located?

Cytogenetic Location: 2p24.3

Molecular Location on chromosome 2: base pairs 16,080,682 to 16,087,128

The MYCN gene is located on the short (p) arm of chromosome 2 at position 24.3.

The MYCN gene is located on the short (p) arm of chromosome 2 at position 24.3.

More precisely, the MYCN gene is located from base pair 16,080,682 to base pair 16,087,128 on chromosome 2.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about MYCN?

You and your healthcare professional may find the following resources about MYCN helpful.

  • Educational resources - Information pages

    • Cancer Medicine (sixth edition, 2003): Gene Amplification (http://www.ncbi.nlm.nih.gov/books/NBK12538/)
    • Human Molecular Genetics (second edition, 1999): Activation of some oncogenes can occur by amplification (http://www.ncbi.nlm.nih.gov/books/NBK7570/)
    • National Cancer Institute: Neuroblastoma (http://www.cancer.gov/cancertopics/types/neuroblastoma/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=feingold)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for MYCN (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4613%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(MYCN%5BTI%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/164840)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_MYCN.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/4613)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=4613)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=7559)

What other names do people use for the MYCN gene or gene products?

  • bHLHe37
  • MYCN_HUMAN
  • neuroblastoma-derived v-myc avian myelocytomatosis viral related oncogene
  • neuroblastoma MYC oncogene
  • NMYC
  • N-myc
  • N-myc proto-oncogene protein
  • oncogene NMYC
  • pp65/67
  • v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
  • v-myc myelocytomatosis viral related oncogene, neuroblastoma derived

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding MYCN?

apoptosis ; cell ; cell division ; class ; digestive ; digestive system ; DNA ; embryonic ; gene ; gene amplification ; nervous system ; oncogene ; proliferation ; protein ; proto-oncogene ; syndrome ; transcription ; transcription factor ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Albertson DG. Gene amplification in cancer. Trends Genet. 2006 Aug;22(8):447-55. Epub 2006 Jun 19. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16787682?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/4613)
  • Gene Review: Feingold Syndrome 1 (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=feingold)
  • Jacobs JF, van Bokhoven H, van Leeuwen FN, Hulsbergen-van de Kaa CA, de Vries IJ, Adema GJ, Hoogerbrugge PM, de Brouwer AP. Regulation of MYCN expression in human neuroblastoma cells. BMC Cancer. 2009 Jul 18;9:239. doi: 10.1186/1471-2407-9-239. (http://www.ncbi.nlm.nih.gov/pubmed/19615087?dopt=Abstract)
  • Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat. 2008 Sep;29(9):1125-32. doi: 10.1002/humu.20750. (http://www.ncbi.nlm.nih.gov/pubmed/18470948?dopt=Abstract)
  • OMIM: V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED (http://omim.org/entry/164840)
  • Schwab M, Alitalo K, Klempnauer KH, Varmus HE, Bishop JM, Gilbert F, Brodeur G, Goldstein M, Trent J. Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour. Nature. 1983 Sep 15-21;305(5931):245-8. (http://www.ncbi.nlm.nih.gov/pubmed/6888561?dopt=Abstract)
  • Tang XX, Zhao H, Kung B, Kim DY, Hicks SL, Cohn SL, Cheung NK, Seeger RC, Evans AE, Ikegaki N. The MYCN enigma: significance of MYCN expression in neuroblastoma. Cancer Res. 2006 Mar 1;66(5):2826-33. (http://www.ncbi.nlm.nih.gov/pubmed/16510605?dopt=Abstract)
  • van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet. 2005 May;37(5):465-7. Epub 2005 Apr 10. (http://www.ncbi.nlm.nih.gov/pubmed/15821734?dopt=Abstract)
  • Van Roy N, De Preter K, Hoebeeck J, Van Maerken T, Pattyn F, Mestdagh P, Vermeulen J, Vandesompele J, Speleman F. The emerging molecular pathogenesis of neuroblastoma: implications for improved risk assessment and targeted therapy. Genome Med. 2009 Jul 27;1(7):74. doi: 10.1186/gm74. (http://www.ncbi.nlm.nih.gov/pubmed/19638189?dopt=Abstract)
  • Vasudevan SA, Nuchtern JG, Shohet JM. Gene profiling of high risk neuroblastoma. World J Surg. 2005 Mar;29(3):317-24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15706435?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2011
Published: May 13, 2013