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Genetics Home Reference: your guide to understanding genetic conditions
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ERBB2

Reviewed March 2011

What is the official name of the ERBB2 gene?

The official name of this gene is “v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2.”

ERBB2 is the gene's official symbol. The ERBB2 gene is also known by other names, listed below.

What is the normal function of the ERBB2 gene?

The ERBB2 gene is also commonly referred to as Her-2/neu, especially by doctors and other clinicians. This gene is one member of a family of genes that provide instructions for producing growth factor receptors. Growth factors are proteins that stimulate cell growth and division.

The ERBB2 gene provides instructions for making a protein called the ErbB2 growth factor receptor. This receptor is located on the surface of cells, where it associates with similar receptors to form a complex. Growth factors bind to these similar receptors (ErbB3, for example) and trigger the receptor complex to relay signals inside the cell. These signals activate certain genes that promote cell growth. ErbB2 probably also plays a role in connecting cells together (cell adhesion), the process by which cells mature to carry out specific functions (cell specialization), and cell movement.

Does the ERBB2 gene share characteristics with other genes?

The ERBB2 gene belongs to a family of genes called CD (CD molecules).

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 ERBB2 gene related to health conditions?

breast cancer - associated with the ERBB2 gene

Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. 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 multiple copies of a gene on a chromosome. The presence of multiple gene copies, known as gene amplification, can underlie the formation and growth of tumor cells depending on which gene is amplified. For example, amplification of the ERBB2 gene is found in about 25 percent of breast cancers. Extra copies of this gene cause too much of the ErbB2 receptor protein to be made in the cell (overexpression). Excess ErbB2 protein signals cells to grow and divide continuously, which can contribute to the growth of cancerous tumors. Overexpression of ErbB2 is associated with aggressive breast tumors that are more likely to spread to other tissues (metastasize).

other cancers - associated with the ERBB2 gene

Amplification of the ERBB2 gene has been reported in several other types of cancer, including ovarian, brain, stomach, and lung cancers. ERBB2 gene amplification results in overproduction of the ErbB2 protein, which likely stimulates cells to grow and divide continuously. This uncontrolled cell division can lead to the growth and progression of cancerous tumors.

Where is the ERBB2 gene located?

Cytogenetic Location: 17q12

Molecular Location on chromosome 17: base pairs 39,688,139 to 39,728,661

The ERBB2 gene is located on the long (q) arm of chromosome 17 at position 12.

The ERBB2 gene is located on the long (q) arm of chromosome 17 at position 12.

More precisely, the ERBB2 gene is located from base pair 39,688,139 to base pair 39,728,661 on chromosome 17.

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 ERBB2?

You and your healthcare professional may find the following resources about ERBB2 helpful.

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

What other names do people use for the ERBB2 gene or gene products?

  • C-erbB-2
  • ERBB2_HUMAN
  • HER2
  • Her-2/neu
  • MLN 19
  • NEU
  • NEU proto-oncogene
  • NGL
  • Oncogene NGL, neuroblastoma- or glioblastoma-derived
  • p185erbB2
  • TKR1
  • Tyrosine kinase-type cell surface receptor HER2
  • v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)

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 ERBB2?

cancer ; cell ; cell adhesion ; cell division ; chromosome ; DNA ; gene ; gene amplification ; glioblastoma ; growth factor ; inherited ; kinase ; leukemia ; metastasize ; oncogene ; ovarian ; progression ; protein ; proto-oncogene ; receptor ; stomach ; tumor ; tyrosine

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

References

  • Badache A, Hynes NE. A new therapeutic antibody masks ErbB2 to its partners. Cancer Cell. 2004 Apr;5(4):299-301. (http://www.ncbi.nlm.nih.gov/pubmed/15093533?dopt=Abstract)
  • Bertucci F, Borie N, Ginestier C, Groulet A, Charafe-Jauffret E, Adélaïde J, Geneix J, Bachelart L, Finetti P, Koki A, Hermitte F, Hassoun J, Debono S, Viens P, Fert V, Jacquemier J, Birnbaum D. Identification and validation of an ERBB2 gene expression signature in breast cancers. Oncogene. 2004 Apr 1;23(14):2564-75. (http://www.ncbi.nlm.nih.gov/pubmed/14743203?dopt=Abstract)
  • Cox DG, Hankinson SE, Hunter DJ. The erbB2/HER2/neu receptor polymorphism Ile655Val and breast cancer risk. Pharmacogenet Genomics. 2005 Jul;15(7):447-50. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15970791?dopt=Abstract)
  • Emens LA. Trastuzumab: targeted therapy for the management of HER-2/neu-overexpressing metastatic breast cancer. Am J Ther. 2005 May-Jun;12(3):243-53. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15891269?dopt=Abstract)
  • Ferretti G, Felici A, Papaldo P, Fabi A, Cognetti F. HER2/neu role in breast cancer: from a prognostic foe to a predictive friend. Curr Opin Obstet Gynecol. 2007 Feb;19(1):56-62. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17218853?dopt=Abstract)
  • Järvinen TA, Liu ET. HER-2/neu and topoisomerase IIalpha in breast cancer. Breast Cancer Res Treat. 2003 Apr;78(3):299-311. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12755489?dopt=Abstract)
  • Kaptain S, Tan LK, Chen B. Her-2/neu and breast cancer. Diagn Mol Pathol. 2001 Sep;10(3):139-52. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11552716?dopt=Abstract)
  • Landgraf R. HER2 therapy. HER2 (ERBB2): functional diversity from structurally conserved building blocks. Breast Cancer Res. 2007;9(1):202. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17274834?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2064)
  • Roskoski R Jr. The ErbB/HER receptor protein-tyrosine kinases and cancer. Biochem Biophys Res Commun. 2004 Jun 18;319(1):1-11. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15158434?dopt=Abstract)
  • Stern DF. ErbBs in mammary development. Exp Cell Res. 2003 Mar 10;284(1):89-98. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12648468?dopt=Abstract)
  • Ueda Y, Wang S, Dumont N, Yi JY, Koh Y, Arteaga CL. Overexpression of HER2 (erbB2) in human breast epithelial cells unmasks transforming growth factor beta-induced cell motility. J Biol Chem. 2004 Jun 4;279(23):24505-13. Epub 2004 Mar 24. (http://www.ncbi.nlm.nih.gov/pubmed/15044465?dopt=Abstract)
  • Yang C, Ionescu-Tiba V, Burns K, Gadd M, Zukerberg L, Louis DN, Sgroi D, Schmidt EV. The role of the cyclin D1-dependent kinases in ErbB2-mediated breast cancer. Am J Pathol. 2004 Mar;164(3):1031-8. (http://www.ncbi.nlm.nih.gov/pubmed/14982856?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: December 22, 2014