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Genetics Home Reference: your guide to understanding genetic conditions
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ERBB2

The information on this page was automatically extracted from online scientific databases.

What is the official name of the ERBB2 gene?

The official name of this gene is “erb-b2 receptor tyrosine kinase 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?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2064):

This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]

From UniProt (http://www.uniprot.org/uniprot/P04626):

Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. GP30 is a potential ligand for this receptor. Regulates outgrowth and stabilization of peripheral microtubules (MTs). Upon ERBB2 activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits the phosphorylation and thus the inhibition of GSK3B at cell membrane. This prevents the phosphorylation of APC and CLASP2, allowing its association with the cell membrane. In turn, membrane-bound APC allows the localization of MACF1 to the cell membrane, which is required for microtubule capture and stabilization.In the nucleus is involved in transcriptional regulation. Associates with the 5'-TCAAATTC-3' sequence in the PTGS2/COX-2 promoter and activates its transcription. Implicated in transcriptional activation of CDKN1A; the function involves STAT3 and SRC. Involved in the transcription of rRNA genes by RNA Pol I and enhances protein synthesis and cell growth.

How are changes in the ERBB2 gene related to health conditions?

Genetics Home Reference provides information about neuroblastoma, which is associated with changes in the ERBB2 gene.
UniProt (http://www.uniprot.org/uniprot/P04626) provides the following information about the ERBB2 gene's known or predicted involvement in human disease.

Glioma (GLM): Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. The gene represented in this entry is involved in disease pathogenesis.

Ovarian cancer (OC): The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. Disease susceptibility is associated with variations affecting the gene represented in this entry.

Lung cancer (LNCR): A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. The gene represented in this entry is involved in disease pathogenesis.

Gastric cancer (GASC): A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. The gene represented in this entry is involved in disease pathogenesis.

Chromosomal aberrations involving ERBB2 may be a cause gastric cancer. Deletions within 17q12 region producing fusion transcripts with CDK12, leading to CDK12-ERBB2 fusion leading to truncated CDK12 protein not in-frame with ERBB2.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2064) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ERBB2 gene.
  • Glioma susceptibility 1
  • Lung cancer
  • Neoplasm of stomach
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the ERBB2 gene and its association with health conditions.
OMIM
Number
Title

Where is the ERBB2 gene located?

Cytogenetic Location: 17q12

Molecular Location on chromosome 17: base pairs 39,688,083 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 39,688,083 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?

  • CD340
  • HER2
  • HER-2
  • HER-2/neu
  • MLN 19
  • NEU
  • NGL
  • TKR1

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?

adenocarcinoma ; allele ; alternative splicing ; amino acid ; astrocytes ; asymptomatic ; benign ; cancer ; carcinoma ; cell ; cell membrane ; central nervous system ; domain ; epithelial ; esophagus ; gastric ; gene ; glioblastoma ; glioma ; growth factor ; hereditary ; intestine ; isoforms ; kinase ; ligand ; lymph ; metaplasia ; metastasize ; microtubule ; neoplasms ; nervous system ; nucleus ; oligodendrocytes ; ovarian ; peripheral ; phosphorylation ; predisposition ; prognosis ; promoter ; protein ; receptor ; RNA ; splicing ; sporadic ; stage ; stomach ; susceptibility ; syndrome ; synthesis ; tissue ; transcript ; transcription ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

 

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.

 
Published: June 29, 2015