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Reviewed October 2015

What is the official name of the EGFR gene?

The official name of this gene is “epidermal growth factor receptor.”

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

Read more about gene names and symbols on the About page.

What is the normal function of the EGFR gene?

The EGFR gene provides instructions for making a receptor protein called the epidermal growth factor receptor, which spans the cell membrane so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This positioning allows the receptor to attach (bind) to other proteins, called ligands, outside the cell and to receive signals that help the cell respond to its environment. Ligands and receptors fit together like keys into locks. Epidermal growth factor receptor binds to at least seven different ligands. The binding of a ligand to an epidermal growth factor receptor allows the receptor to attach to a nearby receptor protein (dimerize), turning on (activating) the receptor complex. As a result, signaling pathways within the cell are triggered that promote cell growth and division (proliferation) and cell survival.

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

lung cancer - associated with the EGFR gene

At least eight mutations in the EGFR gene have been associated with lung cancer, a disease in which certain cells in the lung become abnormal and multiply uncontrollably to form a tumor. Nearly all these EGFR gene mutations occur during a person's lifetime (somatic) and are only present in cancer cells. Other genetic, environmental, and lifestyle factors also contribute to a person's cancer risk; in lung cancer, the greatest risk factor is being a long-term tobacco smoker.

Somatic mutations in the EGFR gene most often occur in a type of lung cancer called non-small cell lung cancer, specifically a form called adenocarcinoma. These mutations are most common in people with the disease who have never smoked. Somatic EGFR gene mutations occur more frequently in Asian populations with lung cancer than in affected white populations, occurring in 30 to 40 percent of affected Asians compared to 10 to 15 percent of whites with lung cancer.

Most of the somatic EGFR gene mutations that are associated with lung cancer delete genetic material in a part of the gene known as exon 19 or change DNA building blocks (nucleotides) in another region called exon 21. These gene changes result in a receptor protein that is constantly turned on (constitutively activated), even when it is not bound to a ligand. As a result, cells are signaled to constantly proliferate and survive, leading to tumor formation. When these gene changes occur in cells in the lungs, lung cancer develops.

Lung cancers with EGFR gene mutations tend to respond to treatments that target the overactive signaling pathways that allow cancer cells to constantly grow and divide.

Where is the EGFR gene located?

Cytogenetic Location: 7p12

Molecular Location on chromosome 7: base pairs 55,019,032 to 55,207,338

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The EGFR gene is located on the short (p) arm of chromosome 7 at position 12.

The EGFR gene is located on the short (p) arm of chromosome 7 at position 12.

More precisely, the EGFR gene is located from base pair 55,019,032 to base pair 55,207,338 on chromosome 7.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about EGFR?

You and your healthcare professional may find the following resources about EGFR 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 EGFR gene or gene products?

  • cell growth inhibiting protein 40
  • cell proliferation-inducing protein 61
  • ERBB
  • ERBB1
  • erb-b2 receptor tyrosine kinase 1
  • HER1
  • mENA
  • NISBD2
  • PIG61
  • proto-oncogene c-ErbB-1
  • receptor tyrosine-protein kinase erbB-1

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding EGFR?

adenocarcinoma ; cancer ; cell ; cell membrane ; cell proliferation ; DNA ; exon ; gene ; growth factor ; kinase ; ligand ; oncogene ; personalized medicine ; pharmacogenetics ; pharmacogenomics ; proliferate ; proliferation ; protein ; proto-oncogene ; receptor ; tumor ; tyrosine

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

See also Understanding Medical Terminology.

References (5 links)


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? in the Handbook.

Reviewed: October 2015
Published: February 1, 2016