Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
TFR2

TFR2

Reviewed October 2006

What is the official name of the TFR2 gene?

The official name of this gene is “transferrin receptor 2.”

TFR2 is the gene's official symbol. The TFR2 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 TFR2 gene?

The TFR2 gene provides instructions for making a protein called transferrin receptor 2. Studies suggest that this receptor helps iron enter liver cells (hepatocytes). In the blood, iron binds to a protein called transferrin for transport and delivery to the liver and other tissues. On the cell surface, transferrin binds to transferrin receptor 2, and iron is allowed to enter the cell. Additionally, this receptor helps sense and regulate iron storage levels in the body by controlling the levels of another protein called hepcidin. Hepcidin is a protein that determines how much iron is absorbed from the diet and released from storage sites in the body in response to iron levels.

How are changes in the TFR2 gene related to health conditions?

hemochromatosis - caused by mutations in the TFR2 gene

At least nine different mutations that cause type 3 hemochromatosis have been identified in the TFR2 gene. Some mutations in the TFR2 gene prevent the production of transferrin receptor 2. Other mutations result in proteins that have an incorrect sequence of protein building blocks (amino acids) or proteins that are too short to function normally. These mutations likely impair the ability to regulate importation of iron into certain cells.

Mutations in the TFR2 gene are also thought to contribute to low levels of hepcidin in the body, which allows too much iron to be absorbed from the diet. When this occurs, the excess iron is stored in the body's tissues, especially the liver. Iron overload leads to the organ damage and other signs and symptoms of type 3 hemochromatosis.

Where is the TFR2 gene located?

Cytogenetic Location: 7q22

Molecular Location on chromosome 7: base pairs 100,620,415 to 100,642,772

The TFR2 gene is located on the long (q) arm of chromosome 7 at position 22.

The TFR2 gene is located on the long (q) arm of chromosome 7 at position 22.

More precisely, the TFR2 gene is located from base pair 100,620,415 to base pair 100,642,772 on chromosome 7.

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

Where can I find additional information about TFR2?

You and your healthcare professional may find the following resources about TFR2 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 TFR2 gene or gene products?

  • HFE3
  • TFR2_HUMAN
  • Transferrin Receptor Protein 2

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 TFR2?

acids ; cell ; gene ; iron ; metabolism ; protein ; receptor ; transferrin

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

See also Understanding Medical Terminology.

References (16 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 2006
Published: December 16, 2014