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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?
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.
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?
See How are genetic conditions and genes named? in the Handbook.
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?
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.