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.
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?
- hereditary hemochromatosis - caused by mutations in the TFR2 gene
At least nine mutations that cause a form of hereditary hemochromatosis designated as type 3 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 100,620,416 to 100,642,765
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 100,620,416 to base pair 100,642,765 on chromosome 7.
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 TFR2?
You and your healthcare professional may find the following resources about TFR2 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1349)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for TFR2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7036%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28TFR2%5BTIAB%5D%29%20OR%20%28transferrin%20receptor%202%5BTIAB%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/604720)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_TFR2.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=11762)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7036)
What other names do people use for the TFR2 gene or gene products?
- Transferrin Receptor Protein 2
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 TFR2?
You may find definitions for these and many other terms in the Genetics Home Reference
- Beutler E, Hoffbrand AV, Cook JD. Iron deficiency and overload. Hematology Am Soc Hematol Educ Program. 2003:40-61. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14633776?dopt=Abstract)
- Camaschella C, Roetto A, Calì A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet. 2000 May;25(1):14-5. (http://www.ncbi.nlm.nih.gov/pubmed/10802645?dopt=Abstract)
- Camaschella C. Why do humans need two types of transferrin receptor? Lessons from a rare genetic disorder. Haematologica. 2005 Mar;90(3):296. (http://www.ncbi.nlm.nih.gov/pubmed/15749659?dopt=Abstract)
- Deaglio S, Capobianco A, Calì A, Bellora F, Alberti F, Righi L, Sapino A, Camaschella C, Malavasi F. Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and a polyclonal antiserum. Blood. 2002 Nov 15;100(10):3782-9. Epub 2002 Jul 5. (http://www.ncbi.nlm.nih.gov/pubmed/12393650?dopt=Abstract)
- Deicher R, Hörl WH. New insights into the regulation of iron homeostasis. Eur J Clin Invest. 2006 May;36(5):301-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16634833?dopt=Abstract)
- Fleming RE, Sly WS. Mechanisms of iron accumulation in hereditary hemochromatosis. Annu Rev Physiol. 2002;64:663-80. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11826284?dopt=Abstract)
- Fleming RE. Advances in understanding the molecular basis for the regulation of dietary iron absorption. Curr Opin Gastroenterol. 2005 Mar;21(2):201-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15711214?dopt=Abstract)
- Frazer DM, Anderson GJ. The orchestration of body iron intake: how and where do enterocytes receive their cues? Blood Cells Mol Dis. 2003 May-Jun;30(3):288-97. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12737947?dopt=Abstract)
- Le Gac G, Mons F, Jacolot S, Scotet V, Férec C, Frébourg T. Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. Br J Haematol. 2004 Jun;125(5):674-8. (http://www.ncbi.nlm.nih.gov/pubmed/15147384?dopt=Abstract)
- McGregor J, McKie AT, Simpson RJ. Of mice and men: genetic determinants of iron status. Proc Nutr Soc. 2004 Feb;63(1):11-20. (http://www.ncbi.nlm.nih.gov/pubmed/15070436?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7036)
- Pietrangelo A. Hereditary hemochromatosis--a new look at an old disease. N Engl J Med. 2004 Jun 3;350(23):2383-97. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15175440?dopt=Abstract)
- Pietrangelo A. Non-HFE hemochromatosis. Semin Liver Dis. 2005 Nov;25(4):450-60. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16315138?dopt=Abstract)
- Roetto A, Daraio F, Alberti F, Porporato P, Calì A, De Gobbi M, Camaschella C. Hemochromatosis due to mutations in transferrin receptor 2. Blood Cells Mol Dis. 2002 Nov-Dec;29(3):465-70. (http://www.ncbi.nlm.nih.gov/pubmed/12547237?dopt=Abstract)
- SwissProt for TFR2 (http://www.uniprot.org/uniprot/Q9UP52)
- Trinder D, Baker E. Transferrin receptor 2: a new molecule in iron metabolism. Int J Biochem Cell Biol. 2003 Mar;35(3):292-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12531241?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.