Transferrin receptor 2 (TfR2) is a protein that in humans is encoded by the TFR2gene.[1][2] This protein is involved in the uptake of transferrin-bound iron into cells by endocytosis, although its role is minor compared to transferrin receptor 1.
This gene is a member of the transferrin receptor-like family and encodes a single-pass type II membrane protein with a protease associated (PA) domain, an M28 peptidase domain and a transferrin receptor-like dimerization domain. This protein mediates cellular uptake of transferrin-bound iron and mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.[3]
↑Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, Butterfield Y, Rodrigues P, Jones S, Porto G, Marra M, De Sousa M, Vatcher G (Jul 2002). "Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation". Blood. 100 (3): 1075–7. doi:10.1182/blood-2002-01-0133. PMID12130528.
Trinder D, Baker E (2003). "Transferrin receptor 2: a new molecule in iron metabolism". Int. J. Biochem. Cell Biol. 35 (3): 292–6. doi:10.1016/S1357-2725(02)00258-3. PMID12531241.
Franchini M (2006). "Hereditary iron overload: update on pathophysiology, diagnosis, and treatment". Am. J. Hematol. 81 (3): 202–9. doi:10.1002/ajh.20493. PMID16493621.
Kawabata H, Yang R, Hirama T, et al. (1999). "Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family". J. Biol. Chem. 274 (30): 20826–32. doi:10.1074/jbc.274.30.20826. PMID10409623.
Bennett MJ, Lebrón JA, Bjorkman PJ (2000). "Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor". Nature. 403 (6765): 46–53. doi:10.1038/47417. PMID10638746.
Kawabata H, Germain RS, Vuong PT, et al. (2000). "Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivo". J. Biol. Chem. 275 (22): 16618–25. doi:10.1074/jbc.M908846199. PMID10748106.
Camaschella C, Roetto A, Calì A, et al. (2000). "The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22". Nat. Genet. 25 (1): 14–5. doi:10.1038/75534. PMID10802645.
West AP, Bennett MJ, Sellers VM, et al. (2001). "Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE". J. Biol. Chem. 275 (49): 38135–8. doi:10.1074/jbc.C000664200. PMID11027676.
Roetto A, Totaro A, Piperno A, et al. (2001). "New mutations inactivating transferrin receptor 2 in hemochromatosis type 3". Blood. 97 (9): 2555–60. doi:10.1182/blood.V97.9.2555. PMID11313241.
Kawabata H, Nakamaki T, Ikonomi P, et al. (2001). "Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cells". Blood. 98 (9): 2714–9. doi:10.1182/blood.V98.9.2714. PMID11675342.
Hofmann WK, Tong XJ, Ajioka RS, et al. (2002). "Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis". Blood. 100 (3): 1099–100. doi:10.1182/blood-2002-04-1077. PMID12150153.
Deaglio S, Capobianco A, Calì A, et al. (2003). "Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and a polyclonal antiserum". Blood. 100 (10): 3782–9. doi:10.1182/blood-2002-01-0076. PMID12393650.
Vogt TM, Blackwell AD, Giannetti AM, et al. (2003). "Heterotypic interactions between transferrin receptor and transferrin receptor 2". Blood. 101 (5): 2008–14. doi:10.1182/blood-2002-09-2742. PMID12406888.
