TFR2

Transferrin receptor 2, also known as TFR2, is a human gene.

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: TFR2 transferrin receptor 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7036| accessdate = ]

ee also

* Transferrin
* Transferrin receptor

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Subramaniam VN, Summerville L, Wallace DF |title=Molecular and cellular characterization of transferrin receptor 2. |journal=Cell Biochem. Biophys. |volume=36 |issue= 2-3 |pages= 235–9 |year= 2003 |pmid= 12139409 |doi=
*cite journal | author=Trinder D, Baker E |title=Transferrin receptor 2: a new molecule in iron metabolism. |journal=Int. J. Biochem. Cell Biol. |volume=35 |issue= 3 |pages= 292–6 |year= 2003 |pmid= 12531241 |doi=
*cite journal | author=Franchini M |title=Hereditary iron overload: update on pathophysiology, diagnosis, and treatment. |journal=Am. J. Hematol. |volume=81 |issue= 3 |pages= 202–9 |year= 2006 |pmid= 16493621 |doi= 10.1002/ajh.20493
*cite journal | author=Deicher R, Hörl WH |title=New insights into the regulation of iron homeostasis. |journal=Eur. J. Clin. Invest. |volume=36 |issue= 5 |pages= 301–9 |year= 2006 |pmid= 16634833 |doi= 10.1111/j.1365-2362.2006.01633.x
*cite journal | author=Feder JN, Penny DM, Irrinki A, "et al." |title=The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 4 |pages= 1472–7 |year= 1998 |pmid= 9465039 |doi=
*cite journal | author=Glöckner G, Scherer S, Schattevoy R, "et al." |title=Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. |journal=Genome Res. |volume=8 |issue= 10 |pages= 1060–73 |year= 1998 |pmid= 9799793 |doi=
*cite journal | author=Kawabata H, Yang R, Hirama T, "et al." |title=Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family. |journal=J. Biol. Chem. |volume=274 |issue= 30 |pages= 20826–32 |year= 1999 |pmid= 10409623 |doi=
*cite journal | author=Bennett MJ, Lebrón JA, Bjorkman PJ |title=Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. |journal=Nature |volume=403 |issue= 6765 |pages= 46–53 |year= 2000 |pmid= 10638746 |doi= 10.1038/47417
*cite journal | author=Kawabata H, Germain RS, Vuong PT, "et al." |title=Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivo. |journal=J. Biol. Chem. |volume=275 |issue= 22 |pages= 16618–25 |year= 2000 |pmid= 10748106 |doi= 10.1074/jbc.M908846199
*cite journal | author=Camaschella C, Roetto A, Calì A, "et al." |title=The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. |journal=Nat. Genet. |volume=25 |issue= 1 |pages= 14–5 |year= 2000 |pmid= 10802645 |doi= 10.1038/75534
*cite journal | author=West AP, Bennett MJ, Sellers VM, "et al." |title=Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE. |journal=J. Biol. Chem. |volume=275 |issue= 49 |pages= 38135–8 |year= 2001 |pmid= 11027676 |doi= 10.1074/jbc.C000664200
*cite journal | author=Roetto A, Totaro A, Piperno A, "et al." |title=New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. |journal=Blood |volume=97 |issue= 9 |pages= 2555–60 |year= 2001 |pmid= 11313241 |doi=
*cite journal | author=Kawabata H, Nakamaki T, Ikonomi P, "et al." |title=Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cells. |journal=Blood |volume=98 |issue= 9 |pages= 2714–9 |year= 2001 |pmid= 11675342 |doi=
*cite journal | author=Mattman A, Huntsman D, Lockitch G, "et al." |title=Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. |journal=Blood |volume=100 |issue= 3 |pages= 1075–7 |year= 2002 |pmid= 12130528 |doi= 10.1182/blood-2002-01-0133
*cite journal | author=Fleming RE, Ahmann JR, Migas MC, "et al." |title=Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 16 |pages= 10653–8 |year= 2002 |pmid= 12134060 |doi= 10.1073/pnas.162360699
*cite journal | author=Hofmann WK, Tong XJ, Ajioka RS, "et al." |title=Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. |journal=Blood |volume=100 |issue= 3 |pages= 1099–100 |year= 2002 |pmid= 12150153 |doi=
*cite journal | author=Deaglio S, Capobianco A, Calì A, "et al." |title=Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and a polyclonal antiserum. |journal=Blood |volume=100 |issue= 10 |pages= 3782–9 |year= 2003 |pmid= 12393650 |doi= 10.1182/blood-2002-01-0076
*cite journal | author=Vogt TM, Blackwell AD, Giannetti AM, "et al." |title=Heterotypic interactions between transferrin receptor and transferrin receptor 2. |journal=Blood |volume=101 |issue= 5 |pages= 2008–14 |year= 2003 |pmid= 12406888 |doi= 10.1182/blood-2002-09-2742
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899

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