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transferrin receptor 2

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{{Short description|Mammalian protein found in Homo sapiens}}

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Transferrin receptor 2 (TfR2) is a protein that in humans is encoded by the TFR2 gene.{{cite journal |vauthors=Glockner G, Scherer S, Schattevoy R, Boright A, Weber J, Tsui LC, Rosenthal A | 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 |date=Dec 1998 | pmid = 9799793 | pmc = 310788 | doi = 10.1101/gr.8.10.1060}}{{cite journal |vauthors=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 | 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 |date=Jul 2002 | pmid = 12130528 | doi = 10.1182/blood-2002-01-0133 | hdl = 10400.16/826 | doi-access = free | hdl-access = free }} 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.

Function

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 = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7036}}

See also

References

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Further reading

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  • {{cite journal |vauthors=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=10.1385/CBB:36:2-3:235 |s2cid=278321 }}
  • {{cite journal |vauthors=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=10.1016/S1357-2725(02)00258-3 }}
  • {{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 |s2cid=40950367 |doi-access=free }}
  • {{cite journal |vauthors=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 |s2cid=1726652 |doi-access=free }}
  • {{cite journal |vauthors=Feder JN, Penny DM, Irrinki A, etal |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=10.1073/pnas.95.4.1472 | pmc=19050 |bibcode=1998PNAS...95.1472F |doi-access=free }}
  • {{cite journal |vauthors=Kawabata H, Yang R, Hirama T, etal |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=10.1074/jbc.274.30.20826 |doi-access=free }}
  • {{cite journal |vauthors=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 |s2cid=4427272 }}
  • {{cite journal |vauthors=Kawabata H, Germain RS, Vuong PT, etal |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 |doi-access= free }}
  • {{cite journal |vauthors=Camaschella C, Roetto A, Calì A, etal |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 |s2cid=9227077 }}
  • {{cite journal |vauthors=West AP, Bennett MJ, Sellers VM, etal |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 |s2cid=14295069 |url=https://authors.library.caltech.edu/6138/1/WESjbc00.pdf |doi-access=free }}
  • {{cite journal |vauthors=Roetto A, Totaro A, Piperno A, etal |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=10.1182/blood.V97.9.2555 |s2cid=36015072 |doi-access=free }}
  • {{cite journal |vauthors=Kawabata H, Nakamaki T, Ikonomi P, etal |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=10.1182/blood.V98.9.2714 |doi-access=free }}
  • {{cite journal |vauthors=Fleming RE, Ahmann JR, Migas MC, etal |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 | pmc=125003 |doi-access=free }}
  • {{cite journal |vauthors=Hofmann WK, Tong XJ, Ajioka RS, etal |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=10.1182/blood-2002-04-1077 |doi-access=free }}
  • {{cite journal |vauthors=Deaglio S, Capobianco A, Calì A, etal |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 |doi-access= free }}
  • {{cite journal |vauthors=Vogt TM, Blackwell AD, Giannetti AM, etal |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 |url=http://www.escholarship.org/uc/item/2x03w1gd |doi-access=free }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}

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External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tfr2 GeneReviews/NIH/NCBI/UW entry on TFR2-Related or Type 3 Hereditary Hemochromatosis]

{{Iron metabolism}}

Category:Iron metabolism

Category:Transferrins

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