From Wikipedia, the free encyclopedia
Mammalian protein found in Homo sapiens
Transferrin receptor 2 (TfR2 ) is a
protein that in humans is encoded by the TFR2
gene .
[5]
[6] 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.
[7]
See also
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000106327 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000029716 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Glockner G, Scherer S, Schattevoy R, Boright A, Weber J, Tsui LC, Rosenthal A (Dec 1998).
"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" . Genome Res . 8 (10): 1060–73.
doi :
10.1101/gr.8.10.1060 .
PMC
310788 .
PMID
9799793 .
^ 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 .
hdl :
10400.16/826 .
PMID
12130528 .
^
"Entrez Gene: TFR2 transferrin receptor 2" .
Further reading
Subramaniam VN, Summerville L, Wallace DF (2003). "Molecular and cellular characterization of transferrin receptor 2". Cell Biochem. Biophys . 36 (2–3): 235–9.
doi :
10.1385/CBB:36:2-3:235 .
PMID
12139409 .
S2CID
278321 .
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 .
PMID
12531241 .
Franchini M (2006).
"Hereditary iron overload: update on pathophysiology, diagnosis, and treatment" . Am. J. Hematol . 81 (3): 202–9.
doi :
10.1002/ajh.20493 .
PMID
16493621 .
S2CID
40950367 .
Deicher R, Hörl WH (2006).
"New insights into the regulation of iron homeostasis" . Eur. J. Clin. Invest . 36 (5): 301–9.
doi :
10.1111/j.1365-2362.2006.01633.x .
PMID
16634833 .
S2CID
1726652 .
Feder JN, Penny DM, Irrinki A, et al. (1998).
"The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding" . Proc. Natl. Acad. Sci. U.S.A . 95 (4): 1472–7.
Bibcode :
1998PNAS...95.1472F .
doi :
10.1073/pnas.95.4.1472 .
PMC
19050 .
PMID
9465039 .
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 .
PMID
10409623 .
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 .
PMID
10638746 .
S2CID
4427272 .
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 .
PMID
10748106 .
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 .
PMID
10802645 .
S2CID
9227077 .
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" (PDF) . J. Biol. Chem . 275 (49): 38135–8.
doi :
10.1074/jbc.C000664200 .
PMID
11027676 .
S2CID
14295069 .
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 .
PMID
11313241 .
S2CID
36015072 .
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 .
PMID
11675342 .
Fleming RE, Ahmann JR, Migas MC, et al. (2002).
"Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis" . Proc. Natl. Acad. Sci. U.S.A . 99 (16): 10653–8.
doi :
10.1073/pnas.162360699 .
PMC
125003 .
PMID
12134060 .
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 .
PMID
12150153 .
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 .
PMID
12393650 .
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 .
PMID
12406888 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2003).
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
12477932 .
External links