Recombinant Human Transferrin receptor protein 2 (TFR2), partial

1. In agreement with previous studies with truncated forms of these receptors, holo-Tf binds to the TfR1 homologue significantly stronger than to TfR2. PMID: 29388418
2. Authors retrospectively investigated whether TFR2 isoforms and EPOR are differentially expressed in MDS patients and whether the expression is associated with patients' clinical outcomes. PMID: 26914246
3. unreported iron metabolism-related genes in non-classic hereditary hemochromatosis patients that were predicted to be potentially pathogenic were three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1G>C)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5'-UTR of HAMP gene (c.-25G>A) PMID: 27667161
4. TFR2 expression altered within 4h of HAMP treatment, while HFE expression altered later at 24h and 48h, suggesting that TFR2 may function prior to HFE in HAMP regulation. PMID: 27667164
5. Of the non-HFE forms of iron overload, TFR2-, HFE2-, and HAMP-related forms are predicted to be rare, with pathogenic allele frequencies in the range of 0.00007 to 0.0005. Significantly, SLC40A1 variants that have been previously associated with autosomal-dominant ferroportin disease were identified in several populations (pathogenic allele frequency 0.0004), being most prevalent among Africans PMID: 26633544
6. Transferrin facilitates the formation of DNA double-strand breaks (DNA-DSBs) via transferrin receptor TfR1 but not TfR2. PMID: 26549031
7. In line with a status of iron deficiency, gene expression studies suggested decreased expression of transferrin and transferrin receptor 2 in non-alcoholic steatohepatitis livers PMID: 25000850
8. Our results indicate that membrane transferrin receptor-2, a sensor of circulating iron, is released from the cell membrane in iron deficiency. PMID: 25637053
9. results suggest that down-regulation of CD81 by GRAIL targets TfR2 for degradation PMID: 25635054
10. Polymorphisms of the TRF2 gene may be associated with age-related macular degeneration occurrence, either directly or by modulation of risk factors. PMID: 24648608
11. The variants of rs2075674 and rs7385804 in TFR2 gene were not associated with coronary heart disease risk in a Chinese Han population. PMID: 23751596
12. Present findings support the hypothesis of a main role of the TFR2 gene in HH pathogenesis in those regions, such as Central-Southern Italy, where the p.C282Y frequency is low. PMID: 24055163
13. Authors investigated the expression of TfR1 and TfR2 in human HCC tissues by immunohistochemistry, the first report demonstrating TfR2 expression immunohistochemically in human HCC. PMID: 24901155
14. N-linked glycosylation is dispensable for the cell surface expression and holo-Tf binding, but it is required for efficient intersubunit disulfide bond formation and holo-Tf-induced stabilization of TfR2. PMID: 23556518
15. The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation. PMID: 22728873
16. Mutations in the TFR2 gene is associated with hemochromatosis. PMID: 22890139
17. Data sugggest that TfR-lytic peptide might provide a potent and selective anticancer therapy for patients. PMID: 21849092
18. TfR2 mRNA expression in hyperplastic anemia patients increases and closely correlates with hyperplasia status of bone marrow and anemia level in peripheral blood. PMID: 21518504
19. rs4820268 variant of TFR2 gene is involved in the regulation of serum iron levels. PMID: 21208937
20. Data show that ULBP1, TFR2 and IFITM1 were associated with increased susceptibility to Vgamma9Vdelta2 T-cell cytotoxicity. PMID: 20220060
21. None of the individuals in this cohort of Brazilian patients with the classical phenotype of HH had any of the aforementioned non-C282Y mutations in the HFE gene or any mutations in the TfR2 and SCL40A1 genes. PMID: 19759876
22. findings show that HFE is present in substoichiometric concentrations with respect to both TfR1 and TfR2 in liver tissue; finding supports a model, in which availability of HFE is limiting for formation of complexes with TfR1 or TfR2 PMID: 19819738
23. Hepcidin mRNA expression in vitro is highly sensitive to the presence of serum factors and PI3 kinase inhibition and parallels TfR2 expression PMID: 19924283
24. Relative expression level of TFR2 mRNA in prednisone good responders was significantly higher than that in prednisone poor responders in children with acute leukemia. PMID: 19292036
25. identification of a novel TfR2 mutation in a cohort of non-C282Y iron overload patients of mixed ethnic backgrounds PMID: 12130528
26. TFR2 maps to chromosome 7. It is an alternately spliced protein and lacks the entire transmembrane and cytoplasmic domains. PMID: 12139409
27. production of anti-TFR2 monoclonal antibodies, their characterization, and their use to study TFR2 tissue distribution and up-regulation in response to TF-bound iron PMID: 12393650
28. TfR2 protein levels are approximately 20-fold lower than TfR in erythroid/myeloid cells. TfR & TfR2 have similar cellular localizations in K562 cells & coimmunoprecipitate to only a limited extent. Under nonreducing conditions, they can form heterodimers. PMID: 12406888
29. Expression of HFE and TfR2 proteins in human platelets may indicate that the mutations in the corresponding genes could influence platelet count, size and/or activation. suggests that HFE may serve a different function in platelets. PMID: 12656741
30. unlike TfR1, which recycles apo-Tf back to the cell surface after the release of iron, TfR2 promotes the intracellular deposition of ligand. PMID: 15317665
31. TfR2 acts as a sensor of iron status such that receptor levels reflect transferrin saturation. PMID: 15319276
32. Has a role monitoring iron levels by sensing changes in the concentration of diferric transferrin. PMID: 15319290
33. Urinary hepcidin is low or undetectable in 8 of 10 hemochromatosis cases irrespective of previous phlebotomy treatments, confirming the proposed role of TFR2 as a regulator of hepcidin production. PMID: 15486069
34. TfR2 plays a role in the pathogenesis of hemochromatosis in Japan. PMID: 15749661
35. HFE and TFR2 interact in cells; this interaction is not abrogated by disease-associated mutations of HFE and TFR2; and that TFR2 competes with TFR1 for binding to HFE PMID: 16893896
36. hemojuvelin and TfR2 were predominantly localized to the basolateral membrane domain of hepatocytes; localization of Hjv and TfR2 at the same membrane domain renders a functional interaction of these two proteins in iron homeostasis possible PMID: 16932966
37. Mutational analysis of TfR2 shows that the mutation G679A, which blocks TfR2 binding to diferric transferrin Fe(2)Tf, increases the rate of receptor turnover and prevents stabilization by Fe(2)Tf. PMID: 17182845
38. although holo-Tf binding to the ectodomain is necessary, the cytoplasmic domain of TfR2 is largely responsible for its stabilization by holo-Tf. PMID: 17202145
39. the TfR2/HFE and TfR1/HFE interactions are distinct. PMID: 17956864
40. Transferrin receptor 2 mediates transferrin-bound iron uptake by receptor-mediated endocytosis. PMID: 18083267
41. co-expression of HFE in cells expressing TfR2 led to increased affinity for diferric transferrin, increased transferrin-dependent iron uptake, and relative resistance to iron chelation PMID: 18353247
42. analysis of early-onset haemochromatosis caused by a novel combination of TFR2 mutations [case report] PMID: 18450729
43. TfR2 expression can be modulated through stimuli similar to those known to act on TfR1 and these findings may have important implications for our understanding of the role of TfR2 in the regulation of iron homeostasis. PMID: 19019709
44. In colon cancer cell lines, TfR2 is localized in membrane lipid rafts, induces ERK1/ERK2 phosphorylation, and is preferentially expressed during S-M phases of the cell cycle. PMID: 19729324
45. identified mutations in HFE, SLC40A1, HAMP, HJV, TFR2, and FTL that could explain TRANSFERRIN SATURATION/SERUM FERRITIN heterogeneity in adults with previous HFE genotyping to detect C282Y and H63D; results were correlated with racial groups PMID: 19787796
46. Mice were created that are homozygous for a mutation that is orthologous to the Y250X mutation identified in some patients with hereditary hemochromatosis type 3. The mutant mice showed profound abnormalities in parameters of iron homeostasis. PMID: 12134060

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HGNC: 11762

OMIM: 604250

KEGG: hsa:7036

STRING: 9606.ENSP00000223051

UniGene: Hs.544932