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    TFR2 transferrin receptor 2 [ Homo sapiens (human) ]

    Gene ID: 7036, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Circ-STC2 promotes the ferroptosis of nucleus pulposus cells via targeting miR-486-3p/TFR2 axis.

    Circ-STC2 promotes the ferroptosis of nucleus pulposus cells via targeting miR-486-3p/TFR2 axis.
    Xiong L, Li X, Hua X, Qian Z., Free PMC Article

    10/26/2023
    TFR2 regulates ferroptosis and enhances temozolomide chemo-sensitization in gliomas.

    TFR2 regulates ferroptosis and enhances temozolomide chemo-sensitization in gliomas.
    Tong S, Hong Y, Xu Y, Sun Q, Ye L, Cai J, Ye Z, Chen Q, Tian D.

    02/27/2023
    Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.

    Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.
    Dissanayake R, Samarasinghe N, Waidyanatha S, Pathirana S, Neththikumara N, Dissanayake VHW, Wetthasinghe K, Gooneratne L, Wickramasinghe P., Free PMC Article

    06/25/2022
    New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

    New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
    Hernández G, Ferrer-Cortès X, Venturi V, Musri M, Pilquil MF, Torres PMM, Rodríguez IH, Mínguez MÀR, Kelleher NJ, Pelucchi S, Piperno A, Alberca EP, Ricós GG, Giró EC, Pérez-Montero S, Tornador C, Villà-Freixa J, Sánchez M., Free PMC Article

    04/30/2022
    Evaluation of the Association of Transferrin Receptor Type 2 Gene Mutation (Y250X) with Iron Overload in Major beta- Thalassemia.

    Evaluation of the Association of Transferrin Receptor Type 2 Gene Mutation (Y250X) with Iron Overload in Major β- Thalassemia.
    Abdulmalek Jaafar J, Al-Rashedi NAM., Free PMC Article

    04/9/2022
    Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.

    Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.
    Barton JC, Wiener HW, Acton RT.

    04/2/2022
    Iron-loaded transferrin potentiates erythropoietin effects on erythroblast proliferation and survival: a novel role through transferrin receptors.

    Iron-loaded transferrin potentiates erythropoietin effects on erythroblast proliferation and survival: a novel role through transferrin receptors.
    Fouquet G, Thongsa-Ad U, Lefevre C, Rousseau A, Tanhuad N, Khongkla E, Saengsawang W, Anurathapan U, Hongeng S, Maciel TT, Hermine O, Bhukhai K.

    10/16/2021
    Low expression of transferrin receptor 2 predict poor prognosis in gastric cancer patients.

    Low expression of transferrin receptor 2 predict poor prognosis in gastric cancer patients.
    Zhao QF, Ji J, Cai Q, Wang C, Shi M, Zhou CF, Zhu ZG, Zhang J.

    10/9/2021
    Orphan Nuclear Receptor ERRgamma Is a Transcriptional Regulator of CB1 Receptor-Mediated TFR2 Gene Expression in Hepatocytes.

    Orphan Nuclear Receptor ERRγ Is a Transcriptional Regulator of CB1 Receptor-Mediated TFR2 Gene Expression in Hepatocytes.
    Kim BE, Choi B, Park WR, Kim YJ, Kim IY, Jung YS, Kim YH, Lee CH, Choi HS, Kim DK., Free PMC Article

    07/17/2021
    Transferrin receptor 1 (TfR1) mediates cellular uptake of holo-Tf and H-ferritin; New World arenaviruses and Plasmodium vivax use TfR1 for entry into host cells. In hepatocytes, TfR2 forms a complex with HFE and serves as an iron sensor. In erythroblasts, TfR2 forms a complex with EPO receptor and regulates erythropoiesis.

    Transferrin and transferrin receptors update.
    Kawabata H.

    02/15/2020
    TfR2 -Y250X and TfR1-rs3817672 SNP showed clinical association with iron deficiency anemia

    Role of TfR2-Y250X and TfR1- rs3817672 Single Nucleotide Polymorphism on Pathophysiology of Iron Deficiency Anemia.
    Pandey S, Pandey SK, Shah V.

    12/21/2019
    In agreement with previous studies with truncated forms of these receptors, holo-Tf binds to the TfR1 homologue significantly stronger than to TfR2.

    Transferrin Receptors TfR1 and TfR2 Bind Transferrin through Differing Mechanisms.
    Kleven MD, Jue S, Enns CA., Free PMC Article

    05/12/2018
    Authors retrospectively investigated whether TFR2 isoforms and EPOR are differentially expressed in MDS patients and whether the expression is associated with patients' clinical outcomes.

    Clinical significance of TFR2 and EPOR expression in bone marrow cells in myelodysplastic syndromes.
    Di Savino A, Gaidano V, Palmieri A, Crasto F, Volpengo A, Lorenzatti R, Scaravaglio P, Manello A, Nicoli P, Gottardi E, Saglio G, Cilloni D, De Gobbi M.

    02/24/2018
    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.

    Characterization of hepcidin response to holotransferrin in novel recombinant TfR1 HepG2 cells.
    Mehta K, Busbridge M, Renshaw D, Evans RW, Farnaud S, Patel VB.

    01/13/2018
    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)

    Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.
    Faria R, Silva B, Silva C, Loureiro P, Queiroz A, Fraga S, Esteves J, Mendes D, Fleming R, Vieira L, Gonçalves J, Faustino P.

    01/13/2018
    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

    The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
    Wallace DF, Subramaniam VN.

    12/16/2017
    Transferrin facilitates the formation of DNA double-strand breaks (DNA-DSBs) via transferrin receptor TfR1 but not TfR2.

    Transferrin facilitates the formation of DNA double-strand breaks via transferrin receptor 1: the possible involvement of transferrin in carcinogenesis of high-grade serous ovarian cancer.
    Shigeta S, Toyoshima M, Kitatani K, Ishibashi M, Usui T, Yaegashi N.

    09/16/2017
    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

    Novel pathway for iron deficiency in pediatric non-alcoholic steatohepatitis.
    Moya D, Baker SS, Liu W, Garrick M, Kozielski R, Baker RD, Zhu L.

    02/27/2016
    Our results indicate that membrane transferrin receptor-2, a sensor of circulating iron, is released from the cell membrane in iron deficiency.

    Regulation of cell surface transferrin receptor-2 by iron-dependent cleavage and release of a soluble form.
    Pagani A, Vieillevoye M, Nai A, Rausa M, Ladli M, Lacombe C, Mayeux P, Verdier F, Camaschella C, Silvestri L., Free PMC Article

    09/26/2015
    results suggest that down-regulation of CD81 by GRAIL targets TfR2 for degradation

    CD81 promotes both the degradation of transferrin receptor 2 (TfR2) and the Tfr2-mediated maintenance of hepcidin expression.
    Chen J, Enns CA., Free PMC Article

    07/4/2015
    Polymorphisms of the TRF2 gene may be associated with age-related macular degeneration occurrence, either directly or by modulation of risk factors.

    Variability of the transferrin receptor 2 gene in AMD.
    Wysokinski D, Blasiak J, Dorecka M, Kowalska M, Robaszkiewicz J, Pawlowska E, Szaflik J, Szaflik JP., Free PMC Article

    01/24/2015
    The variants of rs2075674 and rs7385804 in TFR2 gene were not associated with coronary heart disease risk in a Chinese Han population.

    Association between genetic variations in TFR2 gene and coronary heart disease in Chinese: a case-control study.
    Shi Y, Lian Y, Zhou L, Huang L, Zhang X, Guo H, Wu T, Cheng L, He M.

    12/20/2014
    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.

    TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.
    Radio FC, Majore S, Binni F, Valiante M, Ricerca BM, De Bernardo C, Morrone A, Grammatico P.

    08/16/2014
    Authors investigated the expression of TfR1 and TfR2 in human HCC tissues by immunohistochemistry, the first report demonstrating TfR2 expression immunohistochemically in human HCC.

    Immunohistochemical demonstration of transferrin receptor 1 and 2 in human hepatocellular carcinoma tissue.
    Sakurai K, Sohda T, Ueda S, Tanaka T, Hirano G, Yokoyama K, Morihara D, Aanan A, Takeyama Y, Irie M, Iwata K, Syakado S, Noritomiz T, Yamashita Y, Sakisaka S.

    06/21/2014
    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.

    N-linked glycosylation is required for transferrin-induced stabilization of transferrin receptor 2, but not for transferrin binding or trafficking to the cell surface.
    Zhao N, Enns CA., Free PMC Article

    02/15/2014
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