transferrin receptor 2

Summary

Gene Symbol: transferrin receptor 2
Description: transferrin receptor 2
Alias: HFE3, TFRC2, transferrin receptor protein 2
Species: human

Top Publications

  1. ncbi Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation
    Andre Mattman
    Genes, Elements, and Metabolism Program, Children and Women s Hospital of British Columbia, Vancouver, British Columbia, Canada
    Blood 100:1075-7. 2002
  2. ncbi Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family
    H Kawabata
    Cedars Sinai Medical Center, Department of Medicine, Division of Hematology Oncology, Burns and Allen Research Institute, University of California Los Angeles School of Medicine, Los Angeles, California 90048, USA
    J Biol Chem 274:20826-32. 1999
  3. ncbi Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivo
    H Kawabata
    Cedars Sinai Medical Center, Department of Medicine, Division of Hematology Oncology, Burns and Allen Research Institute, UCLA School of Medicine, Los Angeles, California 90048, USA
    J Biol Chem 275:16618-25. 2000
  4. ncbi The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
    C Camaschella
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Azienda Ospedaliera S Luigi, Orbassano Torino, Italy
    Nat Genet 25:14-5. 2000
  5. ncbi New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
    A Roetto
    Dipartimento di Scienze Cliniche e Biologiche, Azienda Ospedaliera S Luigi, Orbassano and Dipartimento di Pediatria, OIRM S Anna, Turin, Italy
    Blood 97:2555-60. 2001
  6. ncbi Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload
    E H Barton
    Immunogenetics Program, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Blood Cells Mol Dis 27:279-84. 2001
  7. pmc Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis
    Robert E Fleming
    Department of Pediatrics, Saint Louis University School of Medicine, MO 63104, USA
    Proc Natl Acad Sci U S A 99:10653-8. 2002
  8. ncbi Regulation of transferrin receptor 2 protein levels by transferrin
    Aeisha Robb
    Harvard School of Public Health, Department of Genetics and Complex Diseases, 665 Huntington Ave, Boston, MA 02115, USA
    Blood 104:4294-9. 2004
  9. ncbi Diferric transferrin regulates transferrin receptor 2 protein stability
    Martha B Johnson
    Department of Biochemistry, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA
    Blood 104:4287-93. 2004
  10. ncbi Hepcidin is decreased in TFR2 hemochromatosis
    Elizabeta Nemeth
    Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Blood 105:1803-6. 2005

Research Grants

  1. Role of Transferrin Receptor 2 in Iron Homeostasis
    Robert Fleming; Fiscal Year: 2007
  2. CAROLINE ENNS; Fiscal Year: 2016
  3. Hemochromatosis - Epidemiology and Molecular Mechanisms
    Pauline L Lee; Fiscal Year: 2010
  4. BMP Signaling and Iron Metabolism
    Jodie L Babitt; Fiscal Year: 2010
  5. Stefano Rivella; Fiscal Year: 2015
  6. Mitochondrial Proteins in Parkinson's Disease
    J Timothy Greenamyre; Fiscal Year: 2013
  7. GATA2 as a therapeutic target in Parkinson's disease
    MAX PARVEN HOROWITZ; Fiscal Year: 2013
  8. Genomic Instability and Senescence in Cancer
    Lynne Elmore; Fiscal Year: 2009
  9. IRON TRANSPORT IN A MURINE MODEL OF HEMOCHROMATOSIS
    Robert Fleming; Fiscal Year: 2004
  10. Genetic Analysis of Iron Homeostasis in Zebrafish
    Paula Fraenkel; Fiscal Year: 2006

Scientific Experts

Detail Information

Publications174 found, 100 shown here

  1. ncbi Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation
    Andre Mattman
    Genes, Elements, and Metabolism Program, Children and Women s Hospital of British Columbia, Vancouver, British Columbia, Canada
    Blood 100:1075-7. 2002
    ..Pathogenic mutations of the transferrin receptor 2 (TfR2) gene have been identified in 4 Italian pedigrees with the latter syndrome...
  2. ncbi Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family
    H Kawabata
    Cedars Sinai Medical Center, Department of Medicine, Division of Hematology Oncology, Burns and Allen Research Institute, University of California Los Angeles School of Medicine, Los Angeles, California 90048, USA
    J Biol Chem 274:20826-32. 1999
    ..Also, these cells had a marked increase in Tf-bound (55)Fe uptake. Taken together, TfR2-alpha may be a second transferrin receptor that can mediate cellular iron transport...
  3. ncbi Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivo
    H Kawabata
    Cedars Sinai Medical Center, Department of Medicine, Division of Hematology Oncology, Burns and Allen Research Institute, UCLA School of Medicine, Los Angeles, California 90048, USA
    J Biol Chem 275:16618-25. 2000
    ..We recently cloned the human transferrin receptor 2 (TfR2) gene, which encodes a second receptor for transferrin (Kawabata, H., Yang, R., Hirama, T., Vuong, P...
  4. ncbi The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
    C Camaschella
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Azienda Ospedaliera S Luigi, Orbassano Torino, Italy
    Nat Genet 25:14-5. 2000
    ..A locus for juvenile haemochromatosis (HFE2) maps to 1q (ref. 7). Here we report a new locus (HFE3) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor-2 (TFR2) is found ..
  5. ncbi New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
    A Roetto
    Dipartimento di Scienze Cliniche e Biologiche, Azienda Ospedaliera S Luigi, Orbassano and Dipartimento di Pediatria, OIRM S Anna, Turin, Italy
    Blood 97:2555-60. 2001
    ..Patients with HFE3 have transferrin receptor 2 (TFR2) inactivated by a homozygous nonsense mutation (Y250X)...
  6. ncbi Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload
    E H Barton
    Immunogenetics Program, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Blood Cells Mol Dis 27:279-84. 2001
    ....
  7. pmc Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis
    Robert E Fleming
    Department of Pediatrics, Saint Louis University School of Medicine, MO 63104, USA
    Proc Natl Acad Sci U S A 99:10653-8. 2002
    ..This study confirms the important role for TFR2 in iron homeostasis and provides a tool for investigating the excess iron absorption and abnormal iron distribution in iron-overload disorders...
  8. ncbi Regulation of transferrin receptor 2 protein levels by transferrin
    Aeisha Robb
    Harvard School of Public Health, Department of Genetics and Complex Diseases, 665 Huntington Ave, Boston, MA 02115, USA
    Blood 104:4294-9. 2004
    b>Transferrin receptor 2 (TfR2) plays a critical role in iron homeostasis because patients carrying disabling mutations in the TFR2 gene suffer from hemochromatosis...
  9. ncbi Diferric transferrin regulates transferrin receptor 2 protein stability
    Martha B Johnson
    Department of Biochemistry, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA
    Blood 104:4287-93. 2004
    b>Transferrin receptor 2 (TfR2) is a type 2 transmembrane protein expressed in hepatocytes that binds iron-bound transferrin (Tf)...
  10. ncbi Hepcidin is decreased in TFR2 hemochromatosis
    Elizabeta Nemeth
    Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Blood 105:1803-6. 2005
    ..The relationship between the hemochromatosis due to transferrin receptor 2 (TFR2) mutations and hepcidin was unknown...
  11. ncbi H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?
    Carles de Diego
    Department of Genetics, Hospital Virgen de la Salud, Toledo, Spain
    Eur J Haematol 78:66-71. 2007
    ..Homozygosity for the H63D mutation is associated with increased transferrin saturation (TS) and ferritin levels. Our objective was to find out if the homozygosity of H63D mutation was the primary cause of iron overload...
  12. pmc Transferrin receptor 2: evidence for ligand-induced stabilization and redirection to a recycling pathway
    Martha B Johnson
    Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, OR 97239, USA
    Mol Biol Cell 18:743-54. 2007
    b>Transferrin receptor 2 (TfR2) is a homologue of transferrin receptor 1 (TfR1), the protein that delivers iron to cells through receptor-mediated endocytosis of diferric transferrin (Fe(2)Tf)...
  13. ncbi The Cytoplasmic domain of transferrin receptor 2 dictates its stability and response to holo-transferrin in Hep3B cells
    Juxing Chen
    Department of Cell and Developmental Biology, Oregon Health and Science University, Portland, Oregon 97239, USA
    J Biol Chem 282:6201-9. 2007
    b>Transferrin receptor 2 (TfR2) is a homolog of transferrin receptor 1 (TfR1), the receptor responsible for the uptake of iron-loaded transferrin (holo-Tf) into cells. Unlike the ubiquitous TfR1, TfR2 is predominantly expressed in the liver...
  14. ncbi Transferrin receptor 2 mediates uptake of transferrin-bound and non-transferrin-bound iron
    Ross M Graham
    School of Medicine and Pharmacology, The University of Western Australia, Fremantle Hospital, P O Box 480, Fremantle, WA 6959, Australia
    J Hepatol 48:327-34. 2008
    b>Transferrin receptor 2 appears to have dual roles in iron metabolism; one is signalling, the other is iron transport. It is sensitive to high levels of diferric transferrin, which is associated with disorders of iron overload...
  15. doi The role of transferrin receptor 1 and 2 in transferrin-bound iron uptake in human hepatoma cells
    Carly E Herbison
    The Univ of Western Australia, Fremantle Hospital, Australia
    Am J Physiol Cell Physiol 297:C1567-75. 2009
    ..This shows for the first time that TFR-mediated TBI uptake is mediated primarily via TFR1 but not TFR2 and that a high-capacity TFR-independent pathway exists in hepatoma cells...
  16. ncbi Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing
    Tapasree Goswami
    Harvard Medical School, Children s Hospital Boston, Division of Hematology Oncology and Howard Hughes Medical Institute, Boston, Massachusetts 02115 5737, USA
    J Biol Chem 281:28494-8. 2006
    HFE and transferrin receptor 2 (TFR2) are membrane proteins integral to mammalian iron homeostasis and associated with human hereditary hemochromatosis...
  17. pmc Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression
    Junwei Gao
    Department of Cell and Developmental Biology, Oregon Health and Science University, Portland, OR 97239, USA
    Cell Metab 9:217-27. 2009
    ..The response was abolished when endogenous transferrin receptor 2 (TfR2) was suppressed or in primary hepatocytes lacking either functional TfR2 or HFE...
  18. ncbi Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis
    P Aguilar-Martinez
    Laboratory of Hematology, CHU de Montpellier, Montpellier, France
    Blood Cells Mol Dis 27:290-3. 2001
    ..Concurrently, none of the 18 hereditary hemochromatosis patients who had their TFR2 gene sequenced had any deleterious mutation. Thus, TFR2 mutations are not responsible for hemochromatosis in non-C282Y homozygous patients of our area...
  19. pmc Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis
    R E Fleming
    Department of Pediatrics, Saint Louis University School of Medicine, St Louis, MO 63104, USA
    Proc Natl Acad Sci U S A 97:2214-9. 2000
    ....
  20. ncbi Transferrin receptor gene expression and transferrin-bound iron uptake are increased during postischemic rat liver reperfusion
    Lorenza Tacchini
    Istituto di Patologia Generale, e Centro di Studio sulla Patologia Cellulare CNR, Universita di Milano, Via Mangiagalli 31, 20133 Milan, Italy
    Hepatology 36:103-11. 2002
    ..TfR-mediated entry of the metal into liver cells may represent a source of catalytically active iron, which may play a role in reperfusion damage...
  21. doi Predominantly post-transcriptional regulation of activation molecules in chronic lymphocytic leukemia: the case of transferrin receptors
    Ioanna Chiotoglou
    Laboratory of Cytogenetics and Molecular Genetics, School of Medicine, University of Thessaly, 41222 Larissa, Greece
    Blood Cells Mol Dis 41:203-9. 2008
    ..This type of control appears to be especially suited for modulation of genes implicated in proliferation of activated cells, like CLL malignant B cells...
  22. ncbi Transferrin receptor 2 is frequently expressed in human cancer cell lines
    Alessia Calzolari
    Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanita, Viale Regina Elena 299, 00161 Rome, Italy
    Blood Cells Mol Dis 39:82-91. 2007
    ..Furthermore, our studies indicate that, at least in tumor cells, TfR2 expression is modulated by iron through different biochemical mechanisms, whose molecular basis remains to be determined...
  23. pmc Transferrin-directed internalization and cycling of transferrin receptor 2
    Juxing Chen
    Department of Cell and Developmental Biology L215, Oregon Health and Science University, Portland, OR 97239, USA
    Traffic 10:1488-501. 2009
    b>Transferrin receptor 2 (TfR2) is a homologue of transferrin receptor 1 (TfR1) but has distinct functions from TfR1 in iron homeostasis...
  24. doi Combined deletion of Hfe and transferrin receptor 2 in mice leads to marked dysregulation of hepcidin and iron overload
    Daniel F Wallace
    Membrane Transport Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Hepatology 50:1992-2000. 2009
    Hepcidin is a central regulator of iron homeostasis. HFE and transferrin receptor 2 (TFR2) are mutated in adult-onset forms of hereditary hemochromatosis and regulate the expression of hepcidin in response to iron...
  25. ncbi Genotypic and phenotypic heterogeneity of African Americans with primary iron overload
    James C Barton
    Southern Iron Disorders Center, G 105, 20220 Brookwood Medical Center Drive, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 31:310-9. 2003
    ..HFE C282Y, ferroportin 744 G-->T, and common forms of heritable anemia appear to account for increased iron absorption or retention in some patients...
  26. ncbi Expression and polarized localization of the hemochromatosis gene product HFE in retinal pigment epithelium
    Pamela M Martin
    Department of Biochemistry, Medical College of Georgia, Augusta, GA 30912, USA
    Invest Ophthalmol Vis Sci 47:4238-44. 2006
    ..Expression of HFE has not been investigated in the retina. In the present study, the expression of HFE and the HFE-interacting proteins TfR1, TfR2, and beta2M were analyzed in mouse retina...
  27. ncbi [Hereditary and acquired iron overload]
    Jean Dominique de Korwin
    Service de médecine interne H, CHU de Nancy, Hopital Central, 29, Avenue du Marechal de Lattre de Tassigny, 54035 Nancy
    Nephrol Ther 2:S304-12. 2006
    ....
  28. pmc Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS study initial screening
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    Am J Hematol 83:126-32. 2008
    ..Previous H/IO reports in some participants could be explained by treatment that induced iron depletion before initial screening, misdiagnosis, or participant misunderstanding of their physician or the initial screening questionnaire...
  29. ncbi [Non-HFE-related hereditary iron overload]
    Patricia Aguilar-Martinez
    Laboratoire d Hematologie, CHU Montpellier, Hopital Saint Eloi
    Presse Med 36:1279-91. 2007
    ..Other causes of non-HFE-related hereditary iron overload are usually associated with recognizable clinical manifestations, such as anemia or neurological disorders...
  30. doi Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment
    Antonello Pietrangelo
    2nd Division of Internal Medicine and Centre for Hemochromatosis, University Hospital of Modena, Modena, Italy
    Gastroenterology 139:393-408, 408.e1-2. 2010
    ..mice, deletion of the iron hormone hepcidin and any of 8 genes that regulate its biology, including Hfe, transferrin receptor 2 (Tfr2), and hemojuvelin (Hjv) (which all sense the accumulation of iron that hepcidin corrects) or ..
  31. doi The role of Hfe in transferrin-bound iron uptake by hepatocytes
    Anita C G Chua
    School of Medicine and Pharmacology, The University of Western Australia, Fremantle Hospital, Western Australia, Australia
    Hepatology 47:1737-44. 2008
    ..Diferric transferrin increased hepatocyte Tfr2 protein expression, resulting in a small increase in transferrin but not iron uptake by the Tfr1-independent pathway...
  32. ncbi Global sequencing approach for characterizing the molecular background of hereditary iron disorders
    Severine Cunat
    Laboratory of Haematology, CHU of Montpellier, Montpellier, France
    Clin Chem 53:2060-9. 2007
    ..This study aimed to develop a rapid automated method for sequencing the main genes involved...
  33. ncbi Linkage to chromosome 1q in Greek families with juvenile hemochromatosis
    G Papanikolaou
    First Department of Medicine, University of Athens, Laikon Hospital, Greece
    Blood Cells Mol Dis 27:744-9. 2001
    ..hemochromatosis patients without HFE mutations should be evaluated for other possible types of hemochromatosis since hemochromatosis type 3 (HFE3) has a clinical appearance similar to HFE 1, and JH may have a late onset in some cases.
  34. ncbi [Iron overload disease: recent findings]
    Anna Licata
    Istituto di Clinica Medica I, Universita degli Studi di Palermo
    Ann Ital Med Int 19:145-54. 2004
    ....
  35. ncbi Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 34:226-8. 2005
    ..The occurrence of anemia and iron overload may be discordant in women heterozygous for ALAS2 mutations...
  36. ncbi Iron overload and prolonged ingestion of iron supplements: clinical features and mutation analysis of hemochromatosis-associated genes in four cases
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    Am J Hematol 81:760-7. 2006
    ..Therapeutic phlebotomy is feasible and effective, and would prevent complications of iron overload...
  37. ncbi Ultrastructural study of a tetratrichomonad species isolated from prepucial smegma of virgin bulls
    Eduardo Rubén Cobo
    Consejo Nacional de Investigaciones Cientificas y Tecnicas, CONICET, Argentina
    Vet Parasitol 117:195-211. 2003
    ..The observations presented here show the importance of the correct diagnostic when investigating samples obtained from the urogenital tract of cattle. We also suggest that this flagellate belongs to the species Tetratrichomonas buttreyi...
  38. ncbi Changes of gene expression of iron regulatory proteins during turpentine oil-induced acute-phase response in the rat
    Nadeem Sheikh
    Division of Gastroenterology and Endocrinology, Department of Internal Medicine, Georg August University, Gottingen, Germany
    Lab Invest 87:713-25. 2007
    ..Under acute-phase conditions, acute-phase cytokines (eg IL-6) may modulate the gene expression of such proteins not only in the liver but also in other organs...
  39. doi Modulation of iron-regulatory genes in human hepatocellular carcinoma and its physiological consequences
    Michelle Guet Khim Tan
    Department of Clinical Research, Singapore General Hospital, Singapore 169608
    Exp Biol Med (Maywood) 234:693-702. 2009
    ..Expression for most of the iron-regulatory genes, including hepcidin, transferrin receptor 2 (TfR2), transferrin (Tf), ceruloplasmin (Cp) and iron regulatory protein 1 (IRP1), were significantly down-..
  40. ncbi HFE gene mutations and iron status of Brazilian blood donors
    P C J L Santos
    Departamento de Analises Clinicas e Toxicologicas, Faculdade de Ciencias Farmaceuticas, Universidade de Sao Paulo, Sao Paulo, SP, Brasil
    Braz J Med Biol Res 43:107-14. 2010
    ..The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner...
  41. pmc Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5
    M D Wilson
    Department of Biology, Centre for Environmental Health, PO Box 3020, University of Victoria, Victoria, British Columbia V8W 3N5, Canada
    Nucleic Acids Res 29:1352-65. 2001
    ..Our mouse-human comparison can be viewed at http://web.uvic.ca/~bioweb/laj.html. Laj is available at http://bio.cse.psu.edu/, along with online documentation and additional examples of annotated genomic regions...
  42. ncbi Advances in understanding the molecular basis for the regulation of dietary iron absorption
    Robert E Fleming
    Saint Louis University School of Medicine, 1465 South Grand Avenue, Saint Louis, Missouri 63104, USA
    Curr Opin Gastroenterol 21:201-6. 2005
    ....
  43. doi Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G
    Norman L Sussman
    Department of Medicine, Baylor College of Medicine, Houston, Tex, USA
    Acta Haematol 120:168-73. 2008
    ..X-linked sideroblastic anemia (XLSA) is associated with iron overload and mutations in ALAS2, which encodes 5-aminolevulinate synthase. There are few reports of XLSA in persons of sub-Saharan African descent...
  44. ncbi Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 36:342-6. 2006
    ..Possible explanations for the disparate red blood cell and iron phenotypes of the proband and his family members are discussed...
  45. pmc Rapid mutation of endogenous zebrafish genes using zinc finger nucleases made by Oligomerized Pool ENgineering (OPEN)
    Jonathan E Foley
    Molecular Pathology Unit, Center for Cancer Research, and Center for Computational and Integrative Biology, Massachusetts General Hospital, Charlestown, Massachusetts, United States of America
    PLoS ONE 4:e4348. 2009
    ..The Consortium has previously used this new method (known as OPEN for Oligomerized Pool ENgineering) to generate high quality ZFN pairs that function in human and plant cells...
  46. ncbi Quantitative evaluation of expression of iron-metabolism genes in ceruloplasmin-deficient mice
    Kanji Yamamoto
    The Third Department of Medicine, Shinshu University School of Medicine, Matsumoto 390 8621, Japan
    Biochim Biophys Acta 1588:195-202. 2002
    ..This result supports the hypothesis that CP mainly acts to release iron from cells in the liver...
  47. ncbi The macrophage cell surface glyceraldehyde-3-phosphate dehydrogenase is a novel transferrin receptor
    Chaaya Iyengar Raje
    Institute of Microbial Technology, Sector 39 A, Chandigarh 160036, India
    J Biol Chem 282:3252-61. 2007
    ..Thus, we propose an entirely new avenue for investigation with respect to transferrin uptake and regulation mechanisms in macrophages...
  48. pmc Transferrin-a modulates hepcidin expression in zebrafish embryos
    Paula G Fraenkel
    Division of Hematology Oncology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA
    Blood 113:2843-50. 2009
    ..Embryos with transferrin-a or transferrin receptor 2 (TfR2) deficiency exhibited low levels of hepcidin expression, however anemia, in the absence of a defect ..
  49. pmc Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
    Santhi K Ganesh
    National Human Genome Research Institute, Division of Intramural Research, Bethesda, MD, USA
    Nat Genet 41:1191-8. 2009
    ..This study has identified new determinants of erythrocyte traits, offering insight into common variants underlying variation in erythrocyte measures...
  50. pmc Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice
    Junwei Gao
    Department of Cell and Developmental Biology, Oregon Health and Science University, Portland, OR, USA
    Blood 115:3374-81. 2010
    ..In addition, these studies show that the use of recombinant AAV vector to deliver genes is a promising approach for studying physiologic consequences of protein complexes...
  51. doi Comparison of 3 Tfr2-deficient murine models suggests distinct functions for Tfr2-alpha and Tfr2-beta isoforms in different tissues
    Antonella Roetto
    Department of Clinical and Biological Science, University of Torino, Turin, Italy
    Blood 115:3382-9. 2010
    b>Transferrin receptor 2 (TFR2) is a transmembrane protein that is mutated in hemochromatosis type 3. The TFR2 gene is transcribed in 2 main isoforms: the full-length (alpha) and a shorter form (beta)...
  52. pmc Transferrin receptor 2 is frequently and highly expressed in glioblastomas
    Alessia Calzolari
    Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanita, Rome, Italy
    Transl Oncol 3:123-34. 2010
    Under physiological conditions, transferrin receptor 2 (TfR2) is expressed in the liver and its balance is related to the cell cycle rather than to intracellular iron levels...
  53. ncbi Regulation of expression of murine transferrin receptor 2
    H Kawabata
    Division of Hematology Oncology, Department of Medicine, Burns and Allen Research Institute, Cedars Sinai Medical Center, University of California Los Angeles School of Medicine, USA
    Blood 98:1949-54. 2001
    Complementary and genomic DNA for the murine transferrin receptor 2 (TfR2) were cloned and mapped to chromosome 5...
  54. ncbi Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis
    Hiroshi Kawabata
    Division of Hematology Immunology, Cedars Sinai Medical Center, Los Angeles, CA, USA
    Blood 105:376-81. 2005
    b>Transferrin receptor 2 (TfR2) is a membrane glycoprotein that mediates cellular iron uptake from holotransferrin. Homozygous mutations of this gene cause one form of hereditary hemochromatosis in humans...
  55. pmc Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6
    Jaroslav Truksa
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 103:10289-93. 2006
    ..We investigate the role of Hfe, Tfr2 (transferrin receptor 2), and IL-6 in BMP2-, BMP4-, and BMP9-stimulated up-regulation of murine hepcidin, because these molecules, ..
  56. ncbi Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis
    Daniel F Wallace
    Membrane Transport Laboratory, The Queensland Institute of Medical Research, 300 Herston Road, Herston, Brisbane, QLD 4006, Australia
    Am J Physiol Cell Physiol 294:C383-90. 2008
    b>Transferrin receptor 2 (TfR2), a homologue of transferrin receptor 1 (TfR1), is a key molecule involved in the regulation of iron homeostasis...
  57. doi Transferrin receptor 2 is a component of the erythropoietin receptor complex and is required for efficient erythropoiesis
    Hana Forejtnikovà
    Institut Cochin, Universite Paris Descartes, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, Paris, France
    Blood 116:5357-67. 2010
    ..Taken together, our results show that TfR2 exhibits a non hepatic function as a component of the EpoR complex and is required for efficient erythropoiesis...
  58. ncbi Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism
    W Griffiths
    Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Hum Mol Genet 9:2377-82. 2000
    ..adult haemochromatosis (HFE1; OMIM 235200) and TfR2, recently implicated in a rarer form of the inherited disorder (HFE3; OMIM 604250), and the promise of candidate genes for juvenile haemochromatosis (HFE2; OMIM 602390) and neonatal ..
  59. ncbi Prevalence of HFE mutations in upper Northern Italy: study of 1132 unrelated blood donors
    R Mariani
    Clinical Medicine and Transfusion Service, San Gerardo Hospital, University of Milano Bicocca, Monza, Italy
    Dig Liver Dis 35:479-81. 2003
    ..We hypothesised a higher prevalence of C282Y in Northern than in Central and Southern Italy. We previously identified a nonsense mutation (W169X) in haemochromatosis probands originating from a Northern Italian region (Brianza)...
  60. ncbi Identification of trichomonadid protozoa from the bovine preputial cavity by polymerase chain reaction and restriction fragment length polymorphism typing
    Dawn C Hayes
    California Animal Health and Food Safety Laboratory System Davis Branch, School of Veterinary Medicine, University of California, Davis, CA 95616, USA
    J Vet Diagn Invest 15:390-4. 2003
    ..foetus. The results of this study demonstrate that PCR and RFLP analysis can be used in lieu of DNA sequencing to identify the specific trichomonadid protozoa isolated from the bovine preputial cavity...
  61. ncbi Response of antioxidant system in rats to dietary fat and physical activity
    Jyothsna Karanth
    Biochemistry and Nutrition Discipline, Defence Food Research Laboratory, Siddarthanagar, Mysore 570 011
    Indian J Physiol Pharmacol 48:446-52. 2004
    ..into 4 subgroups each according to physical activity: Two each for sedentary (HFS3, POS3) and two for swimming, HFE3 and POE3 [30 minutes a day, 6 days a week, for 3 months or HFS6, POS6, HFE6 and POE6 for 6 months...
  62. ncbi Hemochromatosis: genetic testing and clinical practice
    Heinz Zoller
    Department of Medicine, University of Cambridge, Cambridge, United Kingdom
    Clin Gastroenterol Hepatol 3:945-58. 2005
    ..Rare defects, including mutations in the transferrin receptor 2 (TFR2) gene, have also been identified in pedigrees affected with "non-HFE hemochromatosis...
  63. ncbi Structure/function overview of proteins involved in iron storage and transport
    Peter J Sargent
    Metalloprotein Research Group, Randall Research Division of Cell and Molecular Biophysics, King s College London, New Hunt s House, Guy s Campus, London SE1 1UL, UK
    Curr Med Chem 12:2683-93. 2005
    ....
  64. ncbi A compartmental model of iron regulation in the mouse
    Bert J Lao
    Department of Bioengineering, University of California, Los Angeles, CA 90095, USA
    J Theor Biol 243:542-54. 2006
    ..of hepcidin in regulating iron absorption is modeled through an inverse relationship between hepatocyte transferrin receptor 2 (TfR2) levels and the rate of iron export processes mediated by ferroportin (Fpn)...
  65. doi Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent
    R C Murugan
    Department of Medicine, Brookdale University Hospital and Medical Center, Brooklyn, NY, USA
    Clin Genet 74:88-92. 2008
    ..We conclude that homozygosity for HJV R54X accounts for his severe, early age-of-onset hemochromatosis; his phenotype was probably modified by serial phlebotomy therapy...
  66. pmc A novel transferrin/TfR2-mediated mitochondrial iron transport system is disrupted in Parkinson's disease
    Pier Giorgio Mastroberardino
    Department of Neurology, University of Pittsburgh, 3501 Fifth Avenue, Pittsburgh, PA 15260, USA
    Neurobiol Dis 34:417-31. 2009
    ..Here, we report a novel transferrin/transferrin receptor 2 (Tf/TfR2)-mediated iron transport pathway in mitochondria of SN dopamine neurons...
  67. ncbi Abnormal iron uptake and liver cancer
    Juxing Chen
    Cell and Developmental Biology, Oregon Health and Science University, Portland, OR, USA
    Cancer Biol Ther 8:1699-708. 2009
    ..This review summarizes these recent studies and briefly discusses new directions in the treatment of iron overload in HCC patients...
  68. doi Absence of binding between the human transferrin receptor and the transferrin complex of biological toxic trace element, aluminum, because of an incomplete open/closed form of the complex
    Tetsuya Sakajiri
    Department of Applied Chemistry, Faculty of Science, Tokyo University of Science, 1 3 Kagurazaka, Shinjuku, 162 8601, Tokyo, Japan
    Biol Trace Elem Res 136:279-86. 2010
    ..Consequently, it is suggested that Al(2)Tf cannot form specific ionic interresidual interactions, such as those formed by Fe(2)Tf, to bind to TfR, resulting in impossible complex formation between Al(2)Tf and TfR...
  69. ncbi [Iron deficiency and overload. Implications in oxidative stress and cardiovascular health]
    L Toxqui
    Departamento de Metabolismo y Nutricion, Instituto de Ciencia y Tecnología de Alimentos y Nutrición ICTAN, Instituto del Frio, Consejo Superior de Investigaciones Cientificas CSIC, Madrid, Spain
    Nutr Hosp 25:350-65. 2010
    ..Finally, strategies to modify dietary iron bioavailability in order to prevent iron deficiency or alleviate iron overload are suggested...
  70. ncbi The A Allele of the -576G>A polymorphism of the transferrin gene is associated with the increased risk of age-related macular degeneration in smokers
    Daniel Wysokinski
    Department of Molecular Genetics, University of Lodz, Lodz, Poland
    Tohoku J Exp Med 223:253-61. 2011
    ..between AMD and the -576G>A polymorphism of the transferrin gene or the 1892C>T polymorphism of the transferrin receptor 2 (TFR2) gene in 278 patients with AMD and 105 controls...
  71. pmc Iron regulation of hepcidin despite attenuated Smad1,5,8 signaling in mice without transferrin receptor 2 or Hfe
    Elena Corradini
    Program in Membrane Biology, Division of Nephrology, Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Gastroenterology 141:1907-14. 2011
    HFE and transferrin receptor 2 (TFR2) are each necessary for the normal relationship between body iron status and liver hepcidin expression...
  72. ncbi Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis
    Alejandro del Castillo Rueda
    Unit of Ferropathology, Deparament of Internal Medicine, Hospital General Universitario Gregorio Maranon, Madrid, Spain
    Rev Esp Enferm Dig 103:379-82. 2011
    ..In the case we present the molecular study revealed a double heterozygosity for the mutations c.187C>G (p.H63D) and c.840C>G (p.F280L) in the HFE and transferrin receptor 2 (TFR2) genes, respectively.
  73. pmc Suppressed hepcidin expression correlates with hypotransferrinemia in copper-deficient rat pups but not dams
    Margaret Broderius
    Department of Biomedical Sciences, University of Minnesota Medical School Duluth, 1035 University Drive, Duluth, MN, 55812, USA
    Genes Nutr 7:405-14. 2012
    ..studies in CuD dams failed to confirm a correlation that hepcidin expression was associated with low transferrin receptor 2 (TfR2) levels and also challenged the dogma that holotransferrin can explain the correlation with hepcidin...
  74. doi Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis
    Alejandro Del-Castillo-Rueda
    Unidad de Ferropatología, Departamento de Medicina Interna, Instituto de Investigación Sanitaria del Hospital General Universitario Gregorio Marañón, Madrid, Spain
    Gene 508:15-20. 2012
    ..Our findings show that hereditary hemochromatosis is clinically and genetically heterogeneous and that acquired factors may modify or determine the phenotype...
  75. doi Smad6 and Smad7 are co-regulated with hepcidin in mouse models of iron overload
    Maja Vujic Spasic
    Department of Pediatric Oncology, Hematology and Immunology, University Hospital of Heidelberg, Germany
    Biochim Biophys Acta 1832:76-84. 2013
    ..This suggests that additional pathways contribute to the regulation of hepcidin, Smad6 and Smad7 under these conditions which do not require Hfe...
  76. doi Association between genetic variations in TFR2 gene and coronary heart disease in Chinese: a case-control study
    Ying Shi
    aInstitute of Occupational Medicine and the Ministry of Education Key Lab of Environment and Health bDepartment of Cardiology, Union Hospital, Huazhong University of Science and Technology cDepartment of Cardiology, The People s Hospital of Guangxi Zhuang Autonomous Region, China
    J Cardiovasc Med (Hagerstown) 15:397-401. 2014
    ..Type 2 transferrin receptor (TFR2) participates in cellular iron overload and is related to cardiovascular disease. No studies investigated the associations between variants in TFR2 gene and CHD risk...
  77. doi Trasferrin receptor 2 gene regulation by microRNA 221 in SH-SY5Y cells treated with MPP⁺ as Parkinson's disease cellular model
    Roberta Asci
    CEINGE, Biotecnologie Avanzate, Naples, Italy Department of Biochemistry and Medical Biotechnologies, Federico II University of Naples, Naples, Italy
    Neurosci Res 77:121-7. 2013
    ..The inhibition of endogenous miRNA 221 also is able to regulate TFR2. These data suggest that miRNA 221 regulate TFR2 in PD model...
  78. doi Genetic and biochemical markers in patients with Alzheimer's disease support a concerted systemic iron homeostasis dysregulation
    Angela C Crespo
    Health Promotion and Prevention of Noncommunicable Diseases Department, Instituto Nacional de Saude Dr Ricardo Jorge, Lisboa, Portugal Instituto Gulbenkian de Ciência, Oeiras, Portugal
    Neurobiol Aging 35:777-85. 2014
    ..The intracellular iron accumulation would lead to a rise in oxidative damage, contributing to AD pathophysiology. ..
  79. doi Parenteral vs. oral iron: influence on hepcidin signaling pathways through analysis of Hfe/Tfr2-null mice
    Cameron J McDonald
    Membrane Transport Laboratory, QIMR Berghofer Medical Research Institute, 300 Herston Rd, Herston, Brisbane, QLD 4006, Australia
    Am J Physiol Gastrointest Liver Physiol 306:G132-9. 2014
    ..The hemochromatosis-associated proteins Hfe and transferrin receptor 2 (Tfr2) are known upstream regulators of hepcidin, although their precise roles are still unclear...
  80. doi HMGB3 characterization in gastric cancer
    Y Gong
    Gastrointestinal Department of Southern Building, PLA General Hospital, Beijing, China
    Genet Mol Res 12:6032-9. 2013
    ..This information helps to provide insight into the molecular mechanisms of HMGB3 in human gastric cancer. ..
  81. pmc CD81 promotes both the degradation of transferrin receptor 2 (TfR2) and the Tfr2-mediated maintenance of hepcidin expression
    Juxing Chen
    From the Department of Cell, Developmental and Cancer Biology, Oregon Health and Science University, Portland, Oregon 97239
    J Biol Chem 290:7841-50. 2015
    Mutations in transferrin receptor 2 (TfR2) cause a rare form of the hereditary hemochromatosis, resulting in iron overload predominantly in the liver...
  82. pmc Hepatocyte Nuclear Factor 4α Controls Iron Metabolism and Regulates Transferrin Receptor 2 in Mouse Liver
    Shunsuke Matsuo
    From the Division of Molecular Science, Graduate School of Science and Technology, Gunma University, Kiryu, Gunma 376 8515, Japan
    J Biol Chem 290:30855-65. 2015
    ..Notably, the expression of transferrin receptor 2 (Tfr2) mRNA was markedly decreased in Hnf4a(ΔH) mice...
  83. doi The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data
    Daniel F Wallace
    Membrane Transport Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, Australia
    Genet Med 18:618-26. 2016
    ..There are no prevalence data for atypical forms of HH caused by mutations in HFE2, HAMP, TFR2, or SLC40A1. The purpose of this study was to estimate the population prevalence of these non-HFE forms of HH...
  84. doi Inclusion of ancient Latin-American crops in bread formulation improves intestinal iron absorption and modulates inflammatory markers
    José Moisés Laparra
    Instituto de Agroquímica y Tecnología de Alimentos IATA, Consejo Superior de Investigaciones Cientificas CSIC, Av Agustin Escardino 7, Parque Cientifico, 46980 Paterna Valencia, Spain
    Food Funct 7:1096-102. 2016
    ..Feeding the different bread formulations did not increase hepcidin levels, but down-regulated transferrin receptor 2 (TfR2) (apart from WWB) and IL-6 (apart from QB) expression levels...
  85. doi Recombinant human erythropoietin-induced erythropoiesis regulates hepcidin expression over iron status in the rat
    Sandra Ribeiro
    Research Unit on Applied Molecular Biosciences UCIBIO, REQUIMTE, Department of Biological Sciences, Laboratory of Biochemistry, Faculty of Pharmacy, University of Porto, Porto, Portugal
    Blood Cells Mol Dis 59:63-70. 2016
    ....
  86. doi Characterization of hepcidin response to holotransferrin in novel recombinant TfR1 HepG2 cells
    Kosha Mehta
    Department of Biomedical Sciences, University of Westminster, London, UK
    Blood Cells Mol Dis 61:37-45. 2016
    ..Furthermore, TFR2 expression altered within 4h of treatment, while HFE expression altered later at 24h and 48h, suggesting that TFR2 may function prior to HFE in HAMP regulation. ..
  87. pmc Pooled analysis of iron-related genes in Parkinson's disease: association with transferrin
    Shannon L Rhodes
    Department of Epidemiology, UCLA Fielding School of Public Health, 650 Charles E Young Drive S, Los Angeles, CA 90095 1772, USA Electronic address
    Neurobiol Dis 62:172-8. 2014
    ..02) between PD and a haplotype composed of the G allele at rs10247962 and the A allele at rs4434553 in transferrin receptor 2 (TFR2; GeneID: 7036)...
  88. ncbi Absence of hepcidin gene mutations in 10 Italian patients with primary iron overload
    Silvia Majore
    Haematologica 87:221-2. 2002
    ..The sequencing of the whole hepcidin coding region, intron-exon junctions, 5' and partially 3'UTRs, did not reveal any alteration in the studied patients...
  89. ncbi The iron metabolism of neoplastic cells: alterations that facilitate proliferation?
    Juliana C Kwok
    The Iron Metabolism and Chelation Group, The Heart Research Institute, 145 Missenden Road, Camperdown, Sydney, NSW 2050, Australia
    Crit Rev Oncol Hematol 42:65-78. 2002
    ..These molecules include transferrin (Tf), the oestrogen-inducible transferrin receptor-like protein, transferrin receptor 2 (TfR2), melanotransferrin (MTf), ceruloplasmin, and ferritin...
  90. ncbi Juvenile hemochromatosis in a Spanish family
    Marco Montes-Cano
    Servicio de Inmunologia, Servicio Andaluz de Salud, Sevilla, Spain
    Blood Cells Mol Dis 28:297-300. 2002
    ..The only brother with heavy iron deposits in hepatocytes was found to be heterozygous for the JH-associated region and homozygous for the HFE187 gene, suggesting a synergistic effect between both hemochromatosis-associated genes...
  91. ncbi Iron uptake by melanoma cells from the soluble form of the transferrin homologue, melanotransferrin
    Michael R Food
    The Heart Research Institute, The Iron Metabolism and Chelation Group, Camperdown, Sydney, New South Wales, Australia
    Redox Rep 7:279-82. 2002
    ..Indeed, the uptake of sMTf by cells occurred via a non-specific process (e.g. adsorptive pinocytosis)...
  92. ncbi The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities
    Patricia Aguilar-Martinez
    Laboratory of Hematology, Montpellier University Hospital, 34295 Montpellier Cedex 5, France
    Am J Gastroenterol 100:1185-94. 2005
    ..The proposed strategic approach may change with the identification of other genes involved in iron metabolism...
  93. ncbi Opioid receptor binding and antinociceptive activity of the analogues of endomorphin-2 and morphiceptin with phenylalanine mimics in the position 3 or 4
    Yanfeng Gao
    Department of Biochemistry and Molecular Biology, School of Life Sciences, Lanzhou University, Lanzhou 730000, China
    Bioorg Med Chem Lett 16:3688-92. 2006
    ..Opioid receptor binding affinities were determined. Two analogues, [Hfe3]EM-2 and [Phg4] (EM-2/morphiceptin), showed different but potent antinociceptive activity in mouse hot-plate test, ..
  94. ncbi Genetic background of primary iron overload syndromes in Japan
    Hisao Hayashi
    Department of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya
    Intern Med 45:1107-11. 2006
    ..In conclusion, the genetic backgrounds of Japanese patients with primary iron overload syndromes were partially clarified, showing some phenotype-genotype correlations...
  95. pmc A novel transferrin receptor-targeted hybrid peptide disintegrates cancer cell membrane to induce rapid killing of cancer cells
    Megumi Kawamoto
    Department of Pharmacoepidemiology, Graduate School of Medicine and Public Health, Kyoto University, Kyoto, Japan
    BMC Cancer 11:359. 2011
    ..In this study, we designed TfR binding peptide connected with this novel lytic peptide and assessed the cytotoxic activity in vitro and in vivo...
  96. pmc Hereditary hemochromatosis and transferrin receptor 2
    Juxing Chen
    Department of Cell and Developmental Biology L215, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA
    Biochim Biophys Acta 1820:256-63. 2012
    ..The identification of the mutations that cause the iron overload disease, hereditary hemochromatosis (HH), or iron-refractory iron-deficiency anemia has revealed many of the proteins used to regulate iron uptake...
  97. pmc Severe microcytic anemia but increased erythropoiesis in mice lacking Hfe or Tfr2 and Tmprss6
    Pauline Lee
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA, USA
    Blood Cells Mol Dis 48:173-8. 2012
    ..Furthermore, repression of hepcidin expression by hypoxia was unaffected by the loss of functional Hfe, Tfr2 and Tmprss6...
  98. doi TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia
    Peng An
    Key Laboratory of Nutrition and Metabolism, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Graduate School of the Chinese Academy of Sciences, Shanghai 200031, China
    Hum Mol Genet 21:2124-31. 2012
    ..Our findings suggest that TF, TFR2 and TMPRSS6 polymorphisms are significantly associated with decreased iron status, but only variants in TMPRSS6 are genetic risk factors for iron deficiency and IDA...
  99. doi Disruption of hemochromatosis protein and transferrin receptor 2 causes iron-induced liver injury in mice
    Roheeth D Delima
    School of Medicine and Pharmacology, Fremantle Hospital, University of Western Australia, Fremantle, Western Australia, Australia
    Hepatology 56:585-93. 2012
    Mutations in hemochromatosis protein (HFE) or transferrin receptor 2 (TFR2) cause hereditary hemochromatosis (HH) by impeding production of the liver iron-regulatory hormone, hepcidin (HAMP)...
  100. doi Genetic polymorphisms in bovine transferrin receptor 2 (TFR2) and solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1) genes and their association with beef iron content
    Q Duan
    Department of Biochemistry, Biophysics and Molecular Biology, Iowa State University, Ames, IA 50011, USA
    Anim Genet 43:115-22. 2012
    ..We hypothesized that genetic polymorphisms in transferrin receptor 2 (TFR2) and solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1) could influence ..
  101. pmc Molecular diagnostic and pathogenesis of hereditary hemochromatosis
    Paulo C J L Santos
    Laboratory of Genetics and Molecular Cardiology, Heart Institute InCor, University of Sao Paulo Medical School, SP, 05403 000, Brazil E Mails J E K A C P
    Int J Mol Sci 13:1497-511. 2012
    ..In addition to HFE gene, mutations in the genes that encode hemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin (SLC40A1) have been associated with regulation of iron homeostasis and development ..

Research Grants10

  1. Role of Transferrin Receptor 2 in Iron Homeostasis
    Robert Fleming; Fiscal Year: 2007
    ..This knowledge will increase our understanding of iron homeostasis, and may suggest new approaches to the management of diseases of iron overload and maldistribution. ..
  2. CAROLINE ENNS; Fiscal Year: 2016
    ..Transferrin is the major iron transport protein in the blood. Mutations in transferrin receptor 2 (TfR2), which is predominantly expressed in hepatocytes and erythrocyte precursors result in HH...
  3. Hemochromatosis - Epidemiology and Molecular Mechanisms
    Pauline L Lee; Fiscal Year: 2010
    ....
  4. BMP Signaling and Iron Metabolism
    Jodie L Babitt; Fiscal Year: 2010
    ..It is hoped that this work will provide clues leading to new treatment strategies for disorders of iron overload such as hemochromatosis and disorders of iron deficiency such as anemia of chronic disease. ..
  5. Stefano Rivella; Fiscal Year: 2015
    ..Recently HFE and transferrin receptor 2 (TfR2), molecules known to participate in the hepatic regulation of hepcidin, have been found to be also ..
  6. Mitochondrial Proteins in Parkinson's Disease
    J Timothy Greenamyre; Fiscal Year: 2013
    ....
  7. GATA2 as a therapeutic target in Parkinson's disease
    MAX PARVEN HOROWITZ; Fiscal Year: 2013
    ..We have identified a transferrin/transferrin receptor 2 (TfR2)-mediated mechanism for iron accumulation in nigral dopamine neurons, and have found that TfR2 ..
  8. Genomic Instability and Senescence in Cancer
    Lynne Elmore; Fiscal Year: 2009
    ..abstract_text> ..
  9. IRON TRANSPORT IN A MURINE MODEL OF HEMOCHROMATOSIS
    Robert Fleming; Fiscal Year: 2004
    ..We hope the findings suggest novel approaches to prevent iron loading in HH and other diseases with excess dietary iron absorption. ..
  10. Genetic Analysis of Iron Homeostasis in Zebrafish
    Paula Fraenkel; Fiscal Year: 2006
    ..These novel genes may become molecular targets for the treatment of iron overload conditions, such as hereditary hemochromatosis. ..