TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: Hemochromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE 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 in people with haemochromatosis that maps to HFE3. 10802645 2000
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE The identification of HFE, the principal determinant of 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 haemochromatosis (OMIM 231100) provide the foundation for important studies into the control mechanism of iron balance in humans. 11005792 2000
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE TfR2 has a pattern of expression and regulation that is distinct from TfR, and mutations in TfR2 have been recognized as the cause of a non-HFE linked form of hemochromatosis (Camaschella, C., Roetto, A., Cali, A., De Gobbi, M., Garozzo, G., Carella, M., Majorano, N., Totaro, A., and Gasparini, P. (2000) Nat.Genet.25, 14-15). 11027676 2000
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Recently, a mutation in the gene encoding transferrin receptor-2 (exon 6, nucleotide 750 C --> G; Y250X) was detected by a PCR-restriction fragment length polymorphism (RFLP) method in Sicilians with hemochromatosis. 11551099 2001
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE A mutation of the transferrin receptor-2 gene (TFR2; exon 6, nt 750 C --> G, replaces TAC with stop signal TAG; Y250X) on Ch7q22 was recently identified in two Sicilian families with HFE mutation-negative hemochromatosis. 11358388 2001
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Thus, TFR2 mutations are not responsible for hemochromatosis in non-C282Y homozygous patients of our area. 11358390 2001
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE Recently, two new types of hemochromatosis have been identified: Juvenile hemochromatosis (JH or HFE2), which maps to chromosome 1q21, and an adult form defined as HFE 3, which results from mutations of the TFR 2 gene, located at 7q22. 11778658 2002
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE In particular, the identification of the haemochromatosis gene (HFE) and more recently the transferrin receptor 2 gene (TfR2) together with the specific mutations in these genes which result in hepatic iron overload, has enhanced our understanding of the pathophysiology of haemochromatosis. 11886477 2002
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease LHGDN Recently a second transferrin receptor (TFR2) was discovered, and a previously uncharacterized type of hemochromatosis (HH type 3) was identified in humans carrying mutations in the TFR2 gene. 12134060 2002
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE The pathogenetic role of TFR2 in hemochromatosis has been recently further demonstrated through the targeted expression of the Y250X human mutation in mice, which develop sings of iron overload identical to the human disease. 12547237 2003
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE No individual presented either the mutation at position 845 of the HFE gene or at position 750 of the TFR2 gene, associated with other types of hemochromatosis. 12064925 2003
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE Taking advantage of the collection of 178 DNA samples selected for increased transferrin saturation (>50% in males and >45% in females) from a previous large scale screening of Italian blood donors, we simultaneously assessed the presence of 14 hemochromatosis-associated molecular defects (11 of HFE and 3 of TFR2) by a reverse hybridization-based strip assay. 12681966 2003
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Mutations in TfR2 result in hemochromatosis, indicating that this receptor has a unique role in iron metabolism. 15317665 2004
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE The implications of this observation for the understanding of the phenotypic features of haemochromatosis due to mutation of the TFR2 gene are discussed. 15084147 2004
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Transferrin receptor 2 (TfR2) plays a critical role in iron homeostasis because patients carrying disabling mutations in the TFR2 gene suffer from hemochromatosis. 15319276 2004
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE The genetics of these less common forms was intensively studied between 2000 and 2004, leading to the recognition of haemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin-related haemochromatosis, and opening the way for novel hypotheses such as those related to digenic modes of inheritance or the involvement of modifier genes. 16132052 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE This suggests that the TfR2 gene is involved in hemochromatosis in Japanese patients. 15749661 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE Using quantitative RT-PCR, the iron-dependent hepatic expression patterns of HAMP, HJV, and TFR2 were evaluated in human and murine HFE-related hemochromatosis. 16103673 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Rare defects, including mutations in the transferrin receptor 2 (TFR2) gene, have also been identified in pedigrees affected with "non-HFE hemochromatosis." 16234038 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease LHGDN This suggests that the TfR2 gene is involved in hemochromatosis in Japanese patients. 15749661 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE The relationship between the hemochromatosis due to transferrin receptor 2 (TFR2) mutations and hepcidin was unknown. 15486069 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE Four genes are responsible for the distinct types of non-HFE haemochromatosis: hepcidin and hemojuvelin are the genes involved in type 2 or juvenile haemochromatosis, transferrin receptor 2 is involved in type 3 haemochromatosis, and ferroportin 1 is mutated in type 4, the atypical dominant form of primary iron overload. 15737887 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease LHGDN The relationship between the hemochromatosis due to transferrin receptor 2 (TFR2) mutations and hepcidin was unknown. 15486069 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE At least three of these entities (HFE hemochromatosis, juvenile hemochromatosis and transferrin receptor 2 hemochromatosis) involve systemic hepcidin deficiency as a key pathogenetic factor. 17124037 2006
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE We conclude that this patient represents another example of hemochromatosis due to mutations of the gene encoding transferrin receptor 2. 16424658 2006