Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
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
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
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
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
0.400 Biomarker disease BEFREE TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood. 28276324 2017
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
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
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
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
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
0.400 GeneticVariation disease BEFREE Five major categories are now established: HFE-related or type1 hemochromatosis, frequently found in Caucasians, and four rarer diseases which are type 2 (A and B) hemochromatosis (juvenile hemochromatosis), type 3 hemochromatosis (transferrin receptor 2 hemochromatosis), type 4 (A and B) hemochromatosis (ferroportin disease), and a(hypo)ceruloplasminemia. 18430498 2008
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
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
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
0.400 Biomarker disease BEFREE Hepcidin deficiency underlies iron overload in HFE-hemochromatosis as well as in several other genetic iron excess disorders, such as hemojuvelin or hepcidin-related hemochromatosis and transferrin receptor 2-related hemochromatosis. 21862411 2011
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
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
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
0.400 GeneticVariation disease BEFREE Human hemochromatosis (HC) has been associated with the common C282Y polymorphism of HFE or rare pathogenic mutations of TfR2, HJV, FPN and HAMP. 20863724 2010
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
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
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
0.400 AlteredExpression disease BEFREE Individuals with pathogenic mutations in HFE, hemojuvelin (HJV) and transferrin receptor 2 (TfR2) have low levels of hepcidin, but little is known about the hepatic expression of these molecules in patients with physiological iron overload or HFE associated Hemochromatosis (HH). 17098454 2007
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
0.400 Biomarker disease CTD_human Iron absorption and hepatic iron uptake are increased in a transferrin receptor 2 (Y245X) mutant mouse model of hemochromatosis type 3. 16935854 2007
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
0.400 GeneticVariation disease BEFREE Mutations in TfR2 result in hemochromatosis, indicating that this receptor has a unique role in iron metabolism. 15317665 2004
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
0.400 Biomarker disease BEFREE Mutations in hepcidin and any genes that regulate the biology of hepcidin, including hemochromatosis genes (HFE), Hemojuvelin (HJV), transferring receptor 2 (TFR2) and FPN, result in hemochromatosis. 27031690 2016
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
0.400 GeneticVariation disease BEFREE Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis. 21770687 2011
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
0.400 GeneticVariation disease BEFREE Mutations in the Hjv and TfR2 gene cause hemochromatosis. 16932966 2007
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
0.400 Biomarker disease CTD_human Mutations of TfR2 in humans cause type 3 hereditary hemochromatosis. 17241880 2007
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
0.400 GeneticVariation disease BEFREE New TFR2 mutations in young Italian patients with hemochromatosis. 18245657 2008
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
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
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
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
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
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
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
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
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
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
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
0.400 GeneticVariation disease BEFREE SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis. 25352340 2014