Ask about this productRelated genes to: TFR2 Blocking Peptide
- Gene:
- TFR2 NIH gene
- Name:
- transferrin receptor 2
- Previous symbol:
- -
- Synonyms:
- HFE3, TFRC2
- Chromosome:
- 7q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 1998-06-03
- Date modifiied:
- 2017-05-05
Related products to: TFR2 Blocking Peptide
Related articles to: TFR2 Blocking Peptide
- Haemochromatosis is a genetic disorder of iron homeostasis. It can be caused by mutations in genes encoding the iron-regulatory hormone hepcidin (HAMP), and/or genes that regulate hepcidin expression (HFE, HJV, TFR2), or a gain-of-function mutation in the gene encoding hepcidin receptor ferroportin (FPN1/SLC40A1). HFE-related haemochromatosis is prevalent predominantly in individuals of northern European descent. These mutations result in dysregulated levels or activity of hepcidin, leading to high iron-saturation of transferrin followed by progressive liver iron accumulation in the absence of anaemia. To enable and enhance the understanding of haemochromatosis in both researchers and prospective medics, this review collates and discusses the genetic basis and consequent pathophysiology of the different types of haemochromatosis within a single, comparative review. The discussion is supported by figures and a summary table that compares the haemochromatosis types for prevalence, clinical manifestations, primary organs affected, iron-related biochemical parameters and mechanisms of iron loading. Also, gain-of-function ferroportin mutation is compared to ferroportin disease, which is a loss-of-function ferroportin mutation, and shows a tendency to anaemia. Essentially, HFE-related haemochromatosis (common type) and TFR2-related haemochromatosis (rare type) show late-onset, milder and gradual iron loading, and often involve liver and joint damage. In contrast, HJV- and HAMP-related haemochromatosis (rare types) show severe and rapid iron loading in the first three decades of life, with notable cardiac and endocrine complications. Hepcidin levels are more markedly decreased in HJV-related haemochromatosis compared to HFE and TFR2 types. There are minimal to absent levels of hepcidin in HAMP-related haemochromatosis. - Source: PubMed
Publication date: 2026/03/25
Srinivasamurthy PragnyaMehta Kosha J
- Source: PubMed
- To investigate whether the novel proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor Inclisiran exerts protective effects on the kidneys under high-glucose conditions, and to predict whether its mechanism involves the transforming growth factor-β (TGF-β) pathway using proteomic techniques, while constructing its regulatory network. - Source: PubMed
Li HongqianChen BoXiang XinQi LingZhang DongmeiTang YuhanZhang LilingOu SantaoXue LingWu Weihua - To explore whether Soufeng Yuchuan (, SFYC) formula alleviates asthma by promoting ferroptosis of airway epithelial cells. - Source: PubMed
Mumu WeiXiaoyu YanYujing ZhangXinxin ZhangYongbin Yan - Liver iron overload, a contributing factor to liver damage, is frequently observed in advanced alcoholic liver disease (ALD). Genetic factors may influence the progression of ALD. This study explored the involvement of hemochromatosis-related genes in liver iron deposition among ALD patients. Clinical data from 97 ALD patients revealed that those with liver iron overload had worse liver function and prognosis. Among 43 patients who underwent exon sequencing of the HFE, HJV, HAMP, TFR2, and SLC40A1 genes, the TFR2 p.A75V mutation emerged as a potential contributor to iron overload. To further investigate, we developed a novel mouse model of ALD with liver iron overload. Administration of recombinant AAV carrying the wild-type TFR2 gene significantly reduced iron deposition in hepatocytes, whereas the TFR2 p.A75V mutation did not alleviate hepatic iron overload. This mutation impairs HAMP induction by disrupting the ERK pathway, likely due to abnormal cytoplasmic localization of the TFR2 protein. In conclusion, the TFR2 p.A75V mutation in ALD may decrease hepatocyte sensitivity to iron stimulation by inhibiting HAMP expression via the ERK pathway, thereby exacerbating iron overload both in vivo and in vitro. KEY MESSAGES: The study identifies the TFR2 p.A75V mutation as a key genetic factor worsening liver iron overload in ALD patients, linked to poorer liver function and prognosis. A novel ALD mouse model with iron overload demonstrates that the TFR2 p.A75V mutation impairs iron regulation. TFR2 p.A75V mutant disturbs the ERK pathway in HAMP induction and causes abnormal cytoplasmic localization of the TFR2 Protein. - Source: PubMed
Publication date: 2026/02/12
Xie ChaoLiu YingyingWang XiaofanHuang LongWang XiaomingZhang WeiWu LinaLiu TianhuiWang PingLiu LinFan XuJia JidongOu XiaojuanXu AnjianCong Min