GeneID: 178



Names

Common Name: TFR2 Type: Gene
Chromosome: 7 (NC_000007.14) Locus: NG_007989.1 (TFR2)
HUGO Symbol: TFR2 Full Name: transferrin receptor 2
Exons: 18 Introns: 17

Description:
This gene encodes transferrin receptor 2 (TFR2), a type II transmembrane glycoprotein with a key function in systemic iron homeostasis. Plasma iron is captured by transferrin and delivered to cells via receptor-mediated endocytosis. TFR2 is predominantly expressed in hepatocytes, as well as erythroid precursors. TFR2 operates as a sensor of circulating iron and signals the activation of hepcidin in response to increased transferrin saturation. TFR2 is proposed to act in conjuction with hemochromatosis protein (HFE) and hemojuvelin (HJV; a bone morphogenetic protein (BMP) co-receptor). Hepcidin modulates the expression of iron-related transporters (e.g.: ferroportin), thereby limiting the entry of iron into the circulation. Two isoforms have been described for this gene. The alpha isoform corresponds to all 18 exons, while the beta isoform results from alternative splicing and lacks exons 1-3. The alpha isoform consists of a cytoplasmic domain with a YXXφ-based motif for clathrin-mediated endocytosis, a transmembrane domain and a large extracellular region containing a protease-associated domain and two RGD motifs that bind iron-loaded transferrin. The beta isoform lacking the cytoplasmic and transmembrane domains has an unknown function. TFR2 is involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations of TFR2 lead to hemochromatosis type 3.

Synonyms: HFE3 , TFRC2

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Silvestri L, Nai A, Pagani A, Camaschella C, The extrahepatic role of TFR2 in iron homeostasis., Front Pharmacol , 5(0), 93, 2014 PubMed
  2. Worthen CA, Enns CA, The role of hepatic transferrin receptor 2 in the regulation of iron homeostasis in the body., Front Pharmacol , 5(0), 34, 2014 PubMed
  3. Pantopoulos K, TfR2 links iron metabolism and erythropoiesis., Blood , 125(7), 1055-6, 2015 PubMed
Created on 2016-10-06 09:24:45, Last reviewed on (Show full history)


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