The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

Hfe2  -  hemochromatosis type 2 (juvenile) (human...

Mus musculus

Synonyms: 2310035L15Rik, 5230400G09Rik, AI414844, AI789733, DL-M, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Hfe2


High impact information on Hfe2

  • Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload [3].
  • Recently, it has been suggested that hepcidin, a peptide involved in iron homeostasis, is regulated by bone morphogenetic proteins (BMPs), apparently by binding to hemojuvelin (Hjv) as a coreceptor and signaling through Smad4 [4].
  • Hamp regulation due to iron did not appear dependent on transcription-level changes of the murine homolog of Hemojuvelin (Rgmc) [5].
  • HJV is highly expressed in both skeletal muscle and liver [6].
  • RESULTS: Iron initially accumulated in spleen macrophages but with subsequent increase in macrophage ferroportin and ferritin expression its content in the spleen decreased while a progressive storage of iron occurred within hepatocytes which was paralleled by a significant increase in hepcidin and hemojuvelin expression [7].

Anatomical context of Hfe2

  • INTERPRETATION AND CONCLUSIONS: The facts that HJV protein is expressed in the liver and mutations in the HJV gene induce hepatic iron accumulation point to a possibility that HJV protein may modulate iron transport in hepatocytes [8].
  • RESULTS: Human HJV mRNA expression was detected in the liver, heart, esophagus, pancreas, descending colon, ileocecum and skeletal muscle [8].

Other interactions of Hfe2


Analytical, diagnostic and therapeutic context of Hfe2


  1. Expression studies of neogenin and its ligand hemojuvelin in mouse tissues. Rodriguez, A., Pan, P., Parkkila, S. J. Histochem. Cytochem. (2007) [Pubmed]
  2. Evidence that inhibition of hemojuvelin shedding in response to iron is mediated through neogenin. Zhang, A.S., Anderson, S.A., Meyers, K.R., Hernandez, C., Eisenstein, R.S., Enns, C.A. J. Biol. Chem. (2007) [Pubmed]
  3. Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload. Niederkofler, V., Salie, R., Arber, S. J. Clin. Invest. (2005) [Pubmed]
  4. Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6. Truksa, J., Peng, H., Lee, P., Beutler, E. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  5. The molecular circuitry regulating the switch between iron deficiency and overload in mice. Mok, H., Mlodnicka, A.E., Hentze, M.W., Muckenthaler, M., Schumacher, A. J. Biol. Chem. (2006) [Pubmed]
  6. Interaction of hemojuvelin with neogenin results in iron accumulation in human embryonic kidney 293 cells. Zhang, A.S., West, A.P., Wyman, A.E., Bjorkman, P.J., Enns, C.A. J. Biol. Chem. (2005) [Pubmed]
  7. Pathways for the regulation of body iron homeostasis in response to experimental iron overload. Theurl, I., Ludwiczek, S., Eller, P., Seifert, M., Artner, E., Brunner, P., Weiss, G. J. Hepatol. (2005) [Pubmed]
  8. Hepatic and extrahepatic expression of the new iron regulatory protein hemojuvelin. Rodriguez Martinez, A., Niemelä, O., Parkkila, S. Haematologica (2004) [Pubmed]
  9. Hepatic expression of hemochromatosis genes in two mouse strains after phlebotomy and iron overload. Bondi, A., Valentino, P., Daraio, F., Porporato, P., Gramaglia, E., Carturan, S., Gottardi, E., Camaschella, C., Roetto, A. Haematologica (2005) [Pubmed]
WikiGenes - Universities