Gene Symbol: Hfe2
Description: hemochromatosis type 2 (juvenile)
Alias: 2310035L15Rik, 5230400G09Rik, AI414844, AI789733, DL-M, HJV, Rgmc, hemojuvelin, hemojuvelin, RGM domain family member C, hemochromatosis type 2 (juvenile) (human homolog), hemochromatosis type 2 protein homolog, repulsive guidance molecule C
Species: mouse
Products:     Hfe2

Top Publications

  1. Papanikolaou G, Samuels M, Ludwig E, MacDonald M, Franchini P, Dube M, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. 2004;36:77-82 pubmed
    ..a transcription unit of previously unknown function (LOC148738), now called HFE2, whose protein product we call hemojuvelin. Analysis of Greek, Canadian and French families indicated that one mutation, the amino acid substitution G320V,..
  2. Zhang A, Gao J, Koeberl D, Enns C. The role of hepatocyte hemojuvelin in the regulation of bone morphogenic protein-6 and hepcidin expression in vivo. J Biol Chem. 2010;285:16416-23 pubmed publisher
    Both hemojuvelin (HJV) and bone morphogenic protein-6 (BMP6) are essential for hepcidin expression. Hepcidin is the key peptide hormone in iron homeostasis, and is secreted predominantly by hepatocytes...
  3. Truksa J, Gelbart T, Peng H, Beutler E, Beutler B, Lee P. Suppression of the hepcidin-encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase-2/TMPRSS6. Br J Haematol. 2009;147:571-81 pubmed publisher
    ..Iron excess is regulated through a pathway involving the cell surface receptor hemojuvelin (HFE2) that stimulates expression of the hepcidin encoding gene (HAMP)...
  4. Krijt J, Fujikura Y, Sefc L, Vokurka M, Hlobenová T, Necas E. Hepcidin downregulation by repeated bleeding is not mediated by soluble hemojuvelin. Physiol Res. 2010;59:53-9 pubmed
    Hepcidin is a key regulator of iron homeostasis, while hemojuvelin is an important component of the hepcidin regulation pathway...
  5. Constante M, Wang D, Raymond V, Bilodeau M, Santos M. Repression of repulsive guidance molecule C during inflammation is independent of Hfe and involves tumor necrosis factor-alpha. Am J Pathol. 2007;170:497-504 pubmed
    ..In mice, repulsive guidance molecule c (Rgmc, the hemojuvelin mouse ortholog) and hepcidin levels are transcriptionally regulated during ..
  6. Gkouvatsos K, Fillebeen C, Daba A, Wagner J, Sebastiani G, Pantopoulos K. Iron-dependent regulation of hepcidin in Hjv-/- mice: evidence that hemojuvelin is dispensable for sensing body iron levels. PLoS ONE. 2014;9:e85530 pubmed publisher
    b>Hemojuvelin (Hjv) is a bone morphogenetic protein (BMP) co-receptor involved in the control of systemic iron homeostasis...
  7. Silvestri L, Pagani A, Camaschella C. Furin-mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis. Blood. 2008;111:924-31 pubmed
    The liver peptide hepcidin regulates iron absorption and recycling. Hemojuvelin (HJV) has a key role in hepcidin regulation, and its inactivation causes severe iron overload both in humans and in mice...
  8. Lin L, Nemeth E, Goodnough J, Thapa D, Gabayan V, Ganz T. Soluble hemojuvelin is released by proprotein convertase-mediated cleavage at a conserved polybasic RNRR site. Blood Cells Mol Dis. 2008;40:122-31 pubmed
    ..The GPI-linked membrane protein hemojuvelin (GPI-hemojuvelin) is an essential upstream regulator of hepcidin expression...
  9. Babitt J, Huang F, Wrighting D, Xia Y, Sidis Y, Samad T, et al. Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat Genet. 2006;38:531-9 pubmed
    ..Mutations in the gene encoding hemojuvelin (HFE2, also known as HJV) cause severe iron overload and correlate with low hepcidin levels, suggesting that ..

More Information


  1. Krijt J, Frýdlová J, Kukačková L, Fujikura Y, Prikryl P, Vokurka M, et al. Effect of iron overload and iron deficiency on liver hemojuvelin protein. PLoS ONE. 2012;7:e37391 pubmed publisher
    b>Hemojuvelin (Hjv) is a key component of the signaling cascade that regulates liver hepcidin (Hamp) expression. The purpose of this study was to determine Hjv protein levels in mice and rats subjected to iron overload and iron deficiency...
  2. Huang F, Pinkus J, Pinkus G, Fleming M, Andrews N. A mouse model of juvenile hemochromatosis. J Clin Invest. 2005;115:2187-91 pubmed
    ..Mutations in hemojuvelin (HJV) cause severe, early-onset juvenile hemochromatosis. The normal function of HJV is unknown...
  3. Gkouvatsos K, Wagner J, Papanikolaou G, Sebastiani G, Pantopoulos K. Conditional disruption of mouse HFE2 gene: maintenance of systemic iron homeostasis requires hepatic but not skeletal muscle hemojuvelin. Hepatology. 2011;54:1800-7 pubmed publisher
    ..HFE2 encodes hemojuvelin (Hjv), a membrane-associated bone morphogenetic protein (BMP) coreceptor that enhances expression of the liver-..
  4. Sebastiani G, Gkouvatsos K, Maffettone C, Busatto G, Guido M, Pantopoulos K. Accelerated CCl4-induced liver fibrosis in Hjv-/- mice, associated with an oxidative burst and precocious profibrogenic gene expression. PLoS ONE. 2011;6:e25138 pubmed publisher
    ..To uncover underlying molecular mechanisms, hemochromatotic hemojuvelin knockout (Hjv-/-) mice and wild type (wt) controls were intoxicated with CCl(4)...
  5. Krijt J, Fujikura Y, Ramsay A, Velasco G, Necas E. Liver hemojuvelin protein levels in mice deficient in matriptase-2 (Tmprss6). Blood Cells Mol Dis. 2011;47:133-7 pubmed publisher
    ..vitro data, it has recently been proposed that matriptase-2 decreases hepcidin synthesis by cleaving membrane hemojuvelin, a key protein of the hepcidin-regulatory pathway...
  6. Schmidtmer J, Engelkamp D. Isolation and expression pattern of three mouse homologues of chick Rgm. Gene Expr Patterns. 2004;4:105-10 pubmed
    ..The third member of the Rgm gene family, RgmC, shows exclusive expression in the muscle cell lineage...
  7. Niederkofler V, Salie R, Sigrist M, Arber S. Repulsive guidance molecule (RGM) gene function is required for neural tube closure but not retinal topography in the mouse visual system. J Neurosci. 2004;24:808-18 pubmed
    ..In contrast, mRGMa mutant mice did not exhibit defects in anteroposterior targeting of RGC axons to their stereotypic termination zones in the superior colliculus. ..
  8. Niederkofler V, Salie R, Arber S. Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload. J Clin Invest. 2005;115:2180-6 pubmed
    ..Human mutations in the glycosylphosphatidylinositol-anchored protein hemojuvelin (HJV; also known as RGMc and HFE2) cause juvenile hemochromatosis, a severe iron overload disease, but the way ..
  9. Kuninger D, Kuns Hashimoto R, Kuzmickas R, Rotwein P. Complex biosynthesis of the muscle-enriched iron regulator RGMc. J Cell Sci. 2006;119:3273-83 pubmed
    The recently discovered repulsive guidance molecule c (RGMc or hemojuvelin) gene encodes a putative glycosylphosphatidylinositol (GPI)-anchored protein that is expressed in striated muscle and in liver...
  10. Krijt J, Jonasova A, Neuwirtova R, Necas E. Effect of erythropoietin on hepcidin expression in hemojuvelin-mutant mice. Blood Cells Mol Dis. 2010;44:257-61 pubmed publisher
    ..whether the erythropoiesis-related downregulation of Hamp expression utilises the bone morphogenetic protein/hemojuvelin (Bmp/Hjv) pathway...
  11. Zhang A, West A, Wyman A, Bjorkman P, Enns C. Interaction of hemojuvelin with neogenin results in iron accumulation in human embryonic kidney 293 cells. J Biol Chem. 2005;280:33885-94 pubmed
    ..Type 2A HH is caused by mutations in the recently cloned hemojuvelin gene (HJV; also called HFE2) (Papanikolaou, G., Samuels, M. E., Ludwig, E. H., MacDonald, M. L., Franchini, P...
  12. Oldekamp J, Kramer N, Alvarez Bolado G, Skutella T. Expression pattern of the repulsive guidance molecules RGM A, B and C during mouse development. Gene Expr Patterns. 2004;4:283-8 pubmed
    ..During development, both RGM A and B appear also in lung and in limb cartilage, while RGM B has additional expression domains in pancreas. ..
  13. Krijt J, Vokurka M, Chang K, Necas E. Expression of Rgmc, the murine ortholog of hemojuvelin gene, is modulated by development and inflammation, but not by iron status or erythropoietin. Blood. 2004;104:4308-10 pubmed
    ..Using quantitative real-time polymerase chain reaction, we compared expression of Hamp and Rgmc (the murine ortholog of HJV) in livers of mice treated with iron, erythropoietin, or lipopolysaccharide (LPS), as ..
  14. Finberg K, Whittlesey R, Fleming M, Andrews N. Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Blood. 2010;115:3817-26 pubmed publisher
    ..In contrast, mice deficient for both Tmprss6 and hemojuvelin (Hjv), a BMP coreceptor that augments hepcidin expression in hepatocytes, showed markedly decreased hepatic ..
  15. Krijt J, Niederkofler V, Salie R, Sefc L, Pelichovská T, Vokurka M, et al. Effect of phlebotomy on hepcidin expression in hemojuvelin-mutant mice. Blood Cells Mol Dis. 2007;39:92-5 pubmed
    b>Hemojuvelin (Hjv) is an essential component of the pathway regulating hepcidin (Hamp1) gene expression. Mice with targeted disruption of the Hjv gene (Hjv-/- mice) fail to upregulate hepatic Hamp1 expression following iron overload...
  16. Chen W, Huang F, de Renshaw T, Andrews N. Skeletal muscle hemojuvelin is dispensable for systemic iron homeostasis. Blood. 2011;117:6319-25 pubmed publisher
    ..b>Hemojuvelin, a glycophosphatidyl inositol-linked membrane protein, acts as a bone morphogenetic protein coreceptor to ..
  17. Severyn C, Rotwein P. Conserved proximal promoter elements control repulsive guidance molecule c/hemojuvelin (Hfe2) gene transcription in skeletal muscle. Genomics. 2010;96:342-51 pubmed publisher
    b>Repulsive guidance molecule c (RGMc; gene symbol: Hfe2) plays a critical role in iron metabolism. Inactivating mutations cause juvenile hemochromatosis, a severe iron overload disorder...
  18. Bartnikas T, Fleming M. Hemojuvelin is essential for transferrin-dependent and transferrin-independent hepcidin expression in mice. Haematologica. 2012;97:189-92 pubmed publisher
    ..Mice deficient in transferrin (Tf(hpx/hpx)) and hemojuvelin (Hjv(-/-)), a gene mutated in juvenile hemochromatosis, a disease of hepcidin deficiency and iron overload, ..
  19. Rodriguez Martinez A, Niemela O, Parkkila S. Hepatic and extrahepatic expression of the new iron regulatory protein hemojuvelin. Haematologica. 2004;89:1441-5 pubmed
    ..hemochromatosis, is an early-onset form which is caused by mutations in a recently identified gene, called HJV or HFE2. A previous report based on Northern blotting showed human HJV mRNA expression only in the skeletal muscle, liver ..
  20. Schnichels S, Conrad S, Warstat K, Henke Fahle S, Skutella T, Schraermeyer U, et al. Gene expression of the repulsive guidance molecules/neogenin in the developing and mature mouse visual system: C57BL/6J vs. the glaucoma model DBA/2J. Gene Expr Patterns. 2007;8:1-11 pubmed
    ..As expected, no specific retinal expression of RGMc was detected in any of the age groups investigated...
  21. Salama M, Bayele H, Srai S. Tumour necrosis factor alpha downregulates human hemojuvelin expression via a novel response element within its promoter. J Biomed Sci. 2012;19:83 pubmed publisher
    ..b>Hemojuvelin (HJV) is a bone morphogenetic protein co-receptor that has been identified as a main upstream regulator of ..
  22. Xia Y, Cortez Retamozo V, Niederkofler V, Salie R, Chen S, Samad T, et al. Dragon (repulsive guidance molecule b) inhibits IL-6 expression in macrophages. J Immunol. 2011;186:1369-76 pubmed publisher
    Repulsive guidance molecule (RGM) family members RGMa, RGMb/Dragon, and RGMc/hemojuvelin were found recently to act as bone morphogenetic protein (BMP) coreceptors that enhance BMP signaling activity...
  23. Lee D, Lee D, Zhou L, Zhou L, Zhou Z, Xie J, et al. Neogenin inhibits HJV secretion and regulates BMP-induced hepcidin expression and iron homeostasis. Blood. 2010;115:3136-45 pubmed publisher
    ..RGMc, also called hemojuvelin (HJV), is essential for iron homeostasis...
  24. Metzger M, Conrad S, Alvarez Bolado G, Skutella T, Just L. Gene expression of the repulsive guidance molecules during development of the mouse intestine. Dev Dyn. 2005;234:169-75 pubmed
    ..by RT-PCR, in situ hybridization, Western blot, and immunocytochemistry that subtypes RGMa and RGMb but not RGMc were strongly expressed in enteric ganglia cells of the fetal and adult gut...
  25. Frýdlová J, Přikryl P, Truksa J, Falke L, Du X, Gurieva I, et al. Effect of Erythropoietin, Iron Deficiency and Iron Overload on Liver Matriptase-2 (TMPRSS6) Protein Content in Mice and Rats. PLoS ONE. 2016;11:e0148540 pubmed publisher
    ..Administration of high doses of iron to mice (200, 350 and 700 mg/kg) decreased TMPRSS6 protein content. Hemojuvelin was detected in the plasma membrane-enriched fractions of control animals as a full length protein of ..
  26. Wu Q, Wang H, An P, Tao Y, Deng J, Zhang Z, et al. HJV and HFE Play Distinct Roles in Regulating Hepcidin. Antioxid Redox Signal. 2015;22:1325-36 pubmed publisher
    Hereditary hemochromatosis (HH) is an iron overload disease that is caused by mutations in HFE, HJV, and several other genes. However, whether HFE-HH and HJV-HH share a common pathway via hepcidin regulation is currently unclear...
  27. Yoon D, Pastore Y, Divoky V, Liu E, Mlodnicka A, Rainey K, et al. Hypoxia-inducible factor-1 deficiency results in dysregulated erythropoiesis signaling and iron homeostasis in mouse development. J Biol Chem. 2006;281:25703-11 pubmed
    ..These results identify a novel role for HIF-1 in the regulation of iron homeostasis and reveal unexpected regulatory differences in Epo/EpoR signaling in yolk sac and embryonic erythropoiesis. ..
  28. Padda R, Gkouvatsos K, Guido M, Mui J, Vali H, Pantopoulos K. A high-fat diet modulates iron metabolism but does not promote liver fibrosis in hemochromatotic Hjv⁻/⁻ mice. Am J Physiol Gastrointest Liver Physiol. 2015;308:G251-61 pubmed publisher
    b>Hemojuvelin (Hjv) is a membrane protein that controls body iron metabolism by enhancing signaling to hepcidin. Hjv mutations cause juvenile hemochromatosis, a disease of systemic iron overload...
  29. Kent P, Wilkinson N, Constante M, Fillebeen C, Gkouvatsos K, Wagner J, et al. Hfe and Hjv exhibit overlapping functions for iron signaling to hepcidin. J Mol Med (Berl). 2015;93:489-98 pubmed publisher
    Functional inactivation of HFE or hemojuvelin (HJV) is causatively linked to adult or juvenile hereditary hemochromatosis, respectively. Systemic iron overload results from inadequate expression of hepcidin, the iron regulatory hormone...
  30. Singh S, Gellert M. Role of RAG1 autoubiquitination in V(D)J recombination. Proc Natl Acad Sci U S A. 2015;112:8579-83 pubmed publisher
    ..Thus, ubiquitination of RAG1, which can be promoted by RAG1's own ubiquitin ligase activity, plays a significant role in governing the level of V(D)J recombination activity. ..
  31. Canali S, Zumbrennen Bullough K, Core A, Wang C, Nairz M, Bouley R, et al. Endothelial cells produce bone morphogenetic protein 6 required for iron homeostasis in mice. Blood. 2017;129:405-414 pubmed publisher
    ..Localization of the BMP co-receptor hemojuvelin was visualized by immunofluorescence microscopy...
  32. Gnana Prakasam J, Zhang M, Martin P, Atherton S, Smith S, Ganapathy V. Expression of the iron-regulatory protein haemojuvelin in retina and its regulation during cytomegalovirus infection. Biochem J. 2009;419:533-43 pubmed publisher
    ..HFE [HLA-like protein involved in iron (Fe) homoeostasis], transferrin receptor 2, ferroportin, hepcidin and HJV (haemojuvelin). Expression of the first four genes coding for these proteins in retina has been established...
  33. Miller H, Schwiesow L, Au Yeung W, Auerbuch V. Hereditary Hemochromatosis Predisposes Mice to Yersinia pseudotuberculosis Infection Even in the Absence of the Type III Secretion System. Front Cell Infect Microbiol. 2016;6:69 pubmed publisher
    ..and the requirement for the Ysc type III secretion system (T3SS), we utilized two distinct murine models of HH: hemojuvelin knockout mice that mimic severe, early-onset HH as well as mice with the Hfe (C282Y?C282Y) mutation carried by ..
  34. Fujikura Y, Krijt J, Necas E. Liver and muscle hemojuvelin are differently glycosylated. BMC Biochem. 2011;12:52 pubmed publisher
    b>Hemojuvelin (HJV) is one of essential components for expression of hepcidin, a hormone which regulates iron transport. HJV is mainly expressed in muscle and liver, and processing of HJV in both tissues is similar...
  35. Frýdlová J, Fujikura Y, Vokurka M, Necas E, Krijt J. Decreased hemojuvelin protein levels in mask mice lacking matriptase-2-dependent proteolytic activity. Physiol Res. 2013;62:405-11 pubmed
    ..Although matriptase-2 has been proposed to cleave membrane hemojuvelin, we have recently found decreased hemojuvelin protein levels in Tmprss6 -/- mice...
  36. Tawfik A, Gnana Prakasam J, Smith S, Ganapathy V. Deletion of hemojuvelin, an iron-regulatory protein, in mice results in abnormal angiogenesis and vasculogenesis in retina along with reactive gliosis. Invest Ophthalmol Vis Sci. 2014;55:3616-25 pubmed publisher
    Loss-of-function mutations in hemojuvelin (HJV) cause juvenile hemochromatosis, an iron-overload disease. Deletion of Hjv in mice results in excessive iron accumulation and morphologic changes in the retina...
  37. Kautz L, Jung G, Valore E, Rivella S, Nemeth E, Ganz T. Identification of erythroferrone as an erythroid regulator of iron metabolism. Nat Genet. 2014;46:678-84 pubmed publisher
    ..ERFE expression is greatly increased in Hbb(th3/+) mice with thalassemia intermedia, where it contributes to the suppression of hepcidin and the systemic iron overload characteristic of this disease. ..
  38. Brewer C, Wood R, Wood J. mRNA regulation of cardiac iron transporters and ferritin subunits in a mouse model of iron overload. Exp Hematol. 2014;42:1059-67 pubmed publisher
    ..Men have twice the mortality rate of women, though the cause is unknown. In hemojuvelin-knockout mice, a model of the disease, males load more cardiac iron than females...
  39. Wahedi M, Wortham A, Kleven M, Zhao N, Jue S, Enns C, et al. Matriptase-2 suppresses hepcidin expression by cleaving multiple components of the hepcidin induction pathway. J Biol Chem. 2017;292:18354-18371 pubmed publisher
    ..b>Hemojuvelin (HJV), HFE, and transferrin receptor-2 (TfR2) facilitate this process presumably by forming a plasma membrane ..
  40. Gnana Prakasam J, Tawfik A, Romej M, Ananth S, Martin P, Smith S, et al. Iron-mediated retinal degeneration in haemojuvelin-knockout mice. Biochem J. 2012;441:599-608 pubmed publisher
    ..leucocyte antigen-like protein involved in iron homoeostasis), transferrin receptor 2, ferroportin, hepcidin and HJV (haemojuvelin)...
  41. Latour C, Besson Fournier C, Gourbeyre O, Meynard D, Roth M, Coppin H. Deletion of BMP6 worsens the phenotype of HJV-deficient mice and attenuates hepcidin levels reached after LPS challenge. Blood. 2017;130:2339-2343 pubmed publisher
    Lack of either bone morphogenetic protein 6 (BMP6) or the BMP coreceptor hemojuvelin (HJV) in mice leads to a similar phenotype with hepcidin insufficiency, hepatic iron loading, and extrahepatic iron accumulation in males...
  42. Ramamoorthy S, Leibach F, Mahesh V, Han H, Yang Feng T, Blakely R, et al. Functional characterization and chromosomal localization of a cloned taurine transporter from human placenta. Biochem J. 1994;300 ( Pt 3):893-900 pubmed
    ..9 kb transcript. Somatic cell hybrid and in situ hybridization studies indicate that the cloned taurine transporter is localized to human chromosome 3 p24-->p26. ..
  43. Gnana Prakasam J, Veeranan Karmegam R, Coothankandaswamy V, Reddy S, Martin P, Thangaraju M, et al. Loss of Hfe leads to progression of tumor phenotype in primary retinal pigment epithelial cells. Invest Ophthalmol Vis Sci. 2013;54:63-71 pubmed publisher
    ..The expression of HDACs and DNA methyltransferase (DNMTs) also was increased. Similarly, RPE cells from hemojuvelin (Hjv)-knockout mice, another model of hemochromatosis, also had increased expression of GLUTs, HDACs, and DNMTs...
  44. Truksa J, Lee P, Beutler E. Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of the hepcidin promoter are critical for BMP, SMAD1, and HJV responsiveness. Blood. 2009;113:688-95 pubmed publisher
    ..Several bone morphogenetic proteins (BMPs) are strong inducers of hepcidin (Hamp1, HAMP) expression. Hemojuvelin, a protein critical for maintaining appropriate levels of hepcidin, acts as a coreceptor for BMP2 and BMP4, ..
  45. Canali S, Core A, Zumbrennen Bullough K, Merkulova M, Wang C, Schneyer A, et al. Activin B Induces Noncanonical SMAD1/5/8 Signaling via BMP Type I Receptors in Hepatocytes: Evidence for a Role in Hepcidin Induction by Inflammation in Male Mice. Endocrinology. 2016;157:1146-62 pubmed publisher
    ..The coreceptor hemojuvelin binds to activin B and facilitates activin B-SMAD1/5/8 signaling...
  46. Moroishi T, Nishiyama M, Takeda Y, Iwai K, Nakayama K. The FBXL5-IRP2 axis is integral to control of iron metabolism in vivo. Cell Metab. 2011;14:339-51 pubmed publisher
    ..The liver-specific mutant mice died with acute liver failure when fed a high-iron diet. Thus, our results uncover a major role for FBXL5 in ensuring an appropriate supply of iron to cells. ..
  47. Shalev H, Perez Avraham G, Kapelushnik J, Levi I, Rabinovich A, Swinkels D, et al. High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I. Eur J Haematol. 2013;90:31-6 pubmed publisher
    ..b>Hemojuvelin (HJV) is an important regulator of serum hepcidin, while soluble form of HJV (s-HJV) competitively down-..
  48. Samad T, Srinivasan A, Karchewski L, Jeong S, Campagna J, Ji R, et al. DRAGON: a member of the repulsive guidance molecule-related family of neuronal- and muscle-expressed membrane proteins is regulated by DRG11 and has neuronal adhesive properties. J Neurosci. 2004;24:2027-36 pubmed
    ..The dynamic expression, ordered spatial localization, and adhesive properties of the RGM-related family of membrane-associated proteins are compatible with specific roles in development. ..
  49. Vujic Spasic M, Sparla R, Mleczko Sanecka K, Migas M, Breitkopf Heinlein K, Dooley S, et al. Smad6 and Smad7 are co-regulated with hepcidin in mouse models of iron overload. Biochim Biophys Acta. 2013;1832:76-84 pubmed publisher
    ..Using mouse models for hereditary hemochromatosis (Hfe-, TfR2-, Hfe/TfR2-, Hjv- and hepcidin1-deficient mice) we show that hepcidin, Smad6 and Smad7 mRNA expression is coordinated in such a way ..
  50. Nili M, David L, Elferich J, Shinde U, Rotwein P. Proteomic analysis and molecular modelling characterize the iron-regulatory protein haemojuvelin/repulsive guidance molecule c. Biochem J. 2013;452:87-95 pubmed publisher
    ..HJV, also known as RGMc (repulsive guidance molecule c), is a member of the three-protein RGM family...
  51. Zhao N, Maxson J, Zhang R, Wahedi M, Enns C, Zhang A. Neogenin Facilitates the Induction of Hepcidin Expression by Hemojuvelin in the Liver. J Biol Chem. 2016;291:12322-35 pubmed publisher
    b>Hemojuvelin (HJV) regulates iron homeostasis by direct interaction with bone morphogenetic protein (BMP) ligands to induce hepcidin expression through the BMP signaling pathway in the liver...
  52. Nikkari S, Visto A, Määttä K, Kunnas T. Minor variant of rs 16827043 in the iron regulator hemojuvelin gene (HJV) contributes to hypertension: The TAMRISK study. Medicine (Baltimore). 2017;96:e6052 pubmed publisher
    ..us to study whether there is an association between hypertension and another iron overload-associated gene, hemojuvelin (HJV), which has 2 common polymorphic sites (rs 16827043, rs7536827)...
  53. Schmidt P, Andrews N, Fleming M. Hepcidin induction by transgenic overexpression of Hfe does not require the Hfe cytoplasmic tail, but does require hemojuvelin. Blood. 2010;116:5679-87 pubmed publisher
    ..transgenes encoding both WT Hfe and Hfe lacking its cytoplasmic domain is greatly attenuated in the absence of hemojuvelin (Hjv)...
  54. Kovac S, Böser P, Cui Y, Ferring Appel D, Casarrubea D, Huang L, et al. Anti-hemojuvelin antibody corrects anemia caused by inappropriately high hepcidin levels. Haematologica. 2016;101:e173-6 pubmed publisher
  55. Rausa M, Pagani A, Nai A, Campanella A, Gilberti M, Apostoli P, et al. Bmp6 expression in murine liver non parenchymal cells: a mechanism to control their high iron exporter activity and protect hepatocytes from iron overload?. PLoS ONE. 2015;10:e0122696 pubmed publisher
    ..iron content in acute or chronic manner and in disease models of iron deficiency (Tmprss6 KO mouse) and overload (Hjv KO mouse)...
  56. Willemetz A, Lenoir A, Deschemin J, Lopez Otin C, Ramsay A, Vaulont S, et al. Matriptase-2 is essential for hepcidin repression during fetal life and postnatal development in mice to maintain iron homeostasis. Blood. 2014;124:441-4 pubmed publisher
  57. Gnana Prakasam J, Reddy S, Veeranan Karmegam R, Smith S, Martin P, Ganapathy V. Polarized distribution of heme transporters in retinal pigment epithelium and their regulation in the iron-overload disease hemochromatosis. Invest Ophthalmol Vis Sci. 2011;52:9279-86 pubmed publisher
    ..of heme transporters by iron overload was studied in two genetic models of hemochromatosis (HFE-null mouse and HJV-null mouse) and in two nongenetic models of iron overload (cytomegalovirus infection and treatment with ferric ..
  58. Frýdlová J, Rychtarčíková Z, Gurieva I, Vokurka M, Truksa J, Krijt J. Effect of erythropoietin administration on proteins participating in iron homeostasis in Tmprss6-mutated mask mice. PLoS ONE. 2017;12:e0186844 pubmed publisher
    ..In mask mice, the amount of liver hemojuvelin was decreased in comparison with C57BL/6 mice...