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Browse our HFE2 Proteins (HFE2)

Full name:
Hemochromatosis Type 2 (Juvenile) Proteins (HFE2)
On are 14 Hemochromatosis Type 2 (Juvenile) (HFE2) Proteins from 6 different suppliers available. Additionally we are shipping HFE2 Antibodies (100) and HFE2 Kits (58) and many more products for this protein. A total of 180 HFE2 products are currently listed.
2310035L15Rik, 5230400G09Rik, AI414844, AI789733, DKFZp468F2322, DL-M, hemojuvelin, HFE2, HFE2A, HJV, JH, Rgmc
list all proteins Gene Name GeneID UniProt
HFE2 148738 Q6ZVN8
HFE2 310681  
HFE2 69585 Q7TQ32

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HFE2 Proteins (HFE2) by Origin

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Top referenced HFE2 Proteins

  1. Human HFE2 Protein expressed in Baculovirus infected Insect Cells - ABIN2002797 : Babitt, Huang, Wrighting, Xia, Sidis, Samad, Campagna, Chung, Schneyer, Woolf, Andrews, Lin: Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. in Nature genetics 2006 (PubMed)

More Proteins for HFE2 Interaction Partners

Human Hemochromatosis Type 2 (Juvenile) (HFE2) interaction partners

  1. study shows that patients with CRA (show MTMR11 Proteins) had high expression of BMP6 (show BMP6 Proteins) and hepcidin (show HAMP Proteins) and low expression of s-HJV. BMP6 (show BMP6 Proteins) was found to be negatively correlated with s-HJV; both regulate hepcidin (show HAMP Proteins) expression and play important roles in the development of anemia.

  2. HJV levels are low in NAFLD and even lower in iron overloaded NAFLD.

  3. Data show that transmembrane serine protease (show F2 Proteins) TMPRSS6 (show TMPRSS6 Proteins) cleaves both the heterodimeric and the full-length mutant hemojuvelin (m-HJV).

  4. Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy.

  5. The study demonstrates that the two upstream open reading frames (with 28 and 19 codons) present in the 5' UTR of the human HJV mRNA have the ability to significantly decrease translational efficiency under normal conditions.

  6. Case Reports: juvenile hemochromatosis (show HFE Proteins) associated with simple heterozygosity for novel HJV mutations and unknown genetic factors.

  7. suggesting that the homozygous mutation p.C321X in HJV is causative in the patient with hemochromatosis (show HFE Proteins)

  8. In dialysis patients, hemojuvelin levels are significantly increased but obesity does not have an additional impact.

  9. Membrane bound hemojuvelin (HJV) is associated with decreasing total kidney iron, secreting hepcidin (show HAMP Proteins), and promoting the degradation of ferroportin (show SLC40A1 Proteins) during acute kidney injury, whereas soluble HJV does the opposite.

  10. Data show that Patients with iron-refractory iron-deficiency anemia with a mutation in the TMPRSS6 (show TMPRSS6 Proteins) gene were found to have lower levels of circulating hemojuvelin than those in healthy patients.

Mouse (Murine) Hemochromatosis Type 2 (Juvenile) (HFE2) interaction partners

  1. The minor variant of the HJV polymorphic site rs16827043 is a significant factor associated with hypertension among 50 year-old individuals compared with the AA genotype carriers. For the other polymorphic variant rs7536827, association with hypertension was found only among normal or slightly overweight A-allele carriers. In conclusion, HJV genetic variants were associated with essential hypertension in Finnish subjects.

  2. Results indicate that an efficient induction of hepcidin (show HAMP Proteins) expression by hemojuvelin (HJV) requires its interaction with neogenin (show NEO1 Proteins).

  3. Single Hjv(-)/(-) and double Hfe (show HFE Proteins)(-)/(-)Hjv(-)/(-) mice exhibit comparable iron overload. Hfe (show HFE Proteins) and Hjv regulate hepcidin (show HAMP Proteins) via the same pathway.

  4. Results show that HFE (show HFE Proteins) may depend on HJV for hepcidin (show HAMP Proteins) regulation. Residual hepcidin (show HAMP Proteins) in the absence of HFE (show HFE Proteins) suggests either the presence of an unknown regulator synergistic with HJV or that HJV is sufficient to maintain basal levels of hepcidin (show HAMP Proteins).

  5. Parenchymal hepatic iron overload does not suffice to trigger progression of liver steatosis to steatohepatitis or fibrosis in Hjv knockout C57BL/6 mice.

  6. Hjv is not required for sensing of body iron levels and merely functions as an enhancer for iron signaling to hepcidin (show HAMP Proteins).

  7. Deletion of Hjv in mice leads to abnormal retinal angiogenesis/vasculogenesis, with proliferation of new, leaky blood vessels in the vitreous.

  8. Loss of matriptase-2 (show TMPRSS6 Proteins) increases bone morphogenetic protein-dependent signaling, while paradoxically decreasing liver hemojuvelin protein content.

  9. Use of proteomic analysis enables identification of four disulfide linkages in hemojuvelin/repulsive guidance molecule C. This molecule is a single-chain HJV/RGMc isoform.

  10. we conclude that TNF-alpha (show TNF Proteins) suppresses Hemojuvelin(HJV) transcription possibly via a novel TNFRE within the HJV promoter

HFE2 Protein Profile

Protein Summary

The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30.

Alternative names and synonyms associated with HFE2

  • hemochromatosis type 2 (juvenile) (HFE2)
  • hemochromatosis type 2 (juvenile) (Hfe2)
  • hemochromatosis type 2 (juvenile) (human homolog) (Hfe2)
  • hemojuvelin (LOC100355707)
  • 2310035L15Rik protein
  • 5230400G09Rik protein
  • AI414844 protein
  • AI789733 protein
  • DKFZp468F2322 protein
  • DL-M protein
  • hemojuvelin protein
  • HFE2 protein
  • HFE2A protein
  • HJV protein
  • JH protein
  • Rgmc protein

Protein level used designations for HFE2

hemochromatosis type 2 (juvenile) , RGM domain family member C , haemojuvelin , hemochromatosis type 2 protein , hemojuvelin , repulsive guidance molecule c , hemochromatosis type 2 (juvenile) (human homolog) , hemochromatosis type 2 protein homolog , repulsive guidance molecule C

475830 Canis lupus familiaris
698805 Macaca mulatta
743630 Pan troglodytes
746490 Pan troglodytes
100174250 Pongo abelii
100594831 Nomascus leucogenys
148738 Homo sapiens
310681 Rattus norvegicus
100733082 Cavia porcellus
100155778 Sus scrofa
100335368 Bos taurus
101114997 Ovis aries
69585 Mus musculus
100355707 Oryctolagus cuniculus
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