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Hemochromatosis Type 2 (Juvenile) Proteins (HFE2)

The product of HFE2 is involved in iron metabolism. Additionally we are shipping HFE2 Antibodies (97) and HFE2 Kits (41) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
HFE2 148738 Q6ZVN8
HFE2 310681  
HFE2 69585 Q7TQ32
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Top HFE2 Proteins at

Showing 9 out of 13 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Baculovirus infected Insect Cells Human His tag 100 μg Log in to see 16 Days
HOST_Baculovirus infected Insect Cells Cynomolgus His tag 100 μg Log in to see 16 Days
HOST_Escherichia coli (E. coli) Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific pu... 1 mg Log in to see 29 to 34 Days
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific pu... 1 mg Log in to see 29 to 34 Days
HOST_Escherichia coli (E. coli) Human His tag,T7 tag 100 μg Log in to see 11 to 13 Days
HOST_Wheat germ Human GST tag 10 μg Log in to see 9 Days
Yeast Rat His tag   1 mg Log in to see 56 to 66 Days
HOST_Synthetic Human Ovalbumin   100 μg Log in to see 11 to 13 Days
HOST_Escherichia coli (E. coli) Human Un-conjugated   100 μg Log in to see 9 to 19 Days

HFE2 Proteins by Origin and Source

Origin Expressed in Conjugate
Human , , ,
, , ,
Rat (Rattus)

Mouse (Murine)

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 Hemochromatosis Type 2 (Juvenile) (HFE2) Interaction Partners

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

  1. 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).

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

  3. 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.

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

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

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

  7. 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.

  8. 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.

  9. Hemojuvelin and hepcidin (show HAMP Proteins) affect iron metabolism and are elevated in kidney and heart allograft recipients

  10. The hemochromatosis (show HFE Proteins) proteins HFE (show HFE Proteins), TfR2 (show TFR2 Proteins), and HJV form a membrane-associated protein (show PDZK1IP1 Proteins) complex for hepcidin (show HAMP Proteins) regulation.

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

  1. 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.

  2. 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).

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

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

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

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

  7. 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.

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

  9. high levels of serum s-HJV in CDA I patients, suggesting that it may contribute to iron loading pathology in CDA I and eventually in other anemias with ineffective erythropoiesis.

  10. Hemojuvelin is essential for transferrin (show Tf Proteins)-dependent and transferrin (show Tf Proteins)-independent hepcidin (show HAMP Proteins) expression in conditions of iron overload.

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.

Gene names and symbols 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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