Aliases:This biomarker is also known as:
- hemochromatosis type 2 (juvenile),
- repulsive guidance molecule c,
- Hemochromatosis type 2 protein,
- RGM domain family member C,
HFE2, also known as RGM-C, is a member of the repulsive guidance molecule (RGM) family and is involved in iron metabolism. HFE2 may act as a bone morphogenetic protein (BMP) coreceptor. It is also thought to 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. Mutations in the HFE2 gene cause hemochromatosis type 2A, also called juvenile hemochromatosis (JH), 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.
There are no datasets associated with this biomarker.
The following organs have data associated with this biomarker…
HFE2 has not been identified previously in serum as a lung cancer biomarker and represents a novel finding in the aptamer proteomic technology study (Ostroff et al, 2010). A decreased level of HFE2 was seen in the serum of lung cancer patients compared to controls in this study.
HFE2, also known as RGM-C, is a member of a 12 protein panel that can discriminate NSCLC from controls with 91% sensitivity and 84% specificity in cross-validated training and 89% sensitivity and 83% specificity in a separate verification set, with similar performance for early and late stage NSCLC.
|UniProt Accession #:||Q6ZVN8|
|Mutated Sites Count:||150|
|Associated Pubmed ID Count||15|
|Affected Protein Function Sites Count:||4|