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HFE2

Basics

Aliases:
This biomarker is also known as:
  • HJV,
  • RGM domain family member C,
  • hemochromatosis type 2 (juvenile),
  • RGM-C,
  • Hemochromatosis type 2 protein,
  • hemojuvelin,
  • haemojuvelin,
  • JH,
  • HFE2A,
  • repulsive guidance molecule c,
  • RGMC,

View in BioMuta

Description…

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.

Attributes

QA State: Curated
Type: Protein
Short Name:

Datasets

There are no datasets associated with this biomarker.

Organs

The following organs have data associated with this biomarker…

Lung

Attributes

Phase: Two
QA State: Curated

Overview

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.

Performance Comment

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.

Studies

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

News

The final report of the 2013 Cancer Biomarkers Bioinformatics Workshop is now available.

Announcement 03/06/2014

Thank you to everyone who helped make the 27th EDRN Steering Committee Meeting a success. We look forward to seeing everyone at the 9th EDRN Scientific Workshop from September 8-11, 2014 in Washington D.C.

Announcement