Aliases for HFE2 Gene
External Ids for HFE2 Gene
Previous GeneCards Identifiers for HFE2 Gene
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. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. 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. [provided by RefSeq, Oct 2015]
GeneCards Summary for HFE2 Gene
HFE2 (Hemochromatosis Type 2 (Juvenile)) is a Protein Coding gene. Diseases associated with HFE2 include Hemochromatosis, Type 2A and Juvenile Hereditary Hemochromatosis. Among its related pathways are Developmental Biology and Signaling by BMP. GO annotations related to this gene include coreceptor activity. An important paralog of this gene is RGMA.
UniProtKB/Swiss-Prot for HFE2 Gene
Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis.