Harmonizome

hemochromatosis

The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

hemochromatosis type 2 (juvenile)

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. [provided by RefSeq, Jul 2008]

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hfe in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for HFE from the Pathway Commons Protein-Protein Interactions dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hfemutant in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hfen1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hfebeta2microglobulin in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hfe2mediated in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hfehlaa in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hferritin in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hfeh63d in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hfeg388a in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hfe2 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hferelated in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hfecimpr in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hfehc in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From OMIM Gene-Disease Associations

genes associated with the {hfe hemochromatosis, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for HFE2 from the Pathway Commons Protein-Protein Interactions dataset.