Version 5.4
Homo sapiens Protein: HFE2
Summary
InnateDB Protein IDBP-101709.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HFE2
Protein Name hemochromatosis type 2 (juvenile)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000337014
InnateDB Gene IDBG-101703 (HFE2)
Protein Structure
UniProt Annotation
Function Member of the repulsive guidance molecule (RGM) family. Involved in iron metabolism. Acts as a bone morphogenetic protein (BMP) coreceptor (By similarity). Enhancement of BMP signaling regulates hepcidin (HAMP) expression and iron metabolism (By similarity). May cooperate with hepcidin to restrict iron absorption in the gut. Could represent the cellular receptor for hepcidin. {ECO:0000250}.
Subcellular Localization Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
Disease Associations Hemochromatosis 2A (HFE2A) [MIM:602390]: A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy. {ECO:0000269PubMed:14647275, ECO:0000269PubMed:14982867, ECO:0000269PubMed:14982873, ECO:0000269PubMed:15461631}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Adult and fetal liver, heart, and skeletal muscle. {ECO:0000269PubMed:14647275}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0015026 coreceptor activity
Biological Process
GO:0007411 axon guidance
GO:0030509 BMP signaling pathway
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0055072 iron ion homeostasis
Cellular Component
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0031225 anchored component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR009496 Repulsive guidance molecule, C-terminal
IPR010536 Repulsive guidance molecule, N-terminal
PFAM PF06534
PF06535
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6ZVN8
PhosphoSite PhosphoSite-Q6ZVN8
TrEMBL F8W6J7
UniProt Splice Variant
Entrez Gene 148738
UniGene Hs.632436
RefSeq NP_998818
HUGO HGNC:4887
OMIM 608374
CCDS CCDS72879
HPRD 10521
IMGT
EMBL AK092682 AK092692 AK096905 AK124273 AK290831 AK315852 AL138842 AL355505 AY372521 BC017926 BC085604 CH471244 DQ309445
GenPept AAH17926 AAH85604 AAR22390 ABC40718 BAC03944 BAC03947 BAC04890 BAC85823 BAF83520 BAF98743 CAI22091 CAI22092 CAI22349 CAI22350 EAW71408 EAW71409

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca