Version 5.4
Mus musculus Protein: Hfe2
Summary
InnateDB Protein IDBP-175413.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Hfe2
Protein Name hemochromatosis type 2 (juvenile) (human homolog)
Synonyms 2310035L15Rik; 5230400G09Rik; AI414844; AI789733; DL-M; hemojuvelin; HJV; Rgmc;
Species Mus musculus
Ensembl Protein ENSMUSP00000046659
InnateDB Gene IDBG-175411 (Hfe2)
Protein Structure
UniProt Annotation
Function Member of the repulsive guidance molecule (RGM) family. Involved in iron metabolism (By similarity). 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 (By similarity). Could represent the cellular receptor for hepcidin (By similarity). {ECO:0000250}.
Subcellular Localization Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
Disease Associations
Tissue Specificity Muscle cell lineage. {ECO:0000269PubMed:14678836}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0015026 coreceptor activity
Biological Process
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 MGI:1916835
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 Q7TQ32
PhosphoSite PhosphoSite-Q7TQ32
TrEMBL
UniProt Splice Variant
Entrez Gene 69585
UniGene Mm.171314
RefSeq NP_081402
MGI ID
MGI Symbol Hfe2
OMIM
CCDS CCDS51003
HPRD
IMGT
EMBL AJ557515 AK009636 AK014082 BC022603
GenPept AAH22603 BAB26407 BAC25423 CAD89720

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