Version 5.4
Bos taurus Gene: HFE2
Summary
InnateDB Gene IDBG-633543.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HFE2
Gene Name hemojuvelin precursor
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000021823
Encoded Proteins
IDBP-685264
hemochromatosis type 2 (juvenile)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000168509:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:21470721-21474444
Strand Forward strand
Band
Transcripts
ENSBTAT00000029092 ENSBTAP00000029092
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
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000168509
View Gene Order
ENSMUSG00000038403
View Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_22237
Netrin-1 signaling pathway
REACT_111045
Developmental Biology pathway
REACT_18266
Axon guidance pathway
REACT_229826
Netrin-1 signaling pathway
REACT_261444
Axon guidance pathway
REACT_188576
Developmental Biology pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Bt.55663
RefSeq NM_001206914 XM_005203975
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

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