Version 5.4
Homo sapiens Gene: HFE2
Summary
InnateDB Gene IDBG-101703.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HFE2
Gene Name hemochromatosis type 2 (juvenile)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000168509
Encoded Proteins
IDBP-101705
hemochromatosis type 2 (juvenile)
IDBP-101709
hemochromatosis type 2 (juvenile)
IDBP-388073
hemochromatosis type 2 (juvenile)
IDBP-482790
hemochromatosis type 2 (juvenile)
IDBP-475041
hemochromatosis type 2 (juvenile)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 1:146017468-146021918
Strand Reverse strand
Band q21.1
Transcripts
ENST00000357836 ENSP00000350495
ENST00000336751 ENSP00000337014
ENST00000421822 ENSP00000411863
ENST00000497365 ENSP00000421820
ENST00000475797 ENSP00000425716
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000038403
View Gene Order
ENSBTAG00000021823
Not yet available
Pathways
NETPATH
REACTOME
REACT_22237
Netrin-1 signaling pathway
REACT_111045
Developmental Biology pathway
REACT_18266
Axon guidance pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q6ZVN8
TrEMBL
UniProt Splice Variant
Entrez Gene 148738
UniGene Hs.632436
RefSeq NM_202004 NM_145277 NM_213652 NM_213653 XM_005272932
HUGO HGNC:4887
OMIM 608374
CCDS CCDS72877 CCDS72878 CCDS72879
HPRD 10521
IMGT
EMBL AK092682 AK092692 AK096905 AK124273 AL138842 AL355505 AY372521 BC017926 BC085604 CH471244 DQ309445
GenPept AAH17926 AAH85604 AAR22390 ABC40718 BAC03944 BAC03947 BAC04890 BAC85823 CAI22091 CAI22349 EAW71408
RNA Seq Atlas 148738

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