InnateDB Protein
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IDBP-482790.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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HFE2
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Protein Name
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hemochromatosis type 2 (juvenile)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000421820
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InnateDB Gene
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IDBG-101703 (HFE2)
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Protein Structure
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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}.
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Subcellular Localization |
Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
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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.
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Tissue Specificity |
Adult and fetal liver, heart, and skeletal muscle. {ECO:0000269PubMed:14647275}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR009496
Repulsive guidance molecule, C-terminal
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PFAM |
PF06534
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q6ZVN8
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PhosphoSite |
PhosphoSite-Q6ZVN8
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
148738
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UniGene |
Hs.632436
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RefSeq |
NP_973733
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HUGO |
HGNC:4887
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OMIM |
608374
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CCDS |
CCDS72877
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HPRD |
10521
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IMGT |
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EMBL |
AK092682
AK092692
AK096905
AK124273
AL138842
AL355505
AY372521
BC017926
BC085604
CH471244
DQ309445
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GenPept |
AAH17926
AAH85604
AAR22390
ABC40718
BAC03944
BAC03947
BAC04890
BAC85823
CAI22091
CAI22349
EAW71408
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