Version 5.4
| Mus musculus Gene: Hfe2 | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-175411.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | Hfe2 | ||||||||
| Gene Name | hemochromatosis type 2 (juvenile) (human homolog) | ||||||||
| Synonyms | 2310035L15Rik; 5230400G09Rik; AI414844; AI789733; DL-M; hemojuvelin; HJV; Rgmc | ||||||||
| Species | Mus musculus | ||||||||
| Ensembl Gene | ENSMUSG00000038403 | ||||||||
| Encoded Proteins |
hemochromatosis type 2 (juvenile) (human homolog)
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| Protein Structure |
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| 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] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 3:96525185-96529216 | ||||||||
| Strand | Forward strand | ||||||||
| Band | F2.1 | ||||||||
| Transcripts |
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| 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.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||
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Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||
| NETPATH | |||||||||
| REACTOME |
Netrin-1 signaling pathway
Axon guidance pathway
Developmental Biology pathway
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| KEGG | |||||||||
| INOH | |||||||||
| PID NCI | |||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||
| NETPATH | |||||||||
| REACTOME |
Netrin-1 signaling pathway
Developmental Biology pathway
Axon guidance pathway
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| KEGG | |||||||||
| INOH | |||||||||
| PID NCI | |||||||||
| Cross-References | |||||||||
| SwissProt | Q7TQ32 | ||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 69585 | ||||||||
| UniGene | Mm.171314 | ||||||||
| RefSeq | NM_027126 XM_006502036 XM_006502037 | ||||||||
| OMIM | |||||||||
| CCDS | CCDS51003 | ||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| MGI ID | MGI:1916835 | ||||||||
| MGI Symbol | Hfe2 | ||||||||
| EMBL | AJ557515 AK009636 AK014082 BC022603 | ||||||||
| GenPept | AAH22603 BAB26407 BAC25423 CAD89720 | ||||||||
| RNA Seq Atlas | 69585 | ||||||||