Version 5.4
| Homo sapiens Protein: TFR2 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-475325.3 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | TFR2 | ||||||||||||||||||
| Protein Name | transferrin receptor 2 | ||||||||||||||||||
| Synonyms | HFE3; TFRC2; | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000420525 | ||||||||||||||||||
| InnateDB Gene | IDBG-31680 (TFR2) | ||||||||||||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||||||||||||
| Function | Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. | ||||||||||||||||||
| Subcellular Localization | Cell membrane; Single-pass type II membrane protein.Isoform Beta: Cytoplasm {ECO:0000305}. Note=Lacks the transmembrane domain. Probably intracellular. | ||||||||||||||||||
| Disease Associations | Hemochromatosis 3 (HFE3) [MIM:604250]: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. {ECO:0000269PubMed:11313241, ECO:0000269PubMed:12130528, ECO:0000269PubMed:14633868}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
| Tissue Specificity | Predominantly expressed in liver. While the alpha form is also expressed in spleen, lung, muscle, prostate and peripheral blood mononuclear cells, the beta form is expressed in all tissues tested, albeit weakly. | ||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR003137
Protease-associated domain, PA IPR007365 Transferrin receptor-like, dimerisation domain IPR007484 Peptidase M28 |
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| PFAM |
PF02225
PF04253 PF04389 |
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| PRINTS | |||||||||||||||||||
| PIRSF | |||||||||||||||||||
| SMART | |||||||||||||||||||
| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q9UP52 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-Q9UP52 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 7036 | ||||||||||||||||||
| UniGene | Hs.544932 | ||||||||||||||||||
| RefSeq | XP_005250610 | ||||||||||||||||||
| HUGO | HGNC:11762 | ||||||||||||||||||
| OMIM | 604720 | ||||||||||||||||||
| CCDS | CCDS34707 | ||||||||||||||||||
| HPRD | 05282 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC099394 AF053356 AF067864 AK000421 AK022002 BC142630 DQ496110 | ||||||||||||||||||
| GenPept | AAC78796 AAD45561 AAI42631 ABF47099 BAA91153 BAB13951 | ||||||||||||||||||