| Primary Identifier | MGI:1354956 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 50765 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable co-receptor binding activity and transferrin receptor activity. Acts upstream of or within multicellular organismal-level iron ion homeostasis. Part of HFE-transferrin receptor complex. Is expressed in liver lobe; mesonephros; and urinary system. Used to study hemochromatosis type 3. Human ortholog(s) of this gene implicated in hemochromatosis and hemochromatosis type 3. Orthologous to human TFR2 (transferrin receptor 2). PHENOTYPE: Homozygous mutant mice exhibit iron homeostasis defects similar to those observed in human hemachromatosis. On a standard diet, mutant mice show periportal hepatic iron loading, splenic iron sparing, and elevated serum transferrin saturations. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
