| Primary Identifier | MGI:98822 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 22042 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including Hsp70 protein binding activity; protein homodimerization activity; and transferrin receptor activity. Involved in several processes, including osteoclast differentiation; positive regulation of bone resorption; and positive regulation of lymphocyte proliferation. Acts upstream of or within cellular response to leukemia inhibitory factor and intracellular iron ion homeostasis. Located in several cellular components, including clathrin-coated pit; endosome; and extracellular exosome. Part of HFE-transferrin receptor complex. Is active in postsynapse. Is expressed in several structures, including extraembryonic component; gut; liver; meninges; and renal cortex. Used to study Weissenbacher-Zweymuller syndrome. Human ortholog(s) of this gene implicated in breast carcinoma; immunodeficiency 46; multiple myeloma; and ovarian cancer. Orthologous to human TFRC (transferrin receptor). PHENOTYPE: Homozygous mutant embryos do not survive past E12.5, exhibiting anemia, hydrops fetalis, and neurological defects. Haploinsufficiency results in abnromal erythrocytes and tissue iron deficiency. [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
