| Primary Identifier | MGI:1916835 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 69585 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables BMP binding activity and coreceptor activity. Involved in intracellular iron ion homeostasis and negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including BMP signaling pathway; multicellular organismal-level iron ion homeostasis; and negative regulation of BMP signaling pathway. Located in cell surface and extracellular space. Is expressed in several structures, including gonad; musculature; submandibular gland; trunk mesenchyme; and yolk sac. Used to study hemochromatosis type 2A. Human ortholog(s) of this gene implicated in hemochromatosis and hemochromatosis type 2A. Orthologous to human HJV (hemojuvelin BMP co-receptor). PHENOTYPE: Mice homozygous for a knock-out allele exhibit lack of hepcidin expression, severe iron overload and male sterility. Mice homozygous for a different knock-out allele display systemic iron overload, a severe deficit in hepcidin production, overexpression of ferroportin but normal male fertility. [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
