Enables transferrin receptor binding activity. Involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process and positive regulation of gene expression. Acts upstream of or within hormone biosynthetic process and multicellular organismal-level iron ion homeostasis. Par
t of HFE-transferrin receptor complex. Is expressed in brain; choroid invagination; diencephalon roof plate; medulla oblongata part of 4th ventricle choroid plexus; and metencephalon part of 4th ventricle choroid plexus. Used to study hemochromatosis type 1. Human ortholog(s) of this gene implicated in several diseases, including arthritis (multiple); bone marrow cancer (multiple); hemochromatosis (multiple); liver disease (multiple); and microcytic anemia (multiple). Orthologous to human HFE (homeostatic iron regulator). [provided by Alliance of Genome Resources, Apr 2025]
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). [provided by Alliance of Genome Resources, Jul 2025]
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 sys
tem. 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). [provided by Alliance of Genome Resources, Jul 2025]