Hjv Gene Summary [Mouse]
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]
Details
| Type | Protein Coding |
| Official Symbol | Hjv |
| Official Name | hemojuvelin BMP co-receptor [Source:MGI Symbol;Acc:MGI:1916835] |
| Ensembl ID | ENSMUSG00000038403 |
| Bio databases IDs | |
| Aliases | hemojuvelin BMP co-receptor |
| Synonyms | 2310035L15Rik, 5230400G09Rik, AI789733, DL-M, haemojuvelin, haemojuvelin BMP co-receptor, hemojuvelin, hemojuvelin BMP co-receptor, HFE2, HFE2A, JH, LOC148738, RGMC |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Hjv often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transmembrane receptor protein serine/threonine kinase
- cytokine binding
- Repulsive guidance molecule (RGM) N-terminus
- Repulsive guidance molecule (RGM) C-terminus
- RGD motif
- protein binding
- receptor binding
- transmembrane receptor
- coreceptor
Pathways
Biological processes and signaling networks where the Hjv gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary hemochromatosis type 2A
- intellectual disability and developmental delay
- hereditary hemochromatosis
- microcytic anemia
- juvenile hemochromatosis
- HFE-associated hereditary hemochromatosis
- hemochromatosis
- experimental autoimmune encephalomyelitis
role in cell
- expression in
- production in
- number
- abnormal morphology
- cellular infiltration by
- homeostasis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- perinuclear body
- cell surface
- Extracellular Space
- centrosome
- Golgi Apparatus
- Endoplasmic Reticulum
- basolateral membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Hjv gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- activin receptor signaling pathway
- negative regulation of BMP signaling pathway
- negative regulation of transcription from RNA polymerase II promoter
- cellular iron ion homeostasis
- multicellular organismal iron ion homeostasis
- cellular response to BMP stimulus
- BMP signaling pathway
- transcription from RNA polymerase II promoter
- protein autoprocessing
- positive regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- extracellular space
- BMP receptor complex
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- BMP binding
- coreceptor activity
- protein binding
- receptor binding