HJV Gene Summary [Human]
The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]
Details
| Type | Protein Coding |
| Official Symbol | HJV |
| Official Name | hemojuvelin BMP co-receptor [Source:HGNC Symbol;Acc:HGNC:4887] |
| Ensembl ID | ENSG00000168509 |
| Bio databases IDs | |
| Aliases | hemojuvelin BMP co-receptor, repulsive guidance molecule c |
| Synonyms | 2310035L15Rik, 5230400G09Rik, AI789733, DL-M, haemojuvelin, haemojuvelin BMP co-receptor, hemojuvelin, hemojuvelin BMP co-receptor, HFE2, HFE2A, JH, LOC148738, RGMC |
| Species | Human, Homo sapiens |
| 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 human 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 human 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 human 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