Heph Gene Summary [Mouse]
Enables ferroxidase activity. Involved in intestinal iron absorption; multicellular organismal-level iron ion homeostasis; and positive regulation of iron export across plasma membrane. Acts upstream of or within erythrocyte differentiation. Predicted to be located in perinuclear region of cytoplasm. Predicted to be active in basolateral plasma membrane. Orthologous to human HEPH (hephaestin). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Heph |
| Official Name | hephaestin [Source:MGI Symbol;Acc:MGI:1332240] |
| Ensembl ID | ENSMUSG00000031209 |
| Bio databases IDs | |
| Aliases | hephaestin |
| Synonyms | C130006F04Rik, CPL, hephaestin, Hp, image:5368562, mKIAA0698, sla |
| 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 Heph often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ferrous iron binding
- copper ion binding
- Multicopper oxidase
- Cupredoxin superfamily
- protein binding
- ferroxidase
- transporter
Pathways
Biological processes and signaling networks where the Heph 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
- neurodegeneration
- anemia
- androgenic alopecia
- focal cortical dysplasia of Taylor
- gestational diabetes mellitus
- autosomal dominant polycystic kidney disease
- motor dysfunction
- uterine serous papillary cancer
- experimental systemic lupus erythematosus
role in cell
- expression in
- accumulation 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 region
- cellular membrane
- cytosol
- basolateral membrane
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Heph gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- copper ion transport
- iron ion transport
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- basolateral plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- copper ion binding
- oxidoreductase activity
- ferrous iron binding
- ferroxidase activity