Col8a2 Gene Summary [Mouse]
Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within camera-type eye morphogenesis and endothelial cell proliferation. Predicted to be located in basement membrane and extracellular region. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in basement membrane; blood vessel; cornea; genitourinary system; and heart. Used to study Fuchs' endothelial dystrophy. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy and posterior polymorphous corneal dystrophy 2. Orthologous to human COL8A2 (collagen type VIII alpha 2 chain). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Col8a2 |
| Official Name | collagen, type VIII, alpha 2 [Source:MGI Symbol;Acc:MGI:88464] |
| Ensembl ID | ENSMUSG00000056174 |
| Bio databases IDs | |
| Aliases | collagen, type VIII, alpha 2 |
| Synonyms | collagen, type VIII, alpha 2, collagen type VIII alpha 2 chain, collagen, type VIII, α 2, collagen type VIII α 2 chain, FECD, FECD1, PPCD, PPCD2 |
| 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 Col8a2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Collagen triple helix repeat (20 copies)
- C1q domain
Pathways
Biological processes and signaling networks where the Col8a2 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
- open-angle glaucoma
- androgenic alopecia
- organismal death
- Peyronie disease
- posterior polymorphous corneal dystrophy
- burn
- Dupuytren contracture
- Hutchinson-Gilford progeria syndrome
- diabetic foot ulcer disorder
- Fuchs endothelial corneal dystrophy type 1
role in cell
- proliferation
- size
- abnormal morphology
- loss in
- thickness
- loss
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- endoplasmic reticulum lumen
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col8a2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- camera-type eye morphogenesis
- angiogenesis
- extracellular matrix organization
- endothelial cell proliferation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- basement membrane
- extracellular space
- collagen
- extracellular matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- extracellular matrix structural constituent conferring tensile strength
- protein binding, bridging
- extracellular matrix structural constituent