COL8A2 Gene Summary [Human]
This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Details
| Type | Protein Coding |
| Official Symbol | COL8A2 |
| Official Name | collagen type VIII alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2216] |
| Ensembl ID | ENSG00000171812 |
| Bio databases IDs | |
| Aliases | collagen type VIII alpha 2 chain |
| 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 | 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 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 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
- 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 human 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