Col4a5 Gene Summary [Mouse]
Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within collagen-activated tyrosine kinase receptor signaling pathway and neuromuscular junction development. Located in basement membrane and neuromuscular junction. Part of collagen type IV trimer. Is expressed in several structures, including alimentary system; brain; extraembryonic component; genitourinary system; and salivary gland primordium. Used to study X-linked Alport syndrome. Human ortholog(s) of this gene implicated in Alport syndrome and X-linked Alport syndrome. Orthologous to human COL4A5 (collagen type IV alpha 5 chain). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Col4a5 |
| Official Name | collagen, type IV, alpha 5 [Source:MGI Symbol;Acc:MGI:88456] |
| Ensembl ID | ENSMUSG00000031274 |
| Bio databases IDs | |
| Aliases | collagen, type IV, alpha 5 |
| Synonyms | ASLN, ATS, ATS1, CA54, Collagen iv alpha5, collagen type IV alpha 4, collagen type IV alpha 5, collagen, type IV, alpha 5, collagen type IV alpha 5 chain, COLLAGEN type IV, ISOTYPE 4, COLLAGEN type IV, ISOTYPE 5, collagen type IV α 4, collagen type IV α 5, collagen, type IV, α 5, collagen type IV α 5 chain, Procollagen iv alpha5, RGD1565499 |
| 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 Col4a5 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)
- C-terminal tandem repeated domain in type 4 procollagen
- protein binding
Pathways
Biological processes and signaling networks where the Col4a5 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
- type I Alport syndrome
- Alport syndrome
- Dupuytren contracture
- diabetic foot ulcer disorder
- kidney disease
- X-linked Alport syndrome
- nephrosis
- aortic valve calcification
- cholesteatoma
- rheumatoid arthritis
role in cell
- development
- assembly
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
- neuromuscular junctions
- basement membrane
- glomerular basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col4a5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuromuscular junction development
- extracellular matrix organization
- collagen-activated tyrosine kinase receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- basement membrane
- neuromuscular junction
- extracellular region
- collagen type IV
Molecular Function
What the gene product does at the molecular level
- extracellular matrix structural constituent conferring tensile strength