Col4a4 Gene Summary [Mouse]
An extracellular matrix structural constituent. Acts upstream of or within glomerular basement membrane development. Located in basement membrane. Part of collagen type IV trimer. Is expressed in embryo; glomerular tuft; and testis. Used to study autosomal recessive Alport syndrome. Human ortholog(s) of this gene implicated in autosomal recessive Alport syndrome; benign familial hematuria; and end stage renal disease. Orthologous to human COL4A4 (collagen type IV alpha 4 chain). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Col4a4 |
| Official Name | collagen, type IV, alpha 4 [Source:MGI Symbol;Acc:MGI:104687] |
| Ensembl ID | ENSMUSG00000067158 |
| Bio databases IDs | |
| Aliases | collagen, type IV, alpha 4 |
| Synonyms | [a]4(IV), ATS2, BFH, BFH1, CA44, collagen type IV alpha 4, collagen, type IV, alpha 4, collagen type IV alpha 4 chain, collagen, type IV, α 4, collagen type IV α 4 chain, E130010M05RIK, Procollagen iv alpha4 |
| 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 Col4a4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular matrix structural constituent
- Collagen triple helix repeat (20 copies)
- C-terminal tandem repeated domain in type 4 procollagen
Pathways
Biological processes and signaling networks where the Col4a4 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
- COVID-19
- Alport syndrome
- coronary artery disease
- autosomal dominant Alport syndrome
- autosomal recessive Alport syndrome
- thin basement membrane disease
- myocardial infarction
- type II Alport syndrome
- hereditary disorder
- Dupuytren contracture
role in cell
- activation in
- apoptosis
- expansion
- development
- elongation
- assembly
- differentiation
- expansion 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.
- Extracellular Space
- cell surface
- endoplasmic reticulum lumen
- basement membrane
- glomerular basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col4a4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glomerular basement membrane development
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- basement membrane
- extracellular region
- collagen type IV
Molecular Function
What the gene product does at the molecular level
- extracellular matrix structural constituent conferring tensile strength
- extracellular matrix structural constituent
- binding, bridging