Col4a6 Gene Summary [Mouse]
An extracellular matrix structural constituent. Acts upstream of or within cellular response to amino acid stimulus; collagen-activated tyrosine kinase receptor signaling pathway; and extracellular matrix organization. Located in basement membrane. Part of collagen type IV trimer. Is expressed in several structures, including bone; meninges; oral region epithelium; sensory organ; and trunk. Human ortholog(s) of this gene implicated in X-linked deafness 6. Orthologous to human COL4A6 (collagen type IV alpha 6 chain). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Col4a6 |
| Official Name | collagen, type IV, alpha 6 [Source:MGI Symbol;Acc:MGI:2152695] |
| Ensembl ID | ENSMUSG00000031273 |
| Bio databases IDs | |
| Aliases | collagen, type IV, alpha 6 |
| Synonyms | AL691493.3, collagen, type IV, alpha 6, collagen type IV alpha 6 chain, collagen, type IV, α 6, collagen type IV α 6 chain, CXDELq22.3, DELXq22.3, DFNX6 |
| 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 Col4a6 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
- protein binding
Pathways
Biological processes and signaling networks where the Col4a6 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
- rheumatoid arthritis
- Peyronie disease
- cellulite of the buttocks
- Dupuytren contracture
- burn
- X-linked deafness type 6
- colorectal cancer
- cholesteatoma
- diabetic foot ulcer disorder
- uterine serous papillary cancer
role in cell
- organization
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 Col4a6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to amino acid stimulus
- extracellular matrix organization
- cell adhesion
- collagen-activated tyrosine kinase receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- basement membrane
- extracellular space
- collagen type IV
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- extracellular matrix structural constituent conferring tensile strength