Col6a2 Gene Summary [Mouse]
Predicted to enable collagen binding activity. Acts upstream of or within neuron apoptotic process; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and response to UV. Located in extracellular matrix and sarcolemma. Is expressed in several structures, including cardiovascular system; central nervous system; extraembryonic component; gut; and reproductive system. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 1B. Orthologous to human COL6A2 (collagen type VI alpha 2 chain). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Col6a2 |
| Official Name | collagen, type VI, alpha 2 [Source:MGI Symbol;Acc:MGI:88460] |
| Ensembl ID | ENSMUSG00000020241 |
| Bio databases IDs | |
| Aliases | collagen, type VI, alpha 2 |
| Synonyms | BTHLM1, BTHLM1B, COL6A2 isoform 1, collagen, type VI, alpha 2, collagen type VI alpha 2 chain, collagen, type VI, α 2, collagen type VI α 2 chain, PP3610, PROCOLLAGEN type VI alpha2, UCMD1, UCMD1B |
| 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 Col6a2 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 conferring tensile strength
- triple helical domain
- von Willebrand factor (vWF) type A domain
- vWFA
- collagen binding
- Collagen triple helix repeat (20 copies)
- protein binding
- von Willebrand factor type A domain
Pathways
Biological processes and signaling networks where the Col6a2 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
- hepatocellular carcinoma
- epithelial cancer
- cancer
- colorectal cancer
- Ullrich congenital muscular dystrophy
- lymphomagenesis
- cutaneous melanoma
- cutaneous melanoma cancer
- Bethlem myopathy type 1
- myosclerosis myopathy
role in cell
- expression in
- apoptosis
- proliferation
- growth
- assembly 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
- cellular membrane
- lipid droplets
- endoplasmic reticulum lumen
- sarcolemma
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col6a2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to glucose stimulus
- protein kinase B signaling cascade
- response to UV
- cell adhesion
- neuron apoptotic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- extracellular vesicular exosome
- collagen
- sarcolemma
- macromolecular complex
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- collagen binding
- extracellular matrix structural constituent conferring tensile strength