Col12a1 Gene Summary [Mouse]
Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in endodermal cell differentiation. Located in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including connective tissue; mitral valve; sensory organ; skeleton; and skin. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 2. Orthologous to human COL12A1 (collagen type XII alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Col12a1 |
| Official Name | collagen, type XII, alpha 1 [Source:MGI Symbol;Acc:MGI:88448] |
| Ensembl ID | ENSMUSG00000032332 |
| Bio databases IDs | |
| Aliases | collagen, type XII, alpha 1 |
| Synonyms | AW743884, BA209D8.1, BTHLM2, COCA1, COL12A1L, COLLAGEN12, collagen, type XII, alpha 1, collagen type XII alpha 1 chain, collagen, type XII, α 1, collagen type XII α 1 chain, Col xii, DJ234P15.1, EDSMYP, UCMD2 |
| 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 Col12a1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- von Willebrand factor (vWF) type A domain
- LamG
- FN3
- vWFA
- Purple acid Phosphatase, N-terminal domain
- extracellular matrix structural constituent
- Collagen triple helix repeat (20 copies)
- von Willebrand factor type A domain
- Fibronectin type 3 domain
Pathways
Biological processes and signaling networks where the Col12a1 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
- endometriosis
- diabetic foot ulcer disorder
- Dupuytren contracture
- kyphoscoliosis
- Bethlem myopathy type 2
- hereditary disorder
- organismal death
- preeclampsia
- aortic valve calcification
- early onset hypertension
role in cell
- expression in
- migration
- proliferation
- function
- abnormal morphology
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
- pH resistant lipid raft fraction
- endoplasmic reticulum lumen
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col12a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endodermal cell differentiation
- cell adhesion
- collagen fibril organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- extracellular vesicular exosome
- collagen type XII
- extracellular region
Molecular Function
What the gene product does at the molecular level
- extracellular matrix structural constituent conferring tensile strength