Col1a2 Gene Summary [Mouse]
This gene encodes the alpha-2 subunit of the fibril-forming type I collagen, the most abundant protein of bone, skin and tendon extracellular matrices. The encoded protein, in association with alpha-1 subunit, forms heterotrimeric type I procollagen that undergoes proteolytic processing during fibril formation. Mice harboring certain mutations in the encoded gene exhibit symptoms of moderate to severe forms of osteogenesis imperfecta. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | Col1a2 |
| Official Name | collagen, type I, alpha 2 [Source:MGI Symbol;Acc:MGI:88468] |
| Ensembl ID | ENSMUSG00000029661 |
| Bio databases IDs | |
| Aliases | collagen, type I, alpha 2 |
| Synonyms | alpha2(I) COLLAGEN, alpha 2(I) COLLAGEN precursor, alpha2(I) PROCOLLAGEN, circCOL1A2, Col1 alpha 2, Col1 α 2, Cola-2, COLLAGEN 1 alpha2, COLLAGEN alpha 2(I), COLLAGEN alpha 2(I) CHAIN precursor, COLLAGEN alpha2 type1, COLLAGEN I, COLLAGEN I alpha2, COLLAGEN type1 alpha2, COLLAGEN type I alpha2, collagen, type I, alpha 2, collagen type I alpha 2 chain, COLLAGEN type I PRO alpha 2, COLLAGEN type I PRO α 2, collagen, type I, α 2, collagen type I α 2 chain, COLLAGEN α 2(I), COLLAGEN α 2(I) CHAIN precursor, EDSARTH2, EDSCV, LOC100911218, NEWGENE 621351, OI4, oim, Pro-alpha2(i)collagen, PROCOLLAGEN alpha2(I), Procollagen type1 alpha2 chain, Procollagen type 1, prepro-alpha2 chain, α 2(I) COLLAGEN precursor |
| 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 Col1a2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- triple helical domain
- Fibrillar collagen C-terminal domain
- C-propeptide domain
- protease binding
- protein binding activity, bridging
- Collagen triple helix repeat (20 copies)
- protein binding
- C-terminal telopeptide domain
- identical protein binding
- growth factor binding
- 8-9 Fibronectin conserved module type I binding sequence
Pathways
Biological processes and signaling networks where the Col1a2 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
- Apelin Liver Signaling Pathway
- Atherosclerosis Signaling
- Dendritic Cell Maturation
- FAK Signaling
- GP6 Signaling Pathway
- Hepatic Fibrosis / Hepatic Stellate Cell Activation
- IL-12 Signaling and Production in Macrophages
- IL-17A Signaling in Fibroblasts
- IL-4 Signaling
- Intrinsic Prothrombin Activation Pathway
- Natural Killer Cell Signaling
- RAR Activation
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- hepatic fibrosis
- osteogenesis imperfecta type III
- organismal death
- osteogenesis imperfecta type IVB
- osteogenesis imperfecta type I
- Dupuytren contracture
- osteogenesis imperfecta
- diabetic nephropathy
- osteoporosis
phenotypes
- abnormal femur morphology
- abnormal radius morphology
- abnormal tibia morphology
- abnormal ulna morphology
- decreased blood urea nitrogen level
- decreased grip strength
- decreased lymphocyte cell number
- decreased mean platelet volume
- decreased prepulse inhibition
- decreased total body fat amount
- developmental and structural abnormality
- dilated heart left ventricle
- enlarged heart
- enlarged spleen
- increased bone mineral content
- increased bone mineral density
- increased circulating alkaline phosphatase level
- increased heart weight
- increased large unstained cell number
- increased leukocyte cell number
- increased neutrophil cell number
- increased spleen weight
- short tibia
- abnormal blood urea nitrogen level
- abnormal bone mineralization
- abnormal caudal vertebrae morphology
- abnormal circulating alkaline phosphatase level
- abnormal compact bone lamellar structure
- abnormal compact bone morphology
- abnormal dermal layer morphology
- abnormal forelimb morphology
- abnormal gait
- abnormal joint morphology
- abnormal knee joint morphology
- abnormal long bone morphology
- abnormal prepulse inhibition
- abnormal skin morphology
- abnormal tendon morphology
- camptomelia
- decreased body size
- decreased body weight
- decreased bone mineral content
- decreased bone mineral density
- decreased bone strength
- decreased bone trabecula number
- decreased bone volume
- decreased compact bone area
- decreased compact bone thickness
- decreased tendon stiffness
- fragile skeleton
- hemorrhage
- increased osteocyte number
- increased volumetric bone mineral density
- kyphosis
- no abnormal phenotype detected
- perinatal lethality complete penetrance
- preweaning lethality complete penetrance
- scoliosis
role in cell
- growth
- expression in
- proliferation
- dilation
- assembly
- organization
- number
- pyroptosis
- production in
- structural integrity
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
- extracellular matrix
- cellular protrusions
- cell membrane leading edge
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col1a2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- bone mineralization
- transforming growth factor beta receptor signaling pathway
- extracellular matrix assembly
- odontogenesis
- Rho protein signal transduction
- skin morphogenesis
- regulation of blood pressure
- cellular response to amino acid stimulus
- skeletal system development
- blood vessel development
- extracellular matrix organization
- collagen fibril organization
- protein heterotrimerization
- collagen metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- extracellular vesicular exosome
- collagen type I
- extracellular region
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- SMAD binding
- metal ion binding
- extracellular matrix structural constituent conferring tensile strength
- protease binding
- extracellular matrix structural constituent
- protein binding, bridging
- platelet-derived growth factor binding