Col2a1 Gene Summary [Mouse]
This gene encodes the alpha-1 subunit of the fibril-forming type II collagen, the major component of cartilage and the vitreous humor of the eye. The encoded preproprotein forms homotrimeric, triple helical procollagen that undergoes proteolytic processing during fibirl formation. Mice harboring certain mutations in this gene exhibit severe chondrodysplasia characterized by short limbs and trunch, craniofacial deformities and cleft palate. A complete lack of the encoded protein in mice results in postnatal lethality. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | Col2a1 |
| Official Name | collagen, type II, alpha 1 [Source:MGI Symbol;Acc:MGI:88452] |
| Ensembl ID | ENSMUSG00000022483 |
| Bio databases IDs | |
| Aliases | collagen, type II, alpha 1 |
| Synonyms | ANFH, AOM, CG2A1A, COL11A3, COL2, Col2a, Collagen II, Collagen type2 α, Collagen type II, Collagen type iia, collagen, type II, alpha 1, collagen type II alpha 1 chain, Collagen type ii α, collagen, type II, α 1, collagen type II α 1 chain, COLLII, Del1, Dmm, Lpk, M100413, Rgsc413, Rgsc856, SEDC, STL1, type II COLLAGEN |
| 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 Col2a1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MHC class II protein binding
- amino-propeptide domain
- protein binding
- identical protein binding
- triple helical domain
- von Willebrand factor type C domain
- binding protein
- Fibrillar collagen C-terminal domain
- nontriple helical telopeptide domain
- protein homodimerization
- Collagen triple helix repeat (20 copies)
- D-periodic repeat of collagen
- GFOGER motif
- growth factor binding
Pathways
Biological processes and signaling networks where the Col2a1 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
- neoplasia
- diabetes mellitus
- achondrogenesis type II
- hereditary arthro-ophthalmopathy
- hereditary disorder
- Stickler syndrome type 1
- spondyloepimetaphyseal dysplasia, short ulna type
- Dupuytren contracture
- myopia
- spondyloepiphyseal dysplasia
phenotypes
- abnormal anterior eye segment morphology
- abnormal articular cartilage morphology
- abnormal autopod morphology
- abnormal axial skeleton morphology
- abnormal basicranium morphology
- abnormal bone marrow cavity morphology
- abnormal bone ossification
- abnormal bone structure
- abnormal brain development
- abnormal cartilage development
- abnormal cartilage morphology
- abnormal chest morphology
- abnormal chondrocyte morphology
- abnormal chondrocyte physiology
- abnormal ciliary process morphology
- abnormal cranial ganglia morphology
- abnormal craniofacial bone morphology
- abnormal cranium morphology
- abnormal diencephalon morphology
- abnormal digestive system physiology
- abnormal elbow joint morphology
- abnormal endochondral bone ossification
- abnormal epiphyseal plate morphology
- abnormal eye development
- abnormal forebrain development
- abnormal forebrain morphology
- abnormal forelimb morphology
- abnormal head morphology
- abnormal head shape
- abnormal heart valve morphology
- abnormal hindlimb morphology
- abnormal hyoid bone morphology
- abnormal joint mobility
- abnormal lens morphology
- abnormal limb bone morphology
- abnormal limb long bone morphology
- abnormal limb morphology
- abnormal long bone epiphyseal ossification zone morphology
- abnormal long bone epiphyseal plate morphology
- abnormal long bone epiphyseal plate proliferative zone
- abnormal long bone epiphysis morphology
- abnormal long bone hypertrophic chondrocyte zone
- abnormal long bone metaphysis morphology
- abnormal long bone morphology
- abnormal lung volume
- abnormal mesendoderm development
- abnormal neural tube morphology
- abnormal neurocranium morphology
- abnormal optic vesicle formation
- abnormal pelvic girdle bone morphology
- abnormal phalanx morphology
- abnormal posterior eye segment morphology
- abnormal postnatal growth/weight/body size
- abnormal pulmonary alveolus morphology
- abnormal rib morphology
- abnormal scapula morphology
- abnormal skeleton development
- abnormal skeleton morphology
- abnormal skeleton physiology
- abnormal snout morphology
- abnormal tail morphology
- abnormal thoracic cage morphology
- abnormal trabecular bone morphology
- abnormal ulna morphology
- abnormal vertebrae development
- abnormal vertebrae morphology
- abnormal vertebral arch morphology
- abnormal vertebral body morphology
- absent intervertebral disk
- absent nasal cavity
- absent nasal septum
- absent palatal shelf
- brachydactyly
- chondrodystrophy
- cleft palate
- cleft secondary palate
- cyanosis
- cyclopia
- decreased body length
- decreased body size
- decreased body weight
- decreased bone mineral density
- decreased bone trabecula number
- decreased bone volume
- decreased chondrocyte proliferation
- decreased embryo size
- decreased fetal size
- decreased length of long bones
- decreased percent body fat/body weight
- decreased trabecular bone volume
- decreased width of hypertrophic chondrocyte zone
- delayed endochondral bone ossification
- disorganized long bone epiphyseal plate
- disorganized retinal layers
- disproportionate dwarf
- distended abdomen
- domed cranium
- enlarged vertebral body
- enophthalmos
- head bobbing
- holoprosencephaly
- impaired hearing
- increased body weight
- increased chondrocyte apoptosis
- increased compact bone thickness
- increased cranium length
- increased diameter of femur
- increased diameter of fibula
- increased diameter of humerus
- increased diameter of long bones
- increased diameter of radius
- increased diameter of tibia
- increased diameter of ulna
- increased long bone epiphyseal plate size
- increased percent body fat/body weight
- increased renal plasma flow rate
- kidney hemorrhage
- maxilla hypoplasia
- microcephaly
- micromelia
- midface hypoplasia
- nasal bone hypoplasia
- neonatal lethality complete penetrance
- neonatal lethality incomplete penetrance
- no abnormal phenotype detected
- perinatal lethality complete penetrance
- persistence of notochord tissue
- platyspondylia
- postnatal lethality incomplete penetrance
- premaxilla hypoplasia
- prenatal lethality incomplete penetrance
- proboscis
- prominent forehead
- pulmonary hypoplasia
- radius hypoplasia
- respiratory distress
- retrognathia
- seizures
- short facial bone
- short femur
- short fibula
- short humerus
- short limbs
- short lumbar vertebrae
- short mandible
- short nasal bone
- short radius
- short ribs
- short snout
- short tibia
- short ulna
- short vertebral column
- shortened head
- small cranium
- small thoracic cage
- spinning
- vertebral body hypoplasia
role in cell
- cell death
- apoptosis
- expression in
- proliferation
- growth
- differentiation
- invasion
- adhesion
- quantity
- 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
- interterritorial matrix
- Cytoplasm
- cell-associated matrix
- endoplasmic reticulum lumen
- extracellular matrix
- plasma
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Col2a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- palate development
- chondrocyte differentiation
- extrinsic apoptotic signaling pathway in absence of ligand
- proteoglycan metabolic process
- sensory perception of sound
- heart morphogenesis
- skeletal system development
- cartilage condensation
- notochord development
- cellular response to BMP stimulus
- otic vesicle development
- negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
- embryonic skeletal joint morphogenesis
- limb bud formation
- cartilage development involved in endochondral bone morphogenesis
- visual perception
- anterior head development
- tissue homeostasis
- central nervous system development
- inner ear morphogenesis
- regulation of gene expression
- endochondral ossification
- collagen fibril organization
- cartilage development
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- basement membrane
- collagen type XI
- collagen type II
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- proteoglycan binding
- metal ion binding
- extracellular matrix structural constituent conferring tensile strength
- MHC class II protein binding
- platelet-derived growth factor binding