COL2A1 Gene Summary [Human]
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | COL2A1 |
| Official Name | collagen type II alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2200] |
| Ensembl ID | ENSG00000139219 |
| Bio databases IDs | |
| Aliases | collagen type II alpha 1 chain |
| 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 | Human, Homo sapiens |
| 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 human 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 human 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
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 human 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