COL9A2 Gene Summary [Human]
This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | COL9A2 |
| Official Name | collagen type IX alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2218] |
| Ensembl ID | ENSG00000049089 |
| Bio databases IDs | |
| Aliases | collagen type IX alpha 2 chain |
| Synonyms | collagen, type IX, alpha 2, collagen type IX alpha 2 chain, collagen, type IX, α 2, collagen type IX α 2 chain, DJ39G22.4, EDM2, MED, STL5 |
| 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 COL9A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein homodimerization
- Collagen triple helix repeat (20 copies)
- protein binding
Pathways
Biological processes and signaling networks where the COL9A2 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
- Dupuytren contracture
- hereditary arthro-ophthalmopathy
- Peyronie disease
- multiple epiphyseal dysplasia 2
- diabetic foot ulcer disorder
- diabetes mellitus
- burn
- cellulite of the buttocks
- mental retardation
- Stickler syndrome V
role in cell
- hypertrophy
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
- Cytoplasm
- endoplasmic reticulum lumen
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COL9A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal system development
- extracellular matrix organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- collagen type IX
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- protein binding
- extracellular matrix structural constituent conferring tensile strength