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Target intelligence / Profile preview
Collagen type IX alpha-2 chain (COL9A2)
- Target
- COL9A2
- Molecular classification
- Extracellular matrix protein, Structural protein, Collagen family (heterotrimeric collagens)
01
Overview
Collagen type IX alpha-2 chain is a protein encoded by the COL9A2 gene, one of three distinct chains that form type IX collagen—a heterotrimeric molecule found notably in hyaline cartilage and the vitreous body of the eye. The alpha-2 chain (COL9A2) is unique among type IX collagen chains for containing a covalently attached glycosaminoglycan (chondroitin sulfate) side chain. Type IX collagen acts as a connecting bridge within the cartilage matrix and stabilizes its association with type II collagen, contributing critically to the structural integrity and flexibility of cartilage. Mutations in COL9A2 are associated with hereditary cartilage disorders including multiple epiphyseal dysplasia and Stickler syndrome type V, reflecting its essential role in skeletal development and maintenance
- Other names
- Collagen alpha-2(IX) chainCOL9A2EDM2DJ39G22.4MEDSTL5CO9A2_HUMANCollagen IX, alpha-2 polypeptideCollagen, type IX, alpha 2alpha 2 type IX collagen
02
Mechanism of action
Not applicable—no drugs directly target this molecule. Disease relevance primarily relates to inherited genetic mutations that alter protein function
03
Biological functions
Structural component of hyaline cartilage and vitreous body in the eyeContributes to tensile strength and flexibility of cartilageConnects type II collagen with other matrix components, acting as a bridge in cartilageContains a glycosaminoglycan side chain (unique among type IX collagen chains)
04
Disease associations
Multiple epiphyseal dysplasia (dominant, due to splice-site mutations)Stickler syndrome type VIntervertebral disc disease and disc degenerationEpiphyseal dysplasia, multiple, type 2
05
Safety considerations
Mutations in COL9A2 can lead to abnormal cartilage and bone development, causing joint pain, early-onset arthritis, skeletal abnormalities, and vision or hearing problems in affected syndromesNo safety concerns related to therapeutic modulation, as it is not currently a drug target.
06
Biomarkers
Genetic testing for COL9A2 mutations can be used as a diagnostic biomarker for multiple epiphyseal dysplasia, Stickler syndrome type V, and some forms of intervertebral disc disease
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