Aliases for COL9A2 Gene
External Ids for COL9A2 Gene
Previous HGNC Symbols for COL9A2 Gene
Previous GeneCards Identifiers for COL9A2 Gene
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]
GeneCards Summary for COL9A2 Gene
COL9A2 (Collagen Type IX Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL9A2 include Stickler Syndrome, Type V and Epiphyseal Dysplasia, Multiple, 2. Among its related pathways are ERK Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL4A4.
UniProtKB/Swiss-Prot Summary for COL9A2 Gene
Structural component of hyaline cartilage and vitreous of the eye.