Gene: COL9A2

Alternate names for this Gene: DJ39G22.4|EDM2|MED|STL5

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.2

Description of this Gene: collagen type IX alpha 2 chain

Type of Gene: protein-coding

rs1846158 in COL9A2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs137853213 in COL9A2 gene and Intervertebral disc disorder PMID 10411504 1999 An allele of COL9A2 associated with intervertebral disc disease.