Gene: COL9A3

Alternate names for this Gene: DJ885L7.4.1|EDM3|IDD|MED

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. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.33

Description of this Gene: collagen type IX alpha 3 chain

Type of Gene: protein-coding

rs66658258 in COL9A3 gene and Diastolic blood pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs1390736361 in COL9A3 gene and EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 PMID 10090888 1999 COL9A3: A third locus for multiple epiphyseal dysplasia.

PMID 25381065 2014 Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.

rs66658258 in COL9A3 gene and Mean blood pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs66658258 in COL9A3 gene and Systolic Pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs61734651 in COL9A3 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.