Collagen, type IX, alpha 3

Collagen alpha-3(IX) chain is a protein that in humans is encoded by the COL9A3 gene.^[5][6][7]

COL9A3
Identifiers
Aliases	COL9A3, DJ885L7.4.1, EDM3, IDD, MED, collagen type IX alpha 3, collagen type IX alpha 3 chain
External IDs	OMIM: 120270; MGI: 894686; HomoloGene: 20438; GeneCards: COL9A3; OMA:COL9A3 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.33 Start 62,816,244 bp[1] End 62,841,159 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H4|2 103.14 cM Start 180,239,583 bp[2] End 180,263,982 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia cartilage tissue inferior ganglion of vagus nerve C1 segment trigeminal ganglion tibial nerve sural nerve internal globus pallidus putamen subthalamic nucleus Top expressed in fossa vestibular sensory epithelium condyle choroid plexus of fourth ventricle Epithelium of choroid plexus saccule occiput occipital bone toe retinal pigment epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function extracellular matrix structural constituent conferring tensile strength extracellular matrix structural constituent Cellular component collagen type IX trimer extracellular region collagen endoplasmic reticulum lumen extracellular space extracellular matrix collagen-containing extracellular matrix Biological process male gonad development extracellular matrix organization female gonad development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1299 12841 Ensembl ENSG00000092758 ENSMUSG00000027570 UniProt Q14050 n/a RefSeq (mRNA) NM_001853 NM_009936 NM_001378777 RefSeq (protein) NP_001844 n/a Location (UCSC) Chr 20: 62.82 – 62.84 Mb Chr 2: 180.24 – 180.26 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[7]