COL9A3

Collagen, type IX, alpha 3
Identifiers
Symbols	COL9A3 ; MED; DJ885L7.4.1; EDM3; FLJ90759; IDD
External IDs	Template:OMIM5 Template:MGI HomoloGene: 20438
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Collagen, type IX, alpha 3, also known as COL9A3, is a human 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. Mutations in this gene are associated with multiple epiphyseal dysplasia.

Further reading

• Fahrig T, Landa C, Pesheva P; et al. (1988). "Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents". EMBO J. 6 (10): 2875–83. PMID 2446864.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McCormick D, van der Rest M, Goodship J; et al. (1987). "Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan". Proc. Natl. Acad. Sci. U.S.A. 84 (12): 4044–8. PMID 3473493.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Richardson GP, Russell IJ, Duance VC, Bailey AJ (1987). "Polypeptide composition of the mammalian tectorial membrane". Hear. Res. 25 (1): 45–60. PMID 3542919.CS1 maint: Multiple names: authors list (link)
• Brewton RG, Wood BM, Ren ZX; et al. (1996). "Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3". Genomics. 30 (2): 329–36. PMID 8586434.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Perälä M, Savontaus M, Metsäranta M, Vuorio E (1997). "Developmental regulation of mRNA species for types II, IX and XI collagens during mouse embryogenesis". Biochem. J. 324 ( Pt 1): 209–16. PMID 9164858.CS1 maint: Multiple names: authors list (link)
• Paassilta P, Lohiniva J, Annunen S; et al. (2000). "COL9A3: A third locus for multiple epiphyseal dysplasia". Am. J. Hum. Genet. 64 (4): 1036–44. PMID 10090888.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Paassilta P, Pihlajamaa T, Annunen S; et al. (1999). "Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants". J. Biol. Chem. 274 (32): 22469–75. PMID 10428822.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bönnemann CG, Cox GF, Shapiro F; et al. (2000). "A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy". Proc. Natl. Acad. Sci. U.S.A. 97 (3): 1212–7. PMID 10655510.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lohiniva J, Paassilta P, Seppänen U; et al. (2000). "Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia". Am. J. Med. Genet. 90 (3): 216–22. PMID 10678658.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Paassilta P, Lohiniva J, Göring HH; et al. (2001). "Identification of a novel common genetic risk factor for lumbar disk disease". JAMA. 285 (14): 1843–9. PMID 11308397.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Czarny-Ratajczak M, Lohiniva J, Rogala P; et al. (2001). "A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity". Am. J. Hum. Genet. 69 (5): 969–80. PMID 11565064.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fertala A, Sieron AL, Adachi E, Jimenez SA (2002). "Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX". Biochemistry. 40 (48): 14422–8. PMID 11724554.CS1 maint: Multiple names: authors list (link)
• Deloukas P, Matthews LH, Ashurst J; et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Matsui Y, Wu JJ, Weis MA; et al. (2004). "Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage". Matrix Biol. 22 (2): 123–9. PMID 12782139.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Asamura K, Abe S, Fukuoka H; et al. (2005). "Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients". Auris, nasus, larynx. 32 (2): 113–7. doi:10.1016/j.anl.2005.01.011. PMID 15917166.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)