COL9A3

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Collagen, type IX, alpha 3
Identifiers
Symbols COL9A3 ; MED; DJ885L7.4.1; EDM3; FLJ90759; IDD
External IDs OMIM: 120270 MGI894686 HomoloGene20438
RNA expression pattern
PBB GE COL9A3 204724 s at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 1299
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 12841

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000092758
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000027570

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q14050
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| na

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_001853 (mRNA)
NP_001844 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_009936 (mRNA)
NP_034066 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 20: 60.92 - 60.94 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 2: 180.53 -  180.55 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
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.[1]

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.[1]

References

  1. 1.0 1.1 "Entrez Gene: COL9A3 collagen, type IX, alpha 3".

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.
  • 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.
  • Richardson GP, Russell IJ, Duance VC, Bailey AJ (1987). "Polypeptide composition of the mammalian tectorial membrane". Hear. Res. 25 (1): 45–60. PMID 3542919.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

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