Misplaced Pages

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) Band 20q13.33 Start 62,816,244 bp End 62,841,159 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 H4|2 103.14 cM Start 180,239,583 bp End 180,263,982 bp
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
Wikidata
View/Edit Human View/Edit Mouse

Collagen alpha-3(IX) chain is a protein that in humans is encoded by the COL9A3 gene.

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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000092758 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000027570 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Brewton RG, Wood BM, Ren ZX, Gong Y, Tiller GE, Warman ML, Lee B, Horton WA, Olsen BR, Baker JR, et al. (Mar 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. doi:10.1006/geno.1995.9870. PMID 8586434.
6. Wu JJ, Woods PE, Eyre DR (Dec 1992). "Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding". J Biol Chem. 267 (32): 23007–14. doi:10.1016/S0021-9258(18)50048-X. PMID 1429648.
7. ^ "Entrez Gene: COL9A3 collagen, type IX, alpha 3".

External links

• GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant

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. doi:10.1002/j.1460-2075.1987.tb02590.x. PMC 553721. 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. Bibcode:1987PNAS...84.4044M. doi:10.1073/pnas.84.12.4044. PMC 305018. PMID 3473493.
• Richardson GP, Russell IJ, Duance VC, Bailey AJ (1987). "Polypeptide composition of the mammalian tectorial membrane". Hear. Res. 25 (1): 45–60. doi:10.1016/0378-5955(87)90078-5. PMID 3542919. S2CID 42559806.
• 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) (Pt 1): 209–16. doi:10.1042/bj3240209. PMC 1218418. 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. doi:10.1086/302328. PMC 1377827. 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. doi:10.1074/jbc.274.32.22469. 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. Bibcode:2000PNAS...97.1212B. doi:10.1073/pnas.97.3.1212. PMC 15572. 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. doi:10.1002/(SICI)1096-8628(20000131)90:3<216::AID-AJMG6>3.0.CO;2-1. 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. doi:10.1001/jama.285.14.1843. 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. doi:10.1086/324023. PMC 1274373. 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. doi:10.1021/bi0109109. 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. Bibcode:2001Natur.414..865D. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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. doi:10.1016/S0945-053X(02)00102-6. 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. PMC 528928. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

This article on a gene on human chromosome 20 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 20
• Collagens
• Human chromosome 20 gene stubs