COL11A2 (gene)

Collagen, type XI, alpha 2
Identifiers
Symbols	COL11A2 ; PARP; DFNA13; DFNB53; HKE5; STL3
External IDs	Template:OMIM5 Template:MGI HomoloGene: 22547
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO 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 XI, alpha 2, also known as COL11A2, is a human gene.

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, and autosomal dominant nonsyndromic sensorineural 13 deafness. Three transcript variants encoding different isoforms have been identified for this gene.

Further reading

• Kuivaniemi H, Tromp G, Prockop DJ (1997). "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels". Hum. Mutat. 9 (4): 300–15. doi:10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9. PMID 9101290.CS1 maint: Multiple names: authors list (link)
• Van Camp G, Willems PJ, Smith RJ (1997). "Nonsyndromic hearing impairment: unparalleled heterogeneity". Am. J. Hum. Genet. 60 (4): 758–64. PMID 9106521.CS1 maint: Multiple names: authors list (link)
• Hanson IM, Gorman P, Lui VC; et al. (1990). "The human alpha 2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex on chromosome 6". Genomics. 5 (4): 925–31. PMID 2591970.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kimura T, Cheah KS, Chan SD; et al. (1989). "The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization". J. Biol. Chem. 264 (23): 13910–6. PMID 2760050.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Vuristo MM, Pihlajamaa T, Vandenberg P; et al. (1995). "The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens". J. Biol. Chem. 270 (39): 22873–81. PMID 7559422.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Keene DR, Oxford JT, Morris NP (1995). "Ultrastructural localization of collagen types II, IX, and XI in the growth plate of human rib and fetal bovine epiphyseal cartilage: type XI collagen is restricted to thin fibrils". J. Histochem. Cytochem. 43 (10): 967–79. PMID 7560887.CS1 maint: Multiple names: authors list (link)
• Zhidkova NI, Justice SK, Mayne R (1995). "Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains". J. Biol. Chem. 270 (16): 9486–93. PMID 7721876.CS1 maint: Multiple names: authors list (link)
• Tsumaki N, Kimura T (1995). "Differential expression of an acidic domain in the amino-terminal propeptide of mouse pro-alpha 2(XI) collagen by complex alternative splicing". J. Biol. Chem. 270 (5): 2372–8. PMID 7836472.
• Vikkula M, Mariman EC, Lui VC; et al. (1995). "Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus". Cell. 80 (3): 431–7. PMID 7859284.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zhidkova NI, Brewton RG, Mayne R (1993). "Molecular cloning of PARP (proline/arginine-rich protein) from human cartilage and subsequent demonstration that PARP is a fragment of the NH2-terminal domain of the collagen alpha 2(XI) chain". FEBS Lett. 326 (1–3): 25–8. PMID 8325374.CS1 maint: Multiple names: authors list (link)
• Lui VC, Ng LJ, Sat EW; et al. (1996). "Extensive alternative splicing within the amino-propeptide coding domain of alpha2(XI) procollagen mRNAs. Expression of transcripts encoding truncated pro-alpha chains". J. Biol. Chem. 271 (28): 16945–51. PMID 8663204.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lui VC, Ng LJ, Sat EW, Cheah KS (1997). "The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene". Genomics. 32 (3): 401–12. doi:10.1006/geno.1996.0135. PMID 8838804.CS1 maint: Multiple names: authors list (link)
• van Steensel MA, Buma P, de Waal Malefijt MC; et al. (1997). "Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene". Am. J. Med. Genet. 70 (3): 315–23. PMID 9188673.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sirko-Osadsa DA, Murray MA, Scott JA; et al. (1998). "Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen". J. Pediatr. 132 (2): 368–71. PMID 9506662.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Koga H, Sakou T, Taketomi E; et al. (1998). "Genetic mapping of ossification of the posterior longitudinal ligament of the spine". Am. J. Hum. Genet. 62 (6): 1460–7. PMID 9585596.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pihlajamaa T, Prockop DJ, Faber J; et al. (1999). "Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)". Am. J. Med. Genet. 80 (2): 115–20. PMID 9805126.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McGuirt WT, Prasad SD, Griffith AJ; et al. (1999). "Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)". Nat. Genet. 23 (4): 413–9. doi:10.1038/70516. PMID 10581026.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Melkoniemi M, Brunner HG, Manouvrier S; et al. (2000). "Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene". Am. J. Hum. Genet. 66 (2): 368–77. PMID 10677296.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)