COL11A2 (gene)

Collagen, type XI, alpha 2, also known as COL11A2, is a human gene.cite web | title = Entrez Gene: COL11A2 collagen, type XI, alpha 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1302| accessdate = ]

PBB_Summary
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summary_text = 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.cite web | title = Entrez Gene: COL11A2 collagen, type XI, alpha 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1302| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Kuivaniemi H, Tromp G, Prockop DJ |title=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. |journal=Hum. Mutat. |volume=9 |issue= 4 |pages= 300–15 |year= 1997 |pmid= 9101290 |doi= 10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9 |doilabel=10.1002/(SICI)1098-1004(1997)9:4300::AID-HUMU23.0.CO;2-9
*cite journal | author=Van Camp G, Willems PJ, Smith RJ |title=Nonsyndromic hearing impairment: unparalleled heterogeneity. |journal=Am. J. Hum. Genet. |volume=60 |issue= 4 |pages= 758–64 |year= 1997 |pmid= 9106521 |doi=
*cite journal | author=Hanson IM, Gorman P, Lui VC, "et al." |title=The human alpha 2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex on chromosome 6. |journal=Genomics |volume=5 |issue= 4 |pages= 925–31 |year= 1990 |pmid= 2591970 |doi=
*cite journal | author=Kimura T, Cheah KS, Chan SD, "et al." |title=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. |journal=J. Biol. Chem. |volume=264 |issue= 23 |pages= 13910–6 |year= 1989 |pmid= 2760050 |doi=
*cite journal | author=Vuristo MM, Pihlajamaa T, Vandenberg P, "et al." |title=The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens. |journal=J. Biol. Chem. |volume=270 |issue= 39 |pages= 22873–81 |year= 1995 |pmid= 7559422 |doi=
*cite journal | author=Keene DR, Oxford JT, Morris NP |title=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. |journal=J. Histochem. Cytochem. |volume=43 |issue= 10 |pages= 967–79 |year= 1995 |pmid= 7560887 |doi=
*cite journal | author=Zhidkova NI, Justice SK, Mayne R |title=Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains. |journal=J. Biol. Chem. |volume=270 |issue= 16 |pages= 9486–93 |year= 1995 |pmid= 7721876 |doi=
*cite journal | author=Tsumaki N, Kimura T |title=Differential expression of an acidic domain in the amino-terminal propeptide of mouse pro-alpha 2(XI) collagen by complex alternative splicing. |journal=J. Biol. Chem. |volume=270 |issue= 5 |pages= 2372–8 |year= 1995 |pmid= 7836472 |doi=
*cite journal | author=Vikkula M, Mariman EC, Lui VC, "et al." |title=Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. |journal=Cell |volume=80 |issue= 3 |pages= 431–7 |year= 1995 |pmid= 7859284 |doi=
*cite journal | author=Zhidkova NI, Brewton RG, Mayne R |title=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. |journal=FEBS Lett. |volume=326 |issue= 1-3 |pages= 25–8 |year= 1993 |pmid= 8325374 |doi=
*cite journal | author=Lui VC, Ng LJ, Sat EW, "et al." |title=Extensive alternative splicing within the amino-propeptide coding domain of alpha2(XI) procollagen mRNAs. Expression of transcripts encoding truncated pro-alpha chains. |journal=J. Biol. Chem. |volume=271 |issue= 28 |pages= 16945–51 |year= 1996 |pmid= 8663204 |doi=
*cite journal | author=Lui VC, Ng LJ, Sat EW, Cheah KS |title=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. |journal=Genomics |volume=32 |issue= 3 |pages= 401–12 |year= 1997 |pmid= 8838804 |doi= 10.1006/geno.1996.0135
*cite journal | author=van Steensel MA, Buma P, de Waal Malefijt MC, "et al." |title=Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. |journal=Am. J. Med. Genet. |volume=70 |issue= 3 |pages= 315–23 |year= 1997 |pmid= 9188673 |doi=
*cite journal | author=Sirko-Osadsa DA, Murray MA, Scott JA, "et al." |title=Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. |journal=J. Pediatr. |volume=132 |issue= 2 |pages= 368–71 |year= 1998 |pmid= 9506662 |doi=
*cite journal | author=Koga H, Sakou T, Taketomi E, "et al." |title=Genetic mapping of ossification of the posterior longitudinal ligament of the spine. |journal=Am. J. Hum. Genet. |volume=62 |issue= 6 |pages= 1460–7 |year= 1998 |pmid= 9585596 |doi=
*cite journal | author=Pihlajamaa T, Prockop DJ, Faber J, "et al." |title=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). |journal=Am. J. Med. Genet. |volume=80 |issue= 2 |pages= 115–20 |year= 1999 |pmid= 9805126 |doi=
*cite journal | author=McGuirt WT, Prasad SD, Griffith AJ, "et al." |title=Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). |journal=Nat. Genet. |volume=23 |issue= 4 |pages= 413–9 |year= 1999 |pmid= 10581026 |doi= 10.1038/70516
*cite journal | author=Melkoniemi M, Brunner HG, Manouvrier S, "et al." |title=Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. |journal=Am. J. Hum. Genet. |volume=66 |issue= 2 |pages= 368–77 |year= 2000 |pmid= 10677296 |doi=

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