Genomes and Genes
Gene Symbol: Col11a2
Description: collagen, type XI, alpha 2
Alias: collagen alpha-2(XI) chain, procollagen, type XI, alpha 2
- Vikkula M, Mariman E, Lui V, Zhidkova N, Tiller G, Goldring M, et al. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell. 1995;80:431-7 pubmed..involvement, is caused by a splice donor site mutation resulting in "in-frame" exon skipping within the COL11A2 gene, encoding the alpha 2(XI) chain of the quantitatively minor fibrillar collagen XI...
- Lui V, Ng L, Sat E, Nicholls J, Cheah K. 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. 1996;271:16945-51 pubmed
- Stubbs L, Lui V, Ng L, Cheah K. The alpha 2(XI) collagen gene lies within 8 kb of Pb in the proximal portion of the murine major histocompatibility complex. Mamm Genome. 1993;4:95-103 pubmed..primarily in hyaline cartilage, we have used human probes for the gene encoding the protein's alpha 2-subunit (COL11A2) to isolate and map homologous murine DNA sequences...
- Inada M, Yasui T, Nomura S, Miyake S, Deguchi K, Himeno M, et al. Maturational disturbance of chondrocytes in Cbfa1-deficient mice. Dev Dyn. 1999;214:279-90 pubmed..These findings demonstrate that Cbfa1 is an important factor for chondrocyte differentiation. ..
- Murai J, Ikegami D, Okamoto M, Yoshikawa H, Tsumaki N. Insulation of the ubiquitous Rxrb promoter from the cartilage-specific adjacent gene, Col11a2. J Biol Chem. 2008;283:27677-87 pubmed publisherThe retinoid X receptor beta gene (Rxrb) is located just upstream of the alpha2(XI) collagen chain gene (Col11a2) in a head-to-tail manner. However, the domain structures of these genes are unknown...
- Hamada Y, Sumiyoshi H, Matsuo N, Yun Feng W, Nakashima M, Yanagisawa S, et al. The pro-alpha2(XI) collagen gene is expressed in odontoblasts. Biochem Biophys Res Commun. 2010;392:166-70 pubmed publisher..The data suggest a new subtype of the V/XI collagen molecule containing alpha2(XI) chain. ..
- Wenstrup R, Smith S, Florer J, Zhang G, Beason D, Seegmiller R, et al. Regulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendon. J Biol Chem. 2011;286:20455-65 pubmed publisher..The data demonstrate coordinate roles for collagens V and XI in the regulation of fibril nucleation and assembly during tendon development. ..
- Vandenberg P, Vuoristo M, Ala Kokko L, Prockop D. The mouse col11a2 gene. Some transcripts from the adjacent rxr-beta gene extend into the col11a2 gene. Matrix Biol. 1996;15:359-67 pubmed..cDNAs and mouse genomic DNAs that were analyzed by other investigators were used to isolate a cDNA for the mouse col11a2 gene. Cosmid clones for the mouse col11a2 gene were isolated, and 12...
- Yoshioka H, Iyama K, Inoguchi K, Khaleduzzaman M, Ninomiya Y, Ramirez F. Developmental pattern of expression of the mouse alpha 1 (XI) collagen gene (Col11a1). Dev Dyn. 1995;204:41-7 pubmed..This finding raises the possibility that the alpha 1(XI) chain may participate in the formation of stage- and tissue-specific trimers with distinct functional properties. ..
- Walter L, Fischer K, Gunther E. Physical mapping of the Ring1, Ring2, Ke6, Ke4, Rxrb, Col11a2, and RT1.Hb genes in the rat major histocompatibility complex. Immunogenetics. 1996;44:218-21 pubmedA contig of cosmids containing the Ring1, Ring2, Ke6, Ke4, Rxrb, and Col11a2 genes in the rat major histocompatibility complex has been established and aligned to the class II cluster (RT1.Hb)...
- Masago Y, Hosoya A, Kawasaki K, Kawano S, Nasu A, Toguchida J, et al. The molecular chaperone Hsp47 is essential for cartilage and endochondral bone formation. J Cell Sci. 2012;125:1118-28 pubmed publisher..These results demonstrate that Hsp47 is indispensable for well-organized cartilage and normal endochondral bone formation. ..
- Imamura Y, Scott I, Greenspan D. The pro-alpha3(V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains. J Biol Chem. 2000;275:8749-59 pubmed..COL5A3 is mapped to 19p13.2 near a polymorphic marker that should be useful in analyzing linkage with EDS and other disease phenotypes. ..
- Feenstra J, Kanaya K, Pira C, Hoffman S, Eppey R, Oberg K. Detection of genes regulated by Lmx1b during limb dorsalization. Dev Growth Differ. 2012;54:451-62 pubmed publisher..Our study provides the most comprehensive characterization of genes regulated by Lmx1b during limb development to-date and provides targets for further investigation. ..
- Fernandes R, Weis M, Scott M, Seegmiller R, Eyre D. Collagen XI chain misassembly in cartilage of the chondrodysplasia (cho) mouse. Matrix Biol. 2007;26:597-603 pubmed
- Harris L, Kamarainen O, Sevakivi M, Miller G, Clarke J, Potter J, et al. A novel retinoic acid-response element requires an enhancer element mediator for transcriptional activation. Biochem J. 2004;383:37-43 pubmedThe Col11a2 gene codes for alpha2(XI), a subunit of type XI collagen that is a critical component of the cartilage extracellular matrix...
- Hanson I, Trowsdale J. Colinearity of novel genes in the class II regions of the MHC in mouse and human. Immunogenetics. 1991;34:5-11 pubmed..This gene, which is widely expressed, maps 85 kb proximal to the DPB2 gene. Partial nucleotide sequencing of a RING5 cDNA clone reveals that it is the human homolog of the mouse KE4 gene. ..
- McGuirt W, Prasad S, Griffith A, Kunst H, Green G, Shpargel K, et al. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet. 1999;23:413-9 pubmedWe report that mutation of COL11A2 causes deafness previously mapped to the DFNA13 locus on chromosome 6p...
- Costell M, Gustafsson E, Aszodi A, Morgelin M, Bloch W, Hunziker E, et al. Perlecan maintains the integrity of cartilage and some basement membranes. J Cell Biol. 1999;147:1109-22 pubmed
- Tsumaki N, Tanaka K, Arikawa Hirasawa E, Nakase T, Kimura T, Thomas J, et al. Role of CDMP-1 in skeletal morphogenesis: promotion of mesenchymal cell recruitment and chondrocyte differentiation. J Cell Biol. 1999;144:161-73 pubmed..These results indicate that CDMP-1 antagonizes the ventralization signals from the notochord. Our study suggests a molecular mechanism by which CDMP-1 regulates the formation, growth, and differentiation of the skeletal elements. ..
- Sugimoto M, Kimura T, Tsumaki N, Matsui Y, Nakata K, Kawahata H, et al. Differential in situ expression of alpha2(XI) collagen mRNA isoforms in the developing mouse. Cell Tissue Res. 1998;292:325-32 pubmed..In addition, alpha2(XI) mRNA isoforms containing alternative exons are present in osteogenic cells, and their expression may be closely related to the formation of bone or cartilage. ..
- Lapveteläinen T, Hyttinen M, Lindblom J, Långsjö T, Sironen R, Li S, et al. More knee joint osteoarthritis (OA) in mice after inactivation of one allele of type II procollagen gene but less OA after lifelong voluntary wheel running exercise. Osteoarthritis Cartilage. 2001;9:152-60 pubmed..inactivation of one allele, heterozygous 'knockout', of Col2a1 gene or both alleles, homozygous 'knockout', of Col11a2 gene. Mice lived until 15 months of age in individual cages. Running activity was recorded around the clock...
- Iwai T, Murai J, Yoshikawa H, Tsumaki N. Smad7 Inhibits chondrocyte differentiation at multiple steps during endochondral bone formation and down-regulates p38 MAPK pathways. J Biol Chem. 2008;283:27154-64 pubmed publisher..We generated Col11a2-lacZ(floxed)-Smad7 transgenic mice and mated them with three types of Cre transgenic mice to obtain Smad7(Prx1), ..
- Aszodi A, Chan D, Hunziker E, Bateman J, Fassler R. Collagen II is essential for the removal of the notochord and the formation of intervertebral discs. J Cell Biol. 1998;143:1399-412 pubmed
- Masaki K, Gu J, Ghaffari R, Chan G, Smith R, Freeman D, et al. Col11a2 deletion reveals the molecular basis for tectorial membrane mechanical anisotropy. Biophys J. 2009;96:4717-24 pubmed publisher..molecular basis of this anisotropy, we measured material properties of TMs from mice with a targeted deletion of Col11a2, which encodes for collagen XI...
- Kasahara M, Hayashi M, Tanaka K, Inoko H, Sugaya K, Ikemura T, et al. Chromosomal localization of the proteasome Z subunit gene reveals an ancient chromosomal duplication involving the major histocompatibility complex. Proc Natl Acad Sci U S A. 1996;93:9096-101 pubmed..3 and 9q33-q34). These observations have implications in understanding the genomic organization of the present-day MHC and offer insights into the origin of the MHC. ..
- Shpargel K, Makishima T, Griffith A. Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype. Acta Otolaryngol. 2004;124:242-8 pubmedMutations in the fibrillar collagen genes COL11A1 and COL11A2 can cause sensorineural hearing loss associated with Stickler syndrome...
- Wai A, Ng L, Watanabe H, Yamada Y, Tam P, Cheah K. Disrupted expression of matrix genes in the growth plate of the mouse cartilage matrix deficiency (cmd) mutant. Dev Genet. 1998;22:349-58 pubmed..encoding the glycoprotein link protein, proteoglycan syndecan 3, collagens alpha 1 (X) [Col10a1], alpha 2(XI) [Col11a2], and the alternative transcripts of alpha 1 (II) [Col2a1 type IIA form], and alpha 1 (IX) [Col9a1 long and short ..