Gene Symbol: Col11a2
Description: collagen, type XI, alpha 2
Alias: collagen alpha-2(XI) chain, procollagen, type XI, alpha 2
Species: mouse
Products:     Col11a2

Top Publications

  1. Bridgewater L, Lefebvre V, de Crombrugghe B. Chondrocyte-specific enhancer elements in the Col11a2 gene resemble the Col2a1 tissue-specific enhancer. J Biol Chem. 1998;273:14998-5006 pubmed
    ..two short chondrocyte-specific enhancer elements within a region in the 5' portion of the type XI collagen gene Col11a2 that has previously been shown to influence chondrocyte-specific expression in transgenic mice...
  2. Tsumaki N, Kimura T, Matsui Y, Nakata K, Ochi T. Separable cis-regulatory elements that contribute to tissue- and site-specific alpha 2(XI) collagen gene expression in the embryonic mouse cartilage. J Cell Biol. 1996;134:1573-82 pubmed
    ..In addition, our observations suggest the presence of site-specific cis-acting elements that control Coll11a2 gene expression in different cartilaginous components of the skeleton. ..
  3. Tsumaki N, Kimura T. 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. 1995;270:2372-8 pubmed
    ..The differential expression of specific domains of pro-alpha 2(XI) collagen may be important in modulating interactions between various components of the extracellular matrix and/or may influence heterotypic collagen assembly. ..
  4. Vuristo M, Pihlajamaa T, Vandenberg P, Prockop D, Ala Kokko L. The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens. J Biol Chem. 1995;270:22873-81 pubmed
    The human COL11A2 gene was analyzed from two overlapping cosmid clones that were previously isolated in the course of searching the human major histocompatibility region (Janatipour, M., Naumov, Y., Ando, A., Sugimura, K., Okamoto, N...
  5. Haider N, Ikeda A, Naggert J, Nishina P. Genetic modifiers of vision and hearing. Hum Mol Genet. 2002;11:1195-206 pubmed
    ..Once the identities of modifier genes that suppress vision or hearing loss become known, the door opens to new potential therapeutic targets, since these modifier genes may be more amenable to treatment than the primary mutant gene. ..
  6. Li S, Takanosu M, Arita M, Bao Y, Ren Z, Maier A, et al. Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). Dev Dyn. 2001;222:141-52 pubmed
    Transgenic mice were prepared by homologous recombination with a Col11a2 targeting gene in which an inverted neomycin-resistant gene was inserted between restriction sites in exons 27 and 28...
  7. Baumeister H, Gronostajski R, Lyons G, Margolis F. Identification of NFI-binding sites and cloning of NFI-cDNAs suggest a regulatory role for NFI transcription factors in olfactory neuron gene expression. Brain Res Mol Brain Res. 1999;72:65-79 pubmed
    ..It now remains to characterize the tissue and cell specific patterns of expression of distinct NFI transcription factors during ontogeny and their roles in regulating gene expression. ..
  8. Lui V, Ng L, Sat E, Cheah K. 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. 1996;32:401-12 pubmed
    ..procollagen, with details of the promoter region and intron-exon organization at the 5' and 3' ends of the gene (COL11A2), including the transcription start and polyadenylation sites. COL11A2 is 30...
  9. Imuta Y, Nishioka N, Kiyonari H, Sasaki H. Short limbs, cleft palate, and delayed formation of flat proliferative chondrocytes in mice with targeted disruption of a putative protein kinase gene, Pkdcc (AW548124). Dev Dyn. 2009;238:210-22 pubmed publisher
    ..Together, these data indicate that Pkdcc encodes a protein kinase that is required for the appropriate timing of FPC differentiation. ..

More Information


  1. 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...
  2. 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
  3. 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...
  4. 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. ..
  5. 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 publisher
    The 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...
  6. 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. ..
  7. 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. ..
  8. 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...
  9. 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. ..
  10. 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 pubmed
    A 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)...
  11. 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. ..
  12. 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. ..
  13. 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. ..
  14. 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
  15. 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 pubmed
    The Col11a2 gene codes for alpha2(XI), a subunit of type XI collagen that is a critical component of the cartilage extracellular matrix...
  16. 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. ..
  17. 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 pubmed
    We report that mutation of COL11A2 causes deafness previously mapped to the DFNA13 locus on chromosome 6p...
  18. 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
  19. 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. ..
  20. 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. ..
  21. 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...
  22. 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), ..
  23. 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
  24. 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...
  25. 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. ..
  26. 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 pubmed
    Mutations in the fibrillar collagen genes COL11A1 and COL11A2 can cause sensorineural hearing loss associated with Stickler syndrome...
  27. 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 ..