COL11A2
| Gene Description: |
collagen, type XI, alpha 2 |
| Synonyms: |
DFNB53, Col11a2, PARP, HKE5, COL11A2, DFNA13, STL3 |
| Orthologs: |
Human COL11A2 (protein-coding), Mouse Col11a2 (protein-coding), Rat Col11a2 (protein-coding)
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Sources
Sources
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Human-Mouse:
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HomoloGene, MGD, RGD
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Human-Rat:
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HomoloGene, MGD, RGD
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Mouse-Rat:
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HomoloGene, MGD, RGD
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Possible sources:
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HomoloGene, MGD, RGD, Ensembl, Inparanoid, OrthoMCL, KEGG
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Regions of Interest Overlapping this feature from T1DBase
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Regions Overlapping this Feature:
Human: 1
Mouse: 1
Associated Regions: Available
Regions were calculated based on variants available for a large study with a convincing p-value (P < 5 x 10-8) +/- 0.1cM, and then these regions were examined for genes based on the current set of T1DBase gene spans.
Linkage Regions: Available
Gene Overview from T1DBase
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Beta Cell Gene Atlas from T1DBase
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| Users should be aware that the scale represents a rank within an experiment rather than a normalized expression signal.
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Expression Legend
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The Beta Cell Gene Atlas is a collection of almost all available public microarray
data generated with pancreatic beta cells and related cell lines and types. The
expression data comes from 131 array analyses derived from 28 experiments
(open details in a new window).
The basal (untreated cell) expression signal intensity values in each array
were converted to ranks within the experiments; the highest value was used for
genes represented by more than one probe. The rank values of genes in a given cell
type were averaged with other calculated values from experiments performed with the
same cell type. The rank transformation of the expression values enable comparison
of gene expression across different organisms and tissues.
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A red border around a cell indicates greater certainty in the data;
specifically, the gene has >0.95 probability of being expressed in the tissue.
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| Users should be aware that the scale represents a rank within an experiment rather than a normalized expression signal.
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Expression Legend
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Signal intensity values were converted to ranks within the experiments.
For genes represented by more than one probeset, we averaged the intensity
signals for each probeset across all tissues and chose the probeset with the
highest average value. The rank transformation of the expression values enables
comparison of gene expression across different organisms and tissues.
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Interactions Table for COL11A2:
The COL11A2 interactions are shown below. Each row lists the two interactors, the sources which document this as an interaction, a classification of the interaction as empirical or predicted, and Pubmed IDs (if any) for the interaction.
The table of interactions is downloadable as a text file. Please note that the text file will not include data from HPRD due to restrictions imposed by the HPRD funding sources.
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Cross-Reference to Pathways and GO Terms
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View all
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KEGG Network: 4
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Biocarta: None available
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Reactome: None available
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NCI-Nature Pathway Interaction Database: 3
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Gene Ontology: 14
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Type 1 Diabetes Publications: 1
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Conditional analyses on the T1DGC MHC dataset: novel associations with type 1 diabetes around HLA-G and confirmation of HLA-B.
Eike MC, Becker T, Humphreys K, Olsson M, Lie BA
Genes Immun. 2008
PubMed ID: 18830248
Publications: 92
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Regulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendon.
Wenstrup RJ, Smith SM, Florer JB, Zhang G, Beason DP, Seegmiller RE, Soslowsky LJ, Birk DE
J Biol Chem. 2011
PubMed ID: 21467034
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A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
Kayserili H, Wollnik B, Güven G, Emiroğlu MU, Başerer N, Uyguner ZO
Am J Med Genet A. 2011
PubMed ID: 21204229
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Association of COL11A2 polymorphism with susceptibility to Kawasaki disease and development of coronary artery lesions.
Sheu JJ, Lin YJ, Chang JS, Wan L, Chen SY, Huang YC, Chan C, Chiu IW, Tsai FJ
Int J Immunogenet. 2010
PubMed ID: 20618517
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Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators
Diabetes Care. 2010
PubMed ID: 20628086
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Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.
Nikopensius T, Jagomägi T, Krjutskov K, Tammekivi V, Saag M, Prane I, Piekuse L, Akota I, Barkane B, Krumina A, Ambrozaityte L, Matuleviciene A, Kucinskiene ZA, Lace B, Kucinskas V, Metspalu A
Birth Defects Res A Clin Mol Teratol. 2010
PubMed ID: 20672350
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The pro-alpha2(XI) collagen gene is expressed in odontoblasts.
Hamada Y, Sumiyoshi H, Matsuo N, Yun-Feng W, Nakashima M, Yanagisawa S, Yoshioka H
Biochem Biophys Res Commun. 2010
PubMed ID: 20059976
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Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC
PLoS One. 2010
PubMed ID: 20634891
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Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium
Am J Hum Genet. 2009
PubMed ID: 19913121
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High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J, Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens TW, Seldin MF, Thomson G, Harley JB, Gaffney PM, Criswell LA
PLoS Genet. 2009
PubMed ID: 19851445
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Defining the human deubiquitinating enzyme interaction landscape.
Sowa ME, Bennett EJ, Gygi SP, Harper JW
Cell. 2009
PubMed ID: 19615732
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Col11a2 deletion reveals the molecular basis for tectorial membrane mechanical anisotropy.
Masaki K, Gu JW, Ghaffari R, Chan G, Smith RJ, Freeman DM, Aranyosi AJ
Biophys J. 2009
PubMed ID: 19486694
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Lineage-specific biology revealed by a finished genome assembly of the mouse.
Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M, Hlavina W, Kapustin Y, Meric P, Maglott D, Birtle Z, Marques AC, Graves T, Zhou S, Teague B, Potamousis K, Churas C, Place M, Herschleb J, Runnheim R, Forrest D, Amos-Landgraf J, Schwartz DC, Cheng Z, Lindblad-Toh K, Eichler EE, Ponting CP, Mouse Genome Sequencing Consortium
PLoS Biol. 2009
PubMed ID: 19468303
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Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, Maurage CA, Huot L, Bensemain F, Laumet G, Ayral AM, Fievet N, Hauw JJ, Dekosky ST, Lemoine Y, Iwatsubo T, Wavrant-Devrièze F, Dartigues JF, Tzourio C, Buée L, Pasquier F, Berr C, Mann D, Lendon C, Alpérovitch A, Kamboh MI, Amouyel P, Lambert JC
Mol Psychiatry. 2009
PubMed ID: 19204726
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Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.
Videman T, Saarela J, Kaprio J, Näkki A, Levälahti E, Gill K, Peltonen L, Battié MC
Arthritis Rheum. 2009
PubMed ID: 19180518
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Short limbs, cleft palate, and delayed formation of flat proliferative chondrocytes in mice with targeted disruption of a putative protein kinase gene, Pkdcc (AW548124).
Imuta Y, Nishioka N, Kiyonari H, Sasaki H
Dev Dyn. 2009
PubMed ID: 19097194
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Insulation of the ubiquitous Rxrb promoter from the cartilage-specific adjacent gene, Col11a2.
Murai J, Ikegami D, Okamoto M, Yoshikawa H, Tsumaki N
J Biol Chem. 2008
PubMed ID: 18682388
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Smad7 Inhibits chondrocyte differentiation at multiple steps during endochondral bone formation and down-regulates p38 MAPK pathways.
Iwai T, Murai J, Yoshikawa H, Tsumaki N
J Biol Chem. 2008
PubMed ID: 18644788
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Genetic factors are associated with modic changes in endplates of lumbar vertebral bodies.
Karppinen J, Daavittila I, Solovieva S, Kuisma M, Taimela S, Natri A, Haapea M, Korpelainen R, Niinimäki J, Tervonen O, Ala-Kokko L, Männikkö M
Spine. 2008
PubMed ID: 18469698
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Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.
Avcin T, Makitie O, Susic M, Miller S, Thorne C, Tenenbaum J, Laxer RM, Cole WG
J Rheumatol. 2008
PubMed ID: 18381781
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Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locus.
Lee HS, Lee AT, Criswell LA, Seldin MF, Amos CI, Carulli JP, Navarrete C, Remmers EF, Kastner DL, Plenge RM, Li W, Gregersen PK
Mol Med. 2008
PubMed ID: 18309376
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Immunohistochemical localization of collagen type XI alpha1 and alpha2 chains in human colon tissue.
Bowen KB, Reimers AP, Luman S, Kronz JD, Fyffe WE, Oxford JT
J Histochem Cytochem. 2008
PubMed ID: 18040076
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Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, Heath SC, Timpson NJ, Najjar SS, Stringham HM, Strait J, Duren WL, Maschio A, Busonero F, Mulas A, Albai G, Swift AJ, Morken MA, Narisu N, Bennett D, Parish S, Shen H, Galan P, Meneton P, Hercberg S, Zelenika D, Chen WM, Li Y, Scott LJ, Scheet PA, Sundvall J, Watanabe RM, Nagaraja R, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Davey-Smith G, Shuldiner AR, Collins R, Bergman RN, Uda M, Tuomilehto J, Cao A, Collins FS, Lakatta E, Lathrop GM, Boehnke M, Schlessinger D, Mohlke KL, Abecasis GR
Nat Genet. 2008
PubMed ID: 18193043
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Collagen XI chain misassembly in cartilage of the chondrodysplasia (cho) mouse.
Fernandes RJ, Weis M, Scott MA, Seegmiller RE, Eyre DR
Matrix Biol. 2007
PubMed ID: 17683922
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Occupational and genetic risk factors associated with intervertebral disc disease.
Virtanen IM, Karppinen J, Taimela S, Ott J, Barral S, Kaikkonen K, Heikkilä O, Mutanen P, Noponen N, Männikkö M, Tervonen O, Natri A, Ala-Kokko L
Spine. 2007
PubMed ID: 17471097
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A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine.
Horikoshi T, Maeda K, Kawaguchi Y, Chiba K, Mori K, Koshizuka Y, Hirabayashi S, Sugimori K, Matsumoto M, Kawaguchi H, Takahashi M, Inoue H, Kimura T, Matsusue Y, Inoue I, Baba H, Nakamura K, Ikegawa S
Hum Genet. 2006
PubMed ID: 16609882
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Sp1 family of transcription factors regulates the human alpha2 (XI) collagen gene (COL11A2) in Saos-2 osteoblastic cells.
Goto T, Matsui Y, Fernandes RJ, Hanson DA, Kubo T, Yukata K, Michigami T, Komori T, Fujita T, Yang L, Eyre DR, Yasui N
J Bone Miner Res. 2006
PubMed ID: 16734381
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Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms.
Solovieva S, Lohiniva J, Leino-Arjas P, Raininko R, Luoma K, Ala-Kokko L, Riihimäki H
Eur Spine J. 2006
PubMed ID: 16133074
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Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defects.
Desai J, Shannon ME, Johnson MD, Ruff DW, Hughes LA, Kerley MK, Carpenter DA, Johnson DK, Rinchik EM, Culiat CT
Hum Mol Genet. 2006
PubMed ID: 16537572
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Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJ
J Med Genet. 2005
PubMed ID: 16033917
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Antisense transcription in the mammalian transcriptome.
Katayama S, Tomaru Y, Kasukawa T, Waki K, Nakanishi M, Nakamura M, Nishida H, Yap CC, Suzuki M, Kawai J, Suzuki H, Carninci P, Hayashizaki Y, Wells C, Frith M, Ravasi T, Pang KC, Hallinan J, Mattick J, Hume DA, Lipovich L, Batalov S, Engström PG, Mizuno Y, Faghihi MA, Sandelin A, Chalk AM, Mottagui-Tabar S, Liang Z, Lenhard B, Wahlestedt C, RIKEN Genome Exploration Research Group, Genome Science Group (Genome Network Project Core Group), FANTOM Consortium
Science. 2005
PubMed ID: 16141073
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The transcriptional landscape of the mammalian genome.
Carninci P, Kasukawa T, Katayama S, Gough J, Frith MC, Maeda N, Oyama R, Ravasi T, Lenhard B, Wells C, Kodzius R, Shimokawa K, Bajic VB, Brenner SE, Batalov S, Forrest AR, Zavolan M, Davis MJ, Wilming LG, Aidinis V, Allen JE, Ambesi-Impiombato A, Apweiler R, Aturaliya RN, Bailey TL, Bansal M, Baxter L, Beisel KW, Bersano T, Bono H, Chalk AM, Chiu KP, Choudhary V, Christoffels A, Clutterbuck DR, Crowe ML, Dalla E, Dalrymple BP, de Bono B, Della Gatta G, di Bernardo D, Down T, Engstrom P, Fagiolini M, Faulkner G, Fletcher CF, Fukushima T, Furuno M, Futaki S, Gariboldi M, Georgii-Hemming P, Gingeras TR, Gojobori T, Green RE, Gustincich S, Harbers M, Hayashi Y, Hensch TK, Hirokawa N, Hill D, Huminiecki L, Iacono M, Ikeo K, Iwama A, Ishikawa T, Jakt M, Kanapin A, Katoh M, Kawasawa Y, Kelso J, Kitamura H, Kitano H, Kollias G, Krishnan SP, Kruger A, Kummerfeld SK, Kurochkin IV, Lareau LF, Lazarevic D, Lipovich L, Liu J, Liuni S, McWilliam S, Madan Babu M, Madera M, Marchionni L, Matsuda H, Matsuzawa S, Miki H, Mignone F, Miyake S, Morris K, Mottagui-Tabar S, Mulder N, Nakano N, Nakauchi H, Ng P, Nilsson R, Nishiguchi S, Nishikawa S, Nori F, Ohara O, Okazaki Y, Orlando V, Pang KC, Pavan WJ, Pavesi G, Pesole G, Petrovsky N, Piazza S, Reed J, Reid JF, Ring BZ, Ringwald M, Rost B, Ruan Y, Salzberg SL, Sandelin A, Schneider C, Schönbach C, Sekiguchi K, Semple CA, Seno S, Sessa L, Sheng Y, Shibata Y, Shimada H, Shimada K, Silva D, Sinclair B, Sperling S, Stupka E, Sugiura K, Sultana R, Takenaka Y, Taki K, Tammoja K, Tan SL, Tang S, Taylor MS, Tegner J, Teichmann SA, Ueda HR, van Nimwegen E, Verardo R, Wei CL, Yagi K, Yamanishi H, Zabarovsky E, Zhu S, Zimmer A, Hide W, Bult C, Grimmond SM, Teasdale RD, Liu ET, Brusic V, Quackenbush J, Wahlestedt C, Mattick JS, Hume DA, Kai C, Sasaki D, Tomaru Y, Fukuda S, Kanamori-Katayama M, Suzuki M, Aoki J, Arakawa T, Iida J, Imamura K, Itoh M, Kato T, Kawaji H, Kawagashira N, Kawashima T, Kojima M, Kondo S, Konno H, Nakano K, Ninomiya N, Nishio T, Okada M, Plessy C, Shibata K, Shiraki T, Suzuki S, Tagami M, Waki K, Watahiki A, Okamura-Oho Y, Suzuki H, Kawai J, Hayashizaki Y, FANTOM Consortium, RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group)
Science. 2005
PubMed ID: 16141072
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The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.
Jakkula E, Melkoniemi M, Kiviranta I, Lohiniva J, Räinä SS, Perälä M, Warman ML, Ahonen K, Kröger H, Göring HH, Ala-Kokko L
Osteoarthritis Cartilage. 2005
PubMed ID: 15922184
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Tagging genes with cassette-exchange sites.
Cobellis G, Nicolaus G, Iovino M, Romito A, Marra E, Barbarisi M, Sardiello M, Di Giorgio FP, Iovino N, Zollo M, Ballabio A, Cortese R
Nucleic Acids Res. 2005
PubMed ID: 15741177
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Gene and alternative splicing annotation with AIR.
Florea L, Di Francesco V, Miller J, Turner R, Yao A, Harris M, Walenz B, Mobarry C, Merkulov GV, Charlab R, Dew I, Deng Z, Istrail S, Li P, Sutton G
Genome Res. 2005
PubMed ID: 15632090
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COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).
Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS
Am J Med Genet A. 2005
PubMed ID: 15558753
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The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Morrin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J, MGC Project Team
Genome Res. 2004
PubMed ID: 15489334
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A novel retinoic acid-response element requires an enhancer element mediator for transcriptional activation.
Harris LR, Kamarainen OP, Sevakivi M, Miller GC, Clarke JW, Potter JL, Bridgewater LC
Biochem J. 2004
PubMed ID: 15206905
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Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype.
Shpargel KB, Makishima T, Griffith AJ
Acta Otolaryngol. 2004
PubMed ID: 15141750
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Gene content of the 750-kb critical region for mouse embryonic ectoderm lethal tcl-w5.
Abe K, Yuzuriha M, Sugimoto M, Ko MS, Brathwaite M, Waeltz P, Nagaraja R
Mamm Genome. 2004
PubMed ID: 15112104
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The genomic sequence and comparative analysis of the rat major histocompatibility complex.
Hurt P, Walter L, Sudbrak R, Klages S, Müller I, Shiina T, Inoko H, Lehrach H, Günther E, Reinhardt R, Himmelbauer H
Genome Res. 2004
PubMed ID: 15060004
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Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE, Okwuonu G, Hines S, Lewis L, DeRamo C, Delgado O, Dugan-Rocha S, Miner G, Morgan M, Hawes A, Gill R, Celera, Holt RA, Adams MD, Amanatides PG, Baden-Tillson H, Barnstead M, Chin S, Evans CA, Ferriera S, Fosler C, Glodek A, Gu Z, Jennings D, Kraft CL, Nguyen T, Pfannkoch CM, Sitter C, Sutton GG, Venter JC, Woodage T, Smith D, Lee HM, Gustafson E, Cahill P, Kana A, Doucette-Stamm L, Weinstock K, Fechtel K, Weiss RB, Dunn DM, Green ED, Blakesley RW, Bouffard GG, De Jong PJ, Osoegawa K, Zhu B, Marra M, Schein J, Bosdet I, Fjell C, Jones S, Krzywinski M, Mathewson C, Siddiqui A, Wye N, McPherson J, Zhao S, Fraser CM, Shetty J, Shatsman S, Geer K, Chen Y, Abramzon S, Nierman WC, Havlak PH, Chen R, Durbin KJ, Egan A, Ren Y, Song XZ, Li B, Liu Y, Qin X, Cawley S, Worley KC, Cooney AJ, D'Souza LM, Martin K, Wu JQ, Gonzalez-Garay ML, Jackson AR, Kalafus KJ, McLeod MP, Milosavljevic A, Virk D, Volkov A, Wheeler DA, Zhang Z, Bailey JA, Eichler EE, Tuzun E, Birney E, Mongin E, Ureta-Vidal A, Woodwark C, Zdobnov E, Bork P, Suyama M, Torrents D, Alexandersson M, Trask BJ, Young JM, Huang H, Wang H, Xing H, Daniels S, Gietzen D, Schmidt J, Stevens K, Vitt U, Wingrove J, Camara F, Mar Albà M, Abril JF, Guigo R, Smit A, Dubchak I, Rubin EM, Couronne O, Poliakov A, Hübner N, Ganten D, Goesele C, Hummel O, Kreitler T, Lee YA, Monti J, Schulz H, Zimdahl H, Himmelbauer H, Lehrach H, Jacob HJ, Bromberg S, Gullings-Handley J, Jensen-Seaman MI, Kwitek AE, Lazar J, Pasko D, Tonellato PJ, Twigger S, Ponting CP, Duarte JM, Rice S, Goodstadt L, Beatson SA, Emes RD, Winter EE, Webber C, Brandt P, Nyakatura G, Adetobi M, Chiaromonte F, Elnitski L, Eswara P, Hardison RC, Hou M, Kolbe D, Makova K, Miller W, Nekrutenko A, Riemer C, Schwartz S, Taylor J, Yang S, Zhang Y, Lindpaintner K, Andrews TD, Caccamo M, Clamp M, Clarke L, Curwen V, Durbin R, Eyras E, Searle SM, Cooper GM, Batzoglou S, Brudno M, Sidow A, Stone EA, Venter JC, Payseur BA, Bourque G, López-Otín C, Puente XS, Chakrabarti K, Chatterji S, Dewey C, Pachter L, Bray N, Yap VB, Caspi A, Tesler G, Pevzner PA, Haussler D, Roskin KM, Baertsch R, Clawson H, Furey TS, Hinrichs AS, Karolchik D, Kent WJ, Rosenbloom KR, Trumbower H, Weirauch M, Cooper DN, Stenson PD, Ma B, Brent M, Arumugam M, Shteynberg D, Copley RR, Taylor MS, Riethman H, Mudunuri U, Peterson J, Guyer M, Felsenfeld A, Old S, Mockrin S, Collins F, Rat Genome Sequencing Project Consortium
Nature. 2004
PubMed ID: 15057822
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The DNA sequence and analysis of human chromosome 6.
Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S
Nature. 2003
PubMed ID: 14574404
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COL11A2 collagen gene transcription is differentially regulated by EWS/ERG sarcoma fusion protein and wild-type ERG.
Matsui Y, Chansky HA, Barahmand-Pour F, Zielinska-Kwiatkowska A, Tsumaki N, Myoui A, Yoshikawa H, Yang L, Eyre DR
J Biol Chem. 2003
PubMed ID: 12554743
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Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.
Melkoniemi M, Koillinen H, Männikkö M, Warman ML, Pihlajamaa T, Kääriäinen H, Rautio J, Hukki J, Stofko JA, Cisneros GJ, Krakow D, Cohn DH, Kere J, Ala-Kokko L
Eur J Hum Genet. 2003
PubMed ID: 12673280
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Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA, Mammalian Gene Collection Program Team
Proc Natl Acad Sci U S A. 2002
PubMed ID: 12477932
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Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Okazaki Y, Furuno M, Kasukawa T, Adachi J, Bono H, Kondo S, Nikaido I, Osato N, Saito R, Suzuki H, Yamanaka I, Kiyosawa H, Yagi K, Tomaru Y, Hasegawa Y, Nogami A, Schönbach C, Gojobori T, Baldarelli R, Hill DP, Bult C, Hume DA, Quackenbush J, Schriml LM, Kanapin A, Matsuda H, Batalov S, Beisel KW, Blake JA, Bradt D, Brusic V, Chothia C, Corbani LE, Cousins S, Dalla E, Dragani TA, Fletcher CF, Forrest A, Frazer KS, Gaasterland T, Gariboldi M, Gissi C, Godzik A, Gough J, Grimmond S, Gustincich S, Hirokawa N, Jackson IJ, Jarvis ED, Kanai A, Kawaji H, Kawasawa Y, Kedzierski RM, King BL, Konagaya A, Kurochkin IV, Lee Y, Lenhard B, Lyons PA, Maglott DR, Maltais L, Marchionni L, McKenzie L, Miki H, Nagashima T, Numata K, Okido T, Pavan WJ, Pertea G, Pesole G, Petrovsky N, Pillai R, Pontius JU, Qi D, Ramachandran S, Ravasi T, Reed JC, Reed DJ, Reid J, Ring BZ, Ringwald M, Sandelin A, Schneider C, Semple CA, Setou M, Shimada K, Sultana R, Takenaka Y, Taylor MS, Teasdale RD, Tomita M, Verardo R, Wagner L, Wahlestedt C, Wang Y, Watanabe Y, Wells C, Wilming LG, Wynshaw-Boris A, Yanagisawa M, Yang I, Yang L, Yuan Z, Zavolan M, Zhu Y, Zimmer A, Carninci P, Hayatsu N, Hirozane-Kishikawa T, Konno H, Nakamura M, Sakazume N, Sato K, Shiraki T, Waki K, Kawai J, Aizawa K, Arakawa T, Fukuda S, Hara A, Hashizume W, Imotani K, Ishii Y, Itoh M, Kagawa I, Miyazaki A, Sakai K, Sasaki D, Shibata K, Shinagawa A, Yasunishi A, Yoshino M, Waterston R, Lander ES, Rogers J, Birney E, Hayashizaki Y, FANTOM Consortium, RIKEN Genome Exploration Research Group Phase I & II Team
Nature. 2002
PubMed ID: 12466851
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Chondromodulin I is dispensable during enchondral ossification and eye development.
Brandau O, Aszódi A, Hunziker EB, Neame PJ, Vestweber D, Fässler R
Mol Cell Biol. 2002
PubMed ID: 12192060
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Genetic modifiers of vision and hearing.
Haider NB, Ikeda A, Naggert JK, Nishina PM
Hum Mol Genet. 2002
PubMed ID: 12015279
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Immature osteoblastic cells express the pro-alpha2(XI) collagen gene during bone formation in vitro and in vivo.
Urabe K, Jingushi S, Ikenoue T, Okazaki K, Sakai H, Li C, Iwamoto Y
J Orthop Res. 2001
PubMed ID: 11780999
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Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED).
Li SW, Takanosu M, Arita M, Bao Y, Ren ZX, Maier A, Prockop DJ, Mayne R
Dev Dyn. 2001
PubMed ID: 11668593
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Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine.
Maeda S, Ishidou Y, Koga H, Taketomi E, Ikari K, Komiya S, Takeda J, Sakou T, Inoue I
J Bone Miner Res. 2001
PubMed ID: 11341341
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Functional annotation of a full-length mouse cDNA collection.
Kawai J, Shinagawa A, Shibata K, Yoshino M, Itoh M, Ishii Y, Arakawa T, Hara A, Fukunishi Y, Konno H, Adachi J, Fukuda S, Aizawa K, Izawa M, Nishi K, Kiyosawa H, Kondo S, Yamanaka I, Saito T, Okazaki Y, Gojobori T, Bono H, Kasukawa T, Saito R, Kadota K, Matsuda H, Ashburner M, Batalov S, Casavant T, Fleischmann W, Gaasterland T, Gissi C, King B, Kochiwa H, Kuehl P, Lewis S, Matsuo Y, Nikaido I, Pesole G, Quackenbush J, Schriml LM, Staubli F, Suzuki R, Tomita M, Wagner L, Washio T, Sakai K, Okido T, Furuno M, Aono H, Baldarelli R, Barsh G, Blake J, Boffelli D, Bojunga N, Carninci P, de Bonaldo MF, Brownstein MJ, Bult C, Fletcher C, Fujita M, Gariboldi M, Gustincich S, Hill D, Hofmann M, Hume DA, Kamiya M, Lee NH, Lyons P, Marchionni L, Mashima J, Mazzarelli J, Mombaerts P, Nordone P, Ring B, Ringwald M, Rodriguez I, Sakamoto N, Sasaki H, Sato K, Schönbach C, Seya T, Shibata Y, Storch KF, Suzuki H, Toyo-oka K, Wang KH, Weitz C, Whittaker C, Wilming L, Wynshaw-Boris A, Yoshida K, Hasegawa Y, Kawaji H, Kohtsuki S, Hayashizaki Y, RIKEN Genome Exploration Research Group Phase II Team and the FANTOM Consortium
Nature. 2001
PubMed ID: 11217851
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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.
Lapveteläinen T, Hyttinen M, Lindblom J, Långsjö TK, Sironen R, Li SW, Arita M, Prockop DJ, Puustjärvi K, Helminen HJ
Osteoarthritis Cartilage. 2001
PubMed ID: 11237662
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Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine.
Maeda S, Koga H, Matsunaga S, Numasawa T, Ikari K, Furushima K, Harata S, Takeda J, Sakou T, Komiya S, Inoue I
J Hum Genet. 2001
PubMed ID: 11289713
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RIKEN integrated sequence analysis (RISA) system--384-format sequencing pipeline with 384 multicapillary sequencer.
Shibata K, Itoh M, Aizawa K, Nagaoka S, Sasaki N, Carninci P, Konno H, Akiyama J, Nishi K, Kitsunai T, Tashiro H, Itoh M, Sumi N, Ishii Y, Nakamura S, Hazama M, Nishine T, Harada A, Yamamoto R, Matsumoto H, Sakaguchi S, Ikegami T, Kashiwagi K, Fujiwake S, Inoue K, Togawa Y
Genome Res. 2000
PubMed ID: 11076861
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Normalization and subtraction of cap-trapper-selected cDNAs to prepare full-length cDNA libraries for rapid discovery of new genes.
Carninci P, Shibata Y, Hayatsu N, Sugahara Y, Shibata K, Itoh M, Konno H, Okazaki Y, Muramatsu M, Hayashizaki Y
Genome Res. 2000
PubMed ID: 11042159
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Identification of an enhancer sequence within the first intron required for cartilage-specific transcription of the alpha2(XI) collagen gene.
Liu Y, Li H, Tanaka K, Tsumaki N, Yamada Y
J Biol Chem. 2000
PubMed ID: 10777565
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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.
Imamura Y, Scott IC, Greenspan DS
J Biol Chem. 2000
PubMed ID: 10722718
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Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L
Am J Hum Genet. 2000
PubMed ID: 10677296
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Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ
Nat Genet. 1999
PubMed ID: 10581026
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Perlecan maintains the integrity of cartilage and some basement membranes.
Costell M, Gustafsson E, Aszódi A, Mörgelin M, Bloch W, Hunziker E, Addicks K, Timpl R, Fässler R
J Cell Biol. 1999
PubMed ID: 10579729
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Identification of NFI-binding sites and cloning of NFI-cDNAs suggest a regulatory role for NFI transcription factors in olfactory neuron gene expression.
Baumeister H, Gronostajski RM, Lyons GE, Margolis FL
Brain Res Mol Brain Res. 1999
PubMed ID: 10521600
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Maturational disturbance of chondrocytes in Cbfa1-deficient mice.
Inada M, Yasui T, Nomura S, Miyake S, Deguchi K, Himeno M, Sato M, Yamagiwa H, Kimura T, Yasui N, Ochi T, Endo N, Kitamura Y, Kishimoto T, Komori T
Dev Dyn. 1999
PubMed ID: 10213384
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Role of CDMP-1 in skeletal morphogenesis: promotion of mesenchymal cell recruitment and chondrocyte differentiation.
Tsumaki N, Tanaka K, Arikawa-Hirasawa E, Nakase T, Kimura T, Thomas JT, Ochi T, Luyten FP, Yamada Y
J Cell Biol. 1999
PubMed ID: 9885252
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High-efficiency full-length cDNA cloning.
Carninci P, Hayashizaki Y
Methods Enzymol. 1999
PubMed ID: 10349636
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Collagen II is essential for the removal of the notochord and the formation of intervertebral discs.
Aszódi A, Chan D, Hunziker E, Bateman JF, Fässler R
J Cell Biol. 1998
PubMed ID: 9832566
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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).
Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L
Am J Med Genet. 1998
PubMed ID: 9805126
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Chondrocyte-specific enhancer elements in the Col11a2 gene resemble the Col2a1 tissue-specific enhancer.
Bridgewater LC, Lefebvre V, de Crombrugghe B
J Biol Chem. 1998
PubMed ID: 9614107
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Genetic mapping of ossification of the posterior longitudinal ligament of the spine.
Koga H, Sakou T, Taketomi E, Hayashi K, Numasawa T, Harata S, Yone K, Matsunaga S, Otterud B, Inoue I, Leppert M
Am J Hum Genet. 1998
PubMed ID: 9585596
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Differential in situ expression of alpha2(XI) collagen mRNA isoforms in the developing mouse.
Sugimoto M, Kimura T, Tsumaki N, Matsui Y, Nakata K, Kawahata H, Yasui N, Kitamura Y, Nomura S, Ochi T
Cell Tissue Res. 1998
PubMed ID: 9560475
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Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH
J Pediatr. 1998
PubMed ID: 9506662
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Disrupted expression of matrix genes in the growth plate of the mouse cartilage matrix deficiency (cmd) mutant.
Wai AW, Ng LJ, Watanabe H, Yamada Y, Tam PP, Cheah KS
Dev Genet. 1998
PubMed ID: 9664687
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Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG
Am J Med Genet. 1997
PubMed ID: 9188673
-
Nonsyndromic hearing impairment: unparalleled heterogeneity.
Van Camp G, Willems PJ, Smith RJ
Am J Hum Genet. 1997
PubMed ID: 9106521
-
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.
Kuivaniemi H, Tromp G, Prockop DJ
Hum Mutat. 1997
PubMed ID: 9101290
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The mouse col11a2 gene. Some transcripts from the adjacent rxr-beta gene extend into the col11a2 gene.
Vandenberg P, Vuoristo MM, Ala-Kokko L, Prockop DJ
Matrix Biol. 1996
PubMed ID: 8981332
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Separable cis-regulatory elements that contribute to tissue- and site-specific alpha 2(XI) collagen gene expression in the embryonic mouse cartilage.
Tsumaki N, Kimura T, Matsui Y, Nakata K, Ochi T
J Cell Biol. 1996
PubMed ID: 8830784
-
Chromosomal localization of the proteasome Z subunit gene reveals an ancient chromosomal duplication involving the major histocompatibility complex.
Kasahara M, Hayashi M, Tanaka K, Inoko H, Sugaya K, Ikemura T, Ishibashi T
Proc Natl Acad Sci U S A. 1996
PubMed ID: 8799160
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Extensive alternative splicing within the amino-propeptide coding domain of alpha2(XI) procollagen mRNAs. Expression of transcripts encoding truncated pro-alpha chains.
Lui VC, Ng LJ, Sat EW, Nicholls J, Cheah KS
J Biol Chem. 1996
PubMed ID: 8663204
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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.
Lui VC, Ng LJ, Sat EW, Cheah KS
Genomics. 1996
PubMed ID: 8838804
-
Physical mapping of the Ring1, Ring2, Ke6, Ke4, Rxrb, Col11a2, and RT1.Hb genes in the rat major histocompatibility complex.
Walter L, Fischer K, Günther E
Immunogenetics. 1996
PubMed ID: 8662089
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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.
Keene DR, Oxford JT, Morris NP
J Histochem Cytochem. 1995
PubMed ID: 7560887
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The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens.
Vuristo MM, Pihlajamaa T, Vandenberg P, Prockop DJ, Ala-Kokko L
J Biol Chem. 1995
PubMed ID: 7559422
-
Developmental pattern of expression of the mouse alpha 1 (XI) collagen gene (Col11a1).
Yoshioka H, Iyama K, Inoguchi K, Khaleduzzaman M, Ninomiya Y, Ramirez F
Dev Dyn. 1995
PubMed ID: 8563024
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Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains.
Zhidkova NI, Justice SK, Mayne R
J Biol Chem. 1995
PubMed ID: 7721876
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Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, de Waal Malefijt MC, van den Hoogen FH, Ropers HH
Cell. 1995
PubMed ID: 7859284
-
Differential expression of an acidic domain in the amino-terminal propeptide of mouse pro-alpha 2(XI) collagen by complex alternative splicing.
Tsumaki N, Kimura T
J Biol Chem. 1995
PubMed ID: 7836472
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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.
Zhidkova NI, Brewton RG, Mayne R
FEBS Lett. 1993
PubMed ID: 8325374
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The alpha 2(XI) collagen gene lies within 8 kb of Pb in the proximal portion of the murine major histocompatibility complex.
Stubbs L, Lui VC, Ng LJ, Cheah KS
Mamm Genome. 1993
PubMed ID: 8431643
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Colinearity of novel genes in the class II regions of the MHC in mouse and human.
Hanson IM, Trowsdale J
Immunogenetics. 1991
PubMed ID: 1855816
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The human alpha 2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex on chromosome 6.
Hanson IM, Gorman P, Lui VC, Cheah KS, Solomon E, Trowsdale J
Genomics. 1989
PubMed ID: 2591970
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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.
Kimura T, Cheah KS, Chan SD, Lui VC, Mattei MG, van der Rest M, Ono K, Solomon E, Ninomiya Y, Olsen BR
J Biol Chem. 1989
PubMed ID: 2760050
Model Organism Phenotype Links
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This section provides links to model organism phenotype resources. Currently only to mouse phenotypes.
External resources (dkCOIN) from NIDDK Consortium Interconnectivity Network
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Relevant resources:
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