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Gene Ontology Classifications
Symbol
Name
ID
Col2a1
collagen, type II, alpha 1
MGI:88452

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Col2a1. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of December 16, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Aszodi A et al. (2001) The role of collagen II and cartilage fibril-associated molecules in skeletal development. Osteoarthritis Cartilage, 9 Suppl A:S150-9. (PubMed:11680679)
  2. Aszodi A et al. (1998) Collagen II is essential for the removal of the notochord and the formation of intervertebral discs. J Cell Biol, 143:1399-412. (PubMed:9832566)
  3. Berggren D et al. (1997) Fine structure of extracellular matrix and basal laminae in two types of abnormal collagen production: L-proline analog-treated otocyst cultures and disproportionate micromelia (Dmm/Dmm) mutants. Hear Res, 107:125-35. (PubMed:9165353)
  4. Brown KS et al. (1981) Disproportionate micromelia (Dmm): an incomplete dominant mouse dwarfism with abnormal cartilage matrix. J Embryol Exp Morphol, 62:165-82. (PubMed:7276808)
  5. Fernandes RJ et al. (2007) Collagen XI chain misassembly in cartilage of the chondrodysplasia (cho) mouse. Matrix Biol, 26:597-603. (PubMed:17683922)
  6. Fernandes RJ et al. (2003) Protein consequences of the Col2a1 C-propeptide mutation in the chondrodysplastic Dmm mouse. Matrix Biol, 22:449-53. (PubMed:14614991)
  7. Foster MJ et al. (1994) Pulmonary hypoplasia associated with reduced thoracic space in mice with disproportionate micromelia (DMM). Anat Rec, 238:454-62. (PubMed:8192242)
  8. Heinonen J et al. (2011) Snorc is a novel cartilage specific small membrane proteoglycan expressed in differentiating and articular chondrocytes. Osteoarthritis Cartilage, 19:1026-35. (PubMed:21624478)
  9. Hyttinen MM et al. (2001) Inactivation of one allele of the type II collagen gene alters the collagen network in murine articular cartilage and makes cartilage softer. Ann Rheum Dis, 60:262-8. (PubMed:11171689)
  10. Ihanamaki T et al. (2001) Age-dependent changes in the expression of matrix components in the mouse eye. Exp Eye Res, 72:423-31. (PubMed:11273670)
  11. Karamboulas K et al. (2010) Regulation of BMP-dependent chondrogenesis in early limb mesenchyme by TGFbeta signals. J Cell Sci, 123:2068-76. (PubMed:20501701)
  12. Kluppel M et al. (2005) Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis. Development, 132:3989-4003. (PubMed:16079159)
  13. Lapvetelainen T et al. (2001) 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, 9:152-60. (PubMed:11237662)
  14. Lewis R et al. (2012) Disruption of the developmentally-regulated Col2a1 pre-mRNA alternative splicing switch in a transgenic knock-in mouse model. Matrix Biol, 31:214-26. (PubMed:22248926)
  15. Li SW et al. (1995) Transgenic mice with targeted inactivation of the Col2 alpha 1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone. Genes Dev, 9:2821-30. (PubMed:7590256)
  16. Maddox BK et al. (1997) Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen. Dev Dyn, 208:170-7. (PubMed:9022054)
  17. Maddox BK et al. (1998) Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation. J Craniofac Genet Dev Biol, 18:195-201. (PubMed:10100048)
  18. Masuda H et al. (1998) Expression and localization of collagen-binding stress protein Hsp47 in mouse embryo development: comparison with types I and II collagen. Cell Stress Chaperones, 3:256-64. (PubMed:9880238)
  19. Pace JM et al. (1997) Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1. Dev Dyn, 208:25-33. (PubMed:8989518)
  20. Pavlov MI et al. (2003) Chondrogenic differentiation during midfacial development in the mouse: in vivo and in vitro studies. Biol Cell, 95:75-86. (PubMed:12799063)
  21. Pellegrini M et al. (2001) Agenesis of the scapula in Emx2 homozygous mutants. Dev Biol, 232:149-56. (PubMed:11254354)
  22. Plumb DA et al. (2011) Collagen XXVII organises the pericellular matrix in the growth plate. PLoS One, 6:e29422. (PubMed:22206015)
  23. Rani PU et al. (1999) Restoration of normal bone development by human homologue of collagen type II (COL2A1) gene in Col2a1 null mice. Dev Dyn, 214:26-33. (PubMed:9915573)
  24. Rintala M et al. (1997) Abnormal craniofacial growth and early mandibular osteoarthritis in mice harbouring a mutant type II collagen transgene. J Anat, 190:201-8. (PubMed:9061443)
  25. Rockich BE et al. (2013) Sox9 plays multiple roles in the lung epithelium during branching morphogenesis. Proc Natl Acad Sci U S A, 110:E4456-64. (PubMed:24191021)
  26. Seegmiller RE et al. (1988) Histochemical, immunofluorescence, and ultrastructural differences in fetal cartilage among three genetically distinct chondrodystrophic mice. Teratology, 38:579-92. (PubMed:3070812)
  27. Shibata S et al. (1997) Immunohistochemistry of collagen types II and X, and enzyme-histochemistry of alkaline phosphatase in the developing condylar cartilage of the fetal mouse mandible. J Anat, 191:561-70. (PubMed:9449075)
  28. Watanabe Y et al. (2010) Chondroitin sulfate N-acetylgalactosaminyltransferase-1 is required for normal cartilage development. Biochem J, 432:47-55. (PubMed:20812917)
  29. Wood A et al. (1991) The transient expression of type II collagen at tissue interfaces during mammalian craniofacial development. Development, 111:955-68. (PubMed:1879364)
  30. Yang C et al. (1997) Apoptosis of chondrocytes in transgenic mice lacking collagen II. Exp Cell Res, 235:370-3. (PubMed:9299161)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory