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Gene Ontology Classifications
Symbol
Name
ID
Col1a2
collagen, type I, alpha 2
MGI:88468

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

GO curators for mouse genes have assigned the following annotations to the gene product of Col1a2. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 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. Balk ML et al. (1997) Effect of rhBMP-2 on the osteogenic potential of bone marrow stromal cells from an osteogenesis imperfecta mouse (oim). Bone, 21:7-15. (PubMed:9213002)
  2. Buck M et al. (1996) Tumor necrosis factor-alpha inhibits collagen alpha1(I) gene expression and wound healing in a murine model of cachexia. Am J Pathol, 149:195-204. (PubMed:8686743)
  3. Ellis LR et al. (2003) Interaction of Smads with collagen types I, III, and V. Biochem Biophys Res Commun, 310:1117-23. (PubMed:14559231)
  4. Forlino A et al. (1999) Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. J Biol Chem, 274:37923-31. (PubMed:10608859)
  5. Forlino A et al. (2007) Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI. Matrix Biol, 26:604-14. (PubMed:17662583)
  6. Lamande SR et al. (1995) The type I collagen pro alpha 1(I) COOH-terminal propeptide N-linked oligosaccharide. Functional analysis by site-directed mutagenesis. J Biol Chem, 270:17858-65. (PubMed:7629088)
  7. Ohsaki Y et al. (1994) Type III collagen is a major component of interodontoblastic fibers of the developing mouse molar root. Anat Rec, 240:308-13. (PubMed:7825727)
  8. Pogribny IP et al. (2010) Difference in expression of hepatic microRNAs miR-29c, miR-34a, miR-155, and miR-200b is associated with strain-specific susceptibility to dietary nonalcoholic steatohepatitis in mice. Lab Invest, 90:1437-46. (PubMed:20548288)



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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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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory