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 Wednesday, January 23, 2013.)

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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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Col1a2
  • participates in the following biological processes:
    • cellular response to amino acid stimulus ^[8]
    • protein heterotrimerization ^[1]
  • is located in the following cellular components:
    • collagen ^{[2, 4, 5]}
    • collagen type I ^[7]
• The gene product of Col1a2 has been shown to bind to the gene products of Col1a1. ^{[1, 6]} Researchers have inferred, based on physical interactions, that the gene product of Col1a2
  • performs the following molecular functions:
    • SMAD binding ^[3]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Col1a2:
  • participates in the following biological processes:
    • blood vessel development
    • collagen fibril organization
    • regulation of blood pressure
    • Rho protein signal transduction
    • skeletal system development
    • skin morphogenesis
    • transforming growth factor beta receptor signaling pathway
  • performs the following molecular functions:
    • identical protein binding
    • platelet-derived growth factor binding
    • protein binding, bridging
  • is located in the following cellular components:
    • collagen type I
    • extracellular space
    • extracellular vesicular exosome

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Summary text based on GO annotations supported by structural data

• Col1a2 encodes a protein or proteins that contain the following InterPro domains: Collagen triple helix repeat, Fibrillar collagen, C-terminal, indicating that the gene product:
  • performs the following molecular functions:
    • extracellular matrix structural constituent

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Col1a2 indicates that it:
  • performs the following molecular functions:
    • metal ion binding
  • is located in the following cellular components:
    • extracellular region
    • proteinaceous extracellular matrix

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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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