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

GO curators for mouse genes have assigned the following annotations to the gene product of Fbn2. (This text reflects annotations as of Thursday, January 16, 2014.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]

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

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Fbn2
  • participates in the following biological processes:
    • bone trabecula formation ^[4]
    • embryonic limb morphogenesis ^{[1, 2]}
    • limb morphogenesis ^[3]
    • positive regulation of bone mineralization ^[4]
    • positive regulation of osteoblast differentiation ^[4]
    • sequestering of TGFbeta in extracellular matrix ^[4]
  • is located in the following cellular components:
    • extracellular region ^[4]

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Summary text based on GO annotations supported by structural data

• Fbn2 encodes a protein or proteins that contain the following InterPro domains: Complement Clr-like EGF domain, EGF-like calcium-binding, EGF-like calcium-binding, conserved site, EGF-like, conserved site, EGF-type aspartate/asparagine hydroxylation site, Epidermal growth factor-like domain, Fibrillin, Insulin-like growth factor binding protein, N-terminal, TB domain, indicating that the gene product:
  • performs the following molecular functions:
    • extracellular matrix structural constituent
  • is located in the following cellular components:
    • proteinaceous extracellular matrix

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Fbn2 indicates that it:
  • is located in the following cellular components:
    • proteinaceous extracellular matrix

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References

1. Browning VL et al. (2001) Mutations of the Mouse Twist and sy (Fibrillin 2) Genes Induced by Chemical Mutagenesis of ES Cells. Genomics, 73:291-8. (PubMed:11350121)
2. Chaudhry SS et al. (2001) Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Hum Mol Genet, 10:835-43. (PubMed:11285249)
3. Munroe RJ et al. (2000) Mouse mutants from chemically mutagenized embryonic stem cells. Nat Genet, 24:318-21. (PubMed:10700192)
4. Nistala H et al. (2010) Fibrillin-1 and -2 differentially modulate endogenous TGF-beta and BMP bioavailability during bone formation. J Cell Biol, 190:1107-21. (PubMed:20855508)

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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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