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

GO curators for mouse genes have assigned the following annotations to the gene product of Gdf5. (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.] The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development. [provided by RefSeq, Jul 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 Gdf5
  • participates in the following biological processes:
    • positive regulation of chondrocyte differentiation ^[7]
• The gene product of Gdf5 has been shown to bind to the gene products of Chrdl2, Htra1, Htra3. ^{[1, 2, 6]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Gdf5
  • participates in the following biological processes:
    • embryonic limb morphogenesis ^[5]
    • forelimb morphogenesis ^[3]
    • hindlimb morphogenesis ^{[3, 4]}
    • regulation of apoptotic process ^[5]
    • regulation of multicellular organism growth ^[4]

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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 Gdf5:
  • participates in the following biological processes:
    • negative regulation of epithelial cell proliferation

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Summary text based on GO annotations supported by structural data

• Gdf5 encodes a protein or proteins that contain the following InterPro domains: Inhibin, alpha subunit, Transforming growth factor beta, conserved site, Transforming growth factor-beta, C-terminal, Transforming growth factor-beta, N-terminal, Transforming growth factor-beta-related, indicating that the gene product:
  • participates in the following biological processes:
    • growth
  • performs the following molecular functions:
    • growth factor activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Gdf5 indicates that it:
  • participates in the following biological processes:
    • cartilage development
  • performs the following molecular functions:
    • cytokine activity
    • growth factor activity
  • is located in the following cellular components:
    • extracellular region
    • extracellular space

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References

1. Nakayama N et al. (2004) A novel chordin-like BMP inhibitor, CHL2, expressed preferentially in chondrocytes of developing cartilage and osteoarthritic joint cartilage. Development, 131:229-40. (PubMed:14660436)
2. Oka C et al. (2004) HtrA1 serine protease inhibits signaling mediated by Tgfbeta family proteins. Development, 131:1041-53. (PubMed:14973287)
3. Storm EE et al. (1994) Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily [see comments] Nature, 368:639-43. (PubMed:8145850)
4. Suto J. (2006) Identification of mutation in the growth differentiation factor 5 (Gdf5) gene in NC-brp/brp mice. J Vet Med Sci, 68:1121-4. (PubMed:17085896)
5. Takahara M et al. (2004) Developmental failure of phalanges in the absence of growth/differentiation factor 5. Bone, 35:1069-76. (PubMed:15542031)
6. Tocharus J et al. (2004) Developmentally regulated expression of mouse HtrA3 and its role as an inhibitor of TGF-beta signaling. Dev Growth Differ, 46:257-74. (PubMed:15206957)
7. Tsumaki N et al. (1999) Role of CDMP-1 in skeletal morphogenesis: promotion of mesenchymal cell recruitment and chondrocyte differentiation. J Cell Biol, 144:161-73. (PubMed:9885252)

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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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