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

GO curators for mouse genes have assigned the following annotations to the gene product of Gdf6. (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.] This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [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 Gdf6
  • participates in the following biological processes:
    • BMP signaling pathway ^[2]
    • positive regulation of neuron differentiation ^[1]
  • performs the following molecular functions:
    • protein homodimerization activity ^[2]
• Researchers have inferred, based on genetic interactions, that the gene product of Gdf6
  • participates in the following biological processes:
    • BMP signaling pathway based on interactions with Bmpr1a, Bmpr1b ^[2]

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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 Gdf6:
  • participates in the following biological processes:
    • activin receptor signaling pathway
    • BMP signaling pathway
    • pathway-restricted SMAD protein phosphorylation
    • positive regulation of pathway-restricted SMAD protein phosphorylation
    • positive regulation of transcription, DNA-templated

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Summary text based on GO annotations supported by structural data

• Gdf6 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
  • is located in the following cellular components:
    • extracellular region

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Gdf6 indicates that it:
  • 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. Li W et al. (1998) Neuronal differentiation of precursors in the neocortical ventricular zone is triggered by BMP. J Neurosci, 18:8853-62. (PubMed:9786991)
2. Mazerbourg S et al. (2005) Identification of receptors and signaling pathways for orphan bone morphogenetic protein/growth differentiation factor ligands based on genomic analyses. J Biol Chem, 280:32122-32. (PubMed:16049014)

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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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