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

GO curators for mouse genes have assigned the following annotations to the gene product of Egr2. (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 transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 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 Egr2
  • participates in the following biological processes:
    • cellular response to organic substance ^[6]
    • positive regulation of transcription from RNA polymerase II promoter ^[13]
    • positive regulation of transcription, DNA-dependent ^[3]
    • protein export from nucleus ^[3]
    • rhythmic behavior ^[8]
    • transcription from RNA polymerase II promoter ^[1]
  • performs the following molecular functions:
    • chromatin binding ^[3]
    • DNA binding ^{[13, 14]}
    • sequence-specific DNA binding transcription factor activity ^{[3, 13]}
    • transcription regulatory region DNA binding ^[3]
  • is located in the following cellular components:
    • cytoplasm ^[3]
    • nucleus ^{[2, 3, 4]}
• The gene product of Egr2 has been shown to bind to the gene products of Cited1, Pias2, Sfn. ^{[3, 4]} Researchers have inferred, based on physical interactions, that the gene product of Egr2
  • performs the following molecular functions:
    • RNA polymerase II activating transcription factor binding ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Egr2
  • participates in the following biological processes:
    • brain segmentation ^[12]
    • fat cell differentiation ^[1]
    • myelination ^{[5, 9]}
    • regulation of ossification ^[10]
    • regulation of transcription, DNA-dependent ^{[5, 9]}
    • rhombomere 3 formation ^[12]
    • rhombomere 5 formation ^[12]
    • rhythmic behavior ^[8]
    • Schwann cell differentiation ^[9]
    • skeletal muscle cell differentiation ^[11]
  • performs the following molecular functions:
    • sequence-specific DNA binding transcription factor activity ^[5]
• Researchers have inferred, based on genetic interactions, that the gene product of Egr2
  • participates in the following biological processes:
    • facial nerve structural organization based on interactions with Hoxa1 ^[7]
    • motor neuron axon guidance based on interactions with Hoxa1 ^[7]
    • rhombomere 3 development based on interactions with Hoxa1 ^[7]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Egr2
  • is located in the following cellular components:
    • nucleus ^[5]

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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 Egr2:
  • participates in the following biological processes:
    • response to insulin stimulus
  • performs the following molecular functions:
    • HMG box domain binding
    • sequence-specific DNA binding transcription factor activity
    • ubiquitin protein ligase binding

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Summary text based on GO annotations supported by structural data

• Egr2 encodes a protein or proteins that contain the following InterPro domains: Protein of unknown function DUF3446, Zinc finger C2H2-type/integrase DNA-binding domain, Zinc finger, C2H2, Zinc finger, C2H2-like, indicating that the gene product:
  • performs the following molecular functions:
    • nucleic acid binding
    • zinc ion binding
  • is located in the following cellular components:
    • intracellular

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Egr2 indicates that it:
  • participates in the following biological processes:
    • transcription, DNA-dependent
  • performs the following molecular functions:
    • ligase activity
    • metal ion binding

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References

1. Birsoy K et al. (2008) Transcriptional regulation of adipogenesis by KLF4. Cell Metab, 7:339-47. (PubMed:18396140)
2. Darbas A et al. (2004) Cell autonomy of the mouse claw paw mutation. Dev Biol, 272:470-82. (PubMed:15282162)
3. Dillon RL et al. (2007) An EGR2/CITED1 transcription factor complex and the 14-3-3sigma tumor suppressor are involved in regulating ErbB2 expression in a transgenic-mouse model of human breast cancer. Mol Cell Biol, 27:8648-57. (PubMed:17938205)
4. Garcia-Dominguez M et al. (2006) PIASxbeta acts as an activator of Hoxb1 and is antagonized by Krox20 during hindbrain segmentation. EMBO J, 25:2432-42. (PubMed:16675951)
5. Garratt AN et al. (2000) A dual role of erbB2 in myelination and in expansion of the schwann cell precursor pool. J Cell Biol, 148:1035-46. (PubMed:10704452)
6. Gimferrer I et al. (2011) Regulation of GATA-3 Expression during CD4 Lineage Differentiation. J Immunol, 186:3892-8. (PubMed:21357543)
7. Helmbacher F et al. (1998) Hoxa1 and Krox-20 synergize to control the development of rhombomere 3. Development, 125:4739-48. (PubMed:9806922)
8. Jacquin TD et al. (1996) Reorganization of pontine rhythmogenic neuronal networks in Krox-20 knockout mice. Neuron, 17:747-58. (PubMed:8893031)
9. Le N et al. (2005) Nab proteins are essential for peripheral nervous system myelination. Nat Neurosci, 8:932-40. (PubMed:16136673)
10. Levi G et al. (1996) Defective bone formation in Krox-20 mutant mice. Development, 122:113-20. (PubMed:8565822)
11. Rajan S et al. (2011) Analysis of early C2C12 myogenesis identifies stably and differentially expressed transcriptional regulators whose knock-down inhibits myoblast differentiation. Physiol Genomics, null:null. (PubMed:22147266)
12. Schneider-Maunoury S et al. (1993) Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain. Cell, 75:1199-214. (PubMed:7903221)
13. Sham MH et al. (1993) The zinc finger gene Krox20 regulates HoxB2 (Hox2.8) during hindbrain segmentation. Cell, 72:183-96. (PubMed:8093858)
14. Vesque C et al. (1996) Hoxb-2 transcriptional activation in rhombomeres 3 and 5 requires an evolutionarily conserved cis-acting element in addition to the Krox-20 binding site. EMBO J, 15:5383-96. (PubMed:8895582)

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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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