Entry - *602224 - EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 2; EIF4EBP2 - OMIM
 
* 602224

EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 2; EIF4EBP2


Alternative titles; symbols

4EBP2


HGNC Approved Gene Symbol: EIF4EBP2

Cytogenetic location: 10q22.1     Genomic coordinates (GRCh38): 10:70,404,145-70,428,618 (from NCBI)


TEXT

Cloning and Expression

Pause et al. (1994) reported that the 4EBP2 gene encodes a 120-amino acid polypeptide that is 56% identical to that of 4EBP1 (602223). By Northern blot analysis, Tsukiyama-Kohara et al. (1996) showed that a major 3.5-kb transcript of 4EBP2 is expressed ubiquitously.


Gene Structure

Tsukiyama-Kohara et al. (1996) analyzed the genomic structure of the mouse EIF4EBP2 gene and showed that it consists of 3 exons and spans 20 kb. Its intron/exon structure is identical to that of EIF4EBP1.

Colina et al. (2008) showed that translational control is critical for induction of type I interferon (see 147570) production. In mouse embryonic fibroblasts lacking the translational repressors 4Ebp1 and 4Ebp2, the threshold for eliciting type I interferon production is lowered. Consequently, replication of encephalomyocarditis virus, vesicular stomatitis virus, influenza virus, and Sindbis virus is markedly suppressed. Furthermore, Colina et al. (2008) showed that mice with both 4Ebp1 and 4Ebp2 genes knocked out are resistant to vesicular stomatitis virus infection, and this correlates with an enhanced type I interferon production in plasmacytoid dendritic cells and the expression of interferon-regulated genes in the lungs. The enhanced type I interferon response of 4Ebp1 -/- 4Ebp2 -/- double knockout mouse embryonic fibroblasts is caused by upregulation of interferon regulatory factor-7 (Irf7; 605047) mRNA translation. Colina et al. (2008) found that their findings highlighted the role of 4EBPs as negative regulators of type I interferon production, via translational repression of IRF7 mRNA.


Gene Function

Dowling et al. (2010) inhibited the mTORC1 (601231) pathway in cells lacking EIF4EBP1, EIF4EBP2, and EIF4EBP3 (603483) and analyzed the effects on cell size, cell proliferation, and cell cycle progression. Although the EIF4EBPs had no effect on cell size, they inhibited cell proliferation by selectively inhibiting the translation of mRNAs that encode proliferation-promoting proteins and proteins involved in cell cycle progression. Thus, Dowling et al. (2010) concluded that control of cell size and cell cycle progression appear to be independent in mammalian cells, whereas in lower eukaryotes, EIF4E binding proteins influence both cell growth and proliferation.


Mapping

Using fluorescence in situ hybridization, Tsukiyama-Kohara et al. (1996) mapped the EIF4EBP2 gene to human chromosome 10q21-q22. They noted that chromosomal alterations in this region have been found in some human cancers. Tsukiyama-Kohara et al. (1996) mapped the mouse 4EBP2 gene to chromosome 10B4-B5.


Animal Model

Gkogkas et al. (2013) demonstrated that knockout of EIF4EBP2, (an EIF4E (133440) repressor downstream of MTOR), or EIF4E overexpression leads to increased translation of neuroligins, which are postsynaptic proteins that are causally linked to autism spectrum disorders (ASDs). Mice with knockout of Eif4ebp2 exhibit an increased ratio of excitatory to inhibitory synaptic inputs and autistic-like behaviors (i.e., social interaction deficits, altered communication, and repetitive/stereotyped behaviors). Pharmacologic inhibition of Eif4e activity or normalization of neuroligin-1 (600568), but not neuroligin-2 (606479), protein levels restored the normal excitation/inhibition ratio and rectified the social behavior deficits. Thus, Gkogkas et al. (2013) concluded that translational control by EIF4E regulates the synthesis of neuroligins, maintaining the excitation-to-inhibition balance, and its dysregulation engenders ASD-like phenotypes.


REFERENCES

  1. Colina, R., Costa-Mattioli, M., Dowling, R. J. O., Jaramillo, M., Tai, L.-H., Breitbach, C. J., Martineau, Y., Larsson, O., Rong, L., Svitkin, Y. V., Makrigiannis, A. P., Bell, J. C., Sonenberg, N. Translational control of the innate immune response through IRF-7. Nature 452: 323-328, 2008. [PubMed: 18272964, related citations] [Full Text]

  2. Dowling, R. J. O., Topisirovic, I., Alain, T., Bidinosti, M., Fonseca, B. D., Petroulakis, E., Wang, X., Larsson, O., Selvaraj, A., Liu, Y., Kozma, S. C., Thomas, G., Sonenberg, N. mTORC1-mediated cell proliferation, but not cell growth, controlled by the 4E-BPs. Science 328: 1172-1176, 2010. [PubMed: 20508131, images, related citations] [Full Text]

  3. Gkogkas, C. G., Khoutorsky A., Ran, I., Rampakakis, E., Nevarko, T., Weatherill, D. B., Vasuta, C., Yee, S., Truitt, M., Dallaire, P., Major, F., Lasko, P., Ruggero, D., Nader, K., Lacaille, J.-C., Sonenberg, N. Autism-related deficits via dysregulated eIF4E-dependent translational control. Nature 493: 371-377, 2013. [PubMed: 23172145, images, related citations] [Full Text]

  4. Pause, A., Belsham, G. J., Gingras, A.-C., Donze, O., Lin, T.-A., Lawrence, J. C., Jr., Sonenberg, N. Insulin-dependent stimulation of protein synthesis by phosphorylation of a regulator of 5-prime-cap function. Nature 371: 762-767, 1994. [PubMed: 7935836, related citations] [Full Text]

  5. Tsukiyama-Kohara, K., Vidal, S. M., Gingras, A.-C., Glover, T. W., Hanash, S. M., Heng, H., Sonenberg, N. Tissue distribution, genomic structure, and chromosome mapping of mouse and human eukaryotic initiation factor 4E-binding proteins 1 and 2. Genomics 38: 353-363, 1996. [PubMed: 8975712, related citations] [Full Text]


Ada Hamosh - updated : 2/20/2013
Ada Hamosh - updated : 6/14/2010
Ada Hamosh - updated : 5/22/2008
Creation Date:
Jennifer P. Macke : 1/6/1998
alopez : 02/22/2013
alopez : 2/22/2013
terry : 2/20/2013
alopez : 9/24/2012
terry : 9/20/2012
alopez : 6/18/2010
terry : 6/14/2010
alopez : 5/28/2008
terry : 5/22/2008
psherman : 12/1/1998
alopez : 1/16/1998
alopez : 1/6/1998

* 602224

EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 2; EIF4EBP2


Alternative titles; symbols

4EBP2


HGNC Approved Gene Symbol: EIF4EBP2

Cytogenetic location: 10q22.1     Genomic coordinates (GRCh38): 10:70,404,145-70,428,618 (from NCBI)


TEXT

Cloning and Expression

Pause et al. (1994) reported that the 4EBP2 gene encodes a 120-amino acid polypeptide that is 56% identical to that of 4EBP1 (602223). By Northern blot analysis, Tsukiyama-Kohara et al. (1996) showed that a major 3.5-kb transcript of 4EBP2 is expressed ubiquitously.


Gene Structure

Tsukiyama-Kohara et al. (1996) analyzed the genomic structure of the mouse EIF4EBP2 gene and showed that it consists of 3 exons and spans 20 kb. Its intron/exon structure is identical to that of EIF4EBP1.

Colina et al. (2008) showed that translational control is critical for induction of type I interferon (see 147570) production. In mouse embryonic fibroblasts lacking the translational repressors 4Ebp1 and 4Ebp2, the threshold for eliciting type I interferon production is lowered. Consequently, replication of encephalomyocarditis virus, vesicular stomatitis virus, influenza virus, and Sindbis virus is markedly suppressed. Furthermore, Colina et al. (2008) showed that mice with both 4Ebp1 and 4Ebp2 genes knocked out are resistant to vesicular stomatitis virus infection, and this correlates with an enhanced type I interferon production in plasmacytoid dendritic cells and the expression of interferon-regulated genes in the lungs. The enhanced type I interferon response of 4Ebp1 -/- 4Ebp2 -/- double knockout mouse embryonic fibroblasts is caused by upregulation of interferon regulatory factor-7 (Irf7; 605047) mRNA translation. Colina et al. (2008) found that their findings highlighted the role of 4EBPs as negative regulators of type I interferon production, via translational repression of IRF7 mRNA.


Gene Function

Dowling et al. (2010) inhibited the mTORC1 (601231) pathway in cells lacking EIF4EBP1, EIF4EBP2, and EIF4EBP3 (603483) and analyzed the effects on cell size, cell proliferation, and cell cycle progression. Although the EIF4EBPs had no effect on cell size, they inhibited cell proliferation by selectively inhibiting the translation of mRNAs that encode proliferation-promoting proteins and proteins involved in cell cycle progression. Thus, Dowling et al. (2010) concluded that control of cell size and cell cycle progression appear to be independent in mammalian cells, whereas in lower eukaryotes, EIF4E binding proteins influence both cell growth and proliferation.


Mapping

Using fluorescence in situ hybridization, Tsukiyama-Kohara et al. (1996) mapped the EIF4EBP2 gene to human chromosome 10q21-q22. They noted that chromosomal alterations in this region have been found in some human cancers. Tsukiyama-Kohara et al. (1996) mapped the mouse 4EBP2 gene to chromosome 10B4-B5.


Animal Model

Gkogkas et al. (2013) demonstrated that knockout of EIF4EBP2, (an EIF4E (133440) repressor downstream of MTOR), or EIF4E overexpression leads to increased translation of neuroligins, which are postsynaptic proteins that are causally linked to autism spectrum disorders (ASDs). Mice with knockout of Eif4ebp2 exhibit an increased ratio of excitatory to inhibitory synaptic inputs and autistic-like behaviors (i.e., social interaction deficits, altered communication, and repetitive/stereotyped behaviors). Pharmacologic inhibition of Eif4e activity or normalization of neuroligin-1 (600568), but not neuroligin-2 (606479), protein levels restored the normal excitation/inhibition ratio and rectified the social behavior deficits. Thus, Gkogkas et al. (2013) concluded that translational control by EIF4E regulates the synthesis of neuroligins, maintaining the excitation-to-inhibition balance, and its dysregulation engenders ASD-like phenotypes.


REFERENCES

  1. Colina, R., Costa-Mattioli, M., Dowling, R. J. O., Jaramillo, M., Tai, L.-H., Breitbach, C. J., Martineau, Y., Larsson, O., Rong, L., Svitkin, Y. V., Makrigiannis, A. P., Bell, J. C., Sonenberg, N. Translational control of the innate immune response through IRF-7. Nature 452: 323-328, 2008. [PubMed: 18272964] [Full Text: https://doi.org/10.1038/nature06730]

  2. Dowling, R. J. O., Topisirovic, I., Alain, T., Bidinosti, M., Fonseca, B. D., Petroulakis, E., Wang, X., Larsson, O., Selvaraj, A., Liu, Y., Kozma, S. C., Thomas, G., Sonenberg, N. mTORC1-mediated cell proliferation, but not cell growth, controlled by the 4E-BPs. Science 328: 1172-1176, 2010. [PubMed: 20508131] [Full Text: https://doi.org/10.1126/science.1187532]

  3. Gkogkas, C. G., Khoutorsky A., Ran, I., Rampakakis, E., Nevarko, T., Weatherill, D. B., Vasuta, C., Yee, S., Truitt, M., Dallaire, P., Major, F., Lasko, P., Ruggero, D., Nader, K., Lacaille, J.-C., Sonenberg, N. Autism-related deficits via dysregulated eIF4E-dependent translational control. Nature 493: 371-377, 2013. [PubMed: 23172145] [Full Text: https://doi.org/10.1038/nature11628]

  4. Pause, A., Belsham, G. J., Gingras, A.-C., Donze, O., Lin, T.-A., Lawrence, J. C., Jr., Sonenberg, N. Insulin-dependent stimulation of protein synthesis by phosphorylation of a regulator of 5-prime-cap function. Nature 371: 762-767, 1994. [PubMed: 7935836] [Full Text: https://doi.org/10.1038/371762a0]

  5. Tsukiyama-Kohara, K., Vidal, S. M., Gingras, A.-C., Glover, T. W., Hanash, S. M., Heng, H., Sonenberg, N. Tissue distribution, genomic structure, and chromosome mapping of mouse and human eukaryotic initiation factor 4E-binding proteins 1 and 2. Genomics 38: 353-363, 1996. [PubMed: 8975712] [Full Text: https://doi.org/10.1006/geno.1996.0638]


Contributors:
Ada Hamosh - updated : 2/20/2013
Ada Hamosh - updated : 6/14/2010
Ada Hamosh - updated : 5/22/2008

Creation Date:
Jennifer P. Macke : 1/6/1998

Edit History:
alopez : 02/22/2013
alopez : 2/22/2013
terry : 2/20/2013
alopez : 9/24/2012
terry : 9/20/2012
alopez : 6/18/2010
terry : 6/14/2010
alopez : 5/28/2008
terry : 5/22/2008
psherman : 12/1/1998
alopez : 1/16/1998
alopez : 1/6/1998