Entry - *600428 - VAV GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; VAV2 - OMIM
 
* 600428

VAV GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; VAV2


Alternative titles; symbols

VAV2 ONCOGENE
ONCOGENE VAV2


HGNC Approved Gene Symbol: VAV2

Cytogenetic location: 9q34.2     Genomic coordinates (GRCh38): 9:133,761,894-133,992,324 (from NCBI)


TEXT

Cloning and Expression

Henske et al. (1995) isolated a new member of the VAV oncogene family, VAV2, by hybridization with an exon trapped from cosmids which showed sequence similarity to VAV1 (164875). Unlike VAV1, which is expressed exclusively in hematopoietic cells and thought to have an important role in cell signaling, VAV2 transcripts were found in most tissues. The predicted protein has a reading frame encoding 872 amino acids and shows the same domains characterized in VAV1.


Gene Structure

Using genomic sequence analysis, Denkinger et al. (2000) determined that VAV2 contains 30 exons spanning 227 kb. Its overall exon organization is similar to that of VAV1. Alternative splicing of exons 6, 16, and 28 generates at least 2 distinct VAV2 mRNA species.


Mapping

Henske et al. (1995) mapped the VAV2 gene to chromosome 9q34.


Gene Function

Moores et al. (2000) expressed VAV1, VAV2, and VAV3 (605541) at equivalent levels and found that each responds to similar surface receptor tyrosine kinases. Integrin-induced phosphorylation required the presence of SYK (600085). Only VAV1 could efficiently cooperate with T-cell receptor (TCR; see 186880) signaling to enhance NFAT (600489)-dependent transcription, while only VAV1 and VAV3 could enhance nuclear factor kappa-B (NFKB; see 164011)-dependent transcription.

Bustelo (2000) presented a comprehensive review of the regulatory and signaling properties of the VAV family.


REFERENCES

  1. Bustelo, X. R. Regulatory and signaling properties of the Vav family. Molec. Cell. Biol. 20: 1461-1477, 2000. [PubMed: 10669724, images, related citations] [Full Text]

  2. Denkinger, D. J., Borges, C. R., Butler, C. L., Cushman, A. M., Kawahara, R. S. Genomic organization and regulation of the vav proto-oncogene. Biochim. Biophys. Acta 1491: 253-262, 2000. [PubMed: 10760587, related citations] [Full Text]

  3. Henske, E. P., Short, M. P., Jozwiak, S., Bovey, C. M., Ramlakhan, S., Haines, J. L., Kwiatkowski, D. J. Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1. Ann. Hum. Genet. 59: 25-37, 1995. [PubMed: 7762982, related citations] [Full Text]

  4. Moores, S. L., Selfors, L. M., Fredericks, J., Breit, T., Fujikawa, K., Alt, F. W., Brugge, J. S., Swat, W. Vav family proteins couple to diverse cell surface receptors. Molec. Cell. Biol. 20: 6364-6373, 2000. [PubMed: 10938113, images, related citations] [Full Text]


Paul J. Converse - updated : 1/9/2001
Paul J. Converse - updated : 10/12/2000
Creation Date:
Victor A. McKusick : 2/24/1995
carol : 04/13/2022
carol : 02/18/2010
mgross : 1/9/2001
mgross : 1/9/2001
mcapotos : 10/19/2000
mcapotos : 10/17/2000
terry : 10/12/2000
jamie : 2/5/1997
mark : 6/10/1996
terry : 4/19/1995
carol : 2/27/1995
carol : 2/24/1995

* 600428

VAV GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; VAV2


Alternative titles; symbols

VAV2 ONCOGENE
ONCOGENE VAV2


HGNC Approved Gene Symbol: VAV2

Cytogenetic location: 9q34.2     Genomic coordinates (GRCh38): 9:133,761,894-133,992,324 (from NCBI)


TEXT

Cloning and Expression

Henske et al. (1995) isolated a new member of the VAV oncogene family, VAV2, by hybridization with an exon trapped from cosmids which showed sequence similarity to VAV1 (164875). Unlike VAV1, which is expressed exclusively in hematopoietic cells and thought to have an important role in cell signaling, VAV2 transcripts were found in most tissues. The predicted protein has a reading frame encoding 872 amino acids and shows the same domains characterized in VAV1.


Gene Structure

Using genomic sequence analysis, Denkinger et al. (2000) determined that VAV2 contains 30 exons spanning 227 kb. Its overall exon organization is similar to that of VAV1. Alternative splicing of exons 6, 16, and 28 generates at least 2 distinct VAV2 mRNA species.


Mapping

Henske et al. (1995) mapped the VAV2 gene to chromosome 9q34.


Gene Function

Moores et al. (2000) expressed VAV1, VAV2, and VAV3 (605541) at equivalent levels and found that each responds to similar surface receptor tyrosine kinases. Integrin-induced phosphorylation required the presence of SYK (600085). Only VAV1 could efficiently cooperate with T-cell receptor (TCR; see 186880) signaling to enhance NFAT (600489)-dependent transcription, while only VAV1 and VAV3 could enhance nuclear factor kappa-B (NFKB; see 164011)-dependent transcription.

Bustelo (2000) presented a comprehensive review of the regulatory and signaling properties of the VAV family.


REFERENCES

  1. Bustelo, X. R. Regulatory and signaling properties of the Vav family. Molec. Cell. Biol. 20: 1461-1477, 2000. [PubMed: 10669724] [Full Text: https://doi.org/10.1128/MCB.20.5.1461-1477.2000]

  2. Denkinger, D. J., Borges, C. R., Butler, C. L., Cushman, A. M., Kawahara, R. S. Genomic organization and regulation of the vav proto-oncogene. Biochim. Biophys. Acta 1491: 253-262, 2000. [PubMed: 10760587] [Full Text: https://doi.org/10.1016/s0167-4781(00)00008-7]

  3. Henske, E. P., Short, M. P., Jozwiak, S., Bovey, C. M., Ramlakhan, S., Haines, J. L., Kwiatkowski, D. J. Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1. Ann. Hum. Genet. 59: 25-37, 1995. [PubMed: 7762982] [Full Text: https://doi.org/10.1111/j.1469-1809.1995.tb01603.x]

  4. Moores, S. L., Selfors, L. M., Fredericks, J., Breit, T., Fujikawa, K., Alt, F. W., Brugge, J. S., Swat, W. Vav family proteins couple to diverse cell surface receptors. Molec. Cell. Biol. 20: 6364-6373, 2000. [PubMed: 10938113] [Full Text: https://doi.org/10.1128/MCB.20.17.6364-6373.2000]


Contributors:
Paul J. Converse - updated : 1/9/2001
Paul J. Converse - updated : 10/12/2000

Creation Date:
Victor A. McKusick : 2/24/1995

Edit History:
carol : 04/13/2022
carol : 02/18/2010
mgross : 1/9/2001
mgross : 1/9/2001
mcapotos : 10/19/2000
mcapotos : 10/17/2000
terry : 10/12/2000
jamie : 2/5/1997
mark : 6/10/1996
terry : 4/19/1995
carol : 2/27/1995
carol : 2/24/1995