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Gene Review

CDC42SE2  -  CDC42 small effector 2

Homo sapiens

Synonyms: CDC42 small effector protein 2, FLJ21967, SPEC2, Small effector of CDC42 protein 2
 
 
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Disease relevance of CDC42SE2

  • The other phage contain only partial homology to pSpec1 and pSpec2, 150 to 200 base pairs of the 3' untranslated region of the Spec1 and Spec2 mRNAs [1].
 

High impact information on CDC42SE2

  • We typed 289 SNPs in the critical interval of 8 million basepairs and found a 758 kb interval coding for the SPEC2/PDZ-GEF2/ACSL6 genes to be associated with the disease [2].
  • From these data, we concluded that haplotypes underlying the SPEC2/PDZ-GEF2/ACSL6 region are associated with schizophrenia [2].
  • This cDNA clone encodes a L. variegatus homologue of LpS1, recently demonstrated to be an ancestral homologue of the aboral ectoderm-specific Spec 1-Spec 2 gene family in S. purpuratus [3].
  • Recruitment of SPEC2 within Jurkat T cells to the antigen-presenting cell interface occurred following incubation with staphylococcal enterotoxin E superantigen-loaded B cells and colocalized there with F-actin and Cdc42 [4].
  • We investigated the role of SPEC2 in T cell function due to its high mRNA expression in lymphocytes [4].
 

Biological context of CDC42SE2

  • T cell receptor (TCR) activation studies using anti-CD3 antibody-coated polystyrene beads showed that SPEC2 was recruited to the site of bead contact, which was not observed with anti-major histocompatibility complex antibody-coated beads [4].
  • This sequence also contains a 40 nucleotide region that is related to several tRNA sequences (containing the B box), and a 79 nucleotide sequence which is homologous to a repeated sequence previously shown to be present within the 3' untranslated portions of the Spec1 and Spec2 mRNAs of this species (1) [5].
  • The sequence of LpS1 reveals the presence of eight EF-hand domains, which share structural homology with the Spec1 or Spec2 EF-hands; however, little else in the protein sequence is conserved [6].
  • The element is present at 2000 to 3000 copies per genome and may be transcribed at some sites other than those coding for the Spec1 and Spec2 genes [1].
  • Activation of the aboral ectoderm-specific Spec2a gene in blastula-stage sea urchin embryos requires an upstream regulatory region that is part of a repetitive sequence element (RSR) associated with all Spec1/Spec2 genes [7].
 

Anatomical context of CDC42SE2

 

Associations of CDC42SE2 with chemical compounds

  • Biochemical studies with Jurkat T cells demonstrated that N-terminal cysteine residues in SPEC2 were palmitoylated [4].

References

  1. The 3' untranslated regions of two related mRNAs contain an element highly repeated in the sea urchin genome. Carpenter, C.D., Bruskin, A.M., Spain, L.M., Eldon, E.D., Klein, W.H. Nucleic Acids Res. (1982) [Pubmed]
  2. Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated with schizophrenia. Chen, X., Wang, X., Hossain, S., O'neill, F.A., Walsh, D., Pless, L., Chowdari, K.V., Nimgaonkar, V.L., Schwab, S.G., Wildenauer, D.B., Sullivan, P.F., van den Oord, E., Kendler, K.S. Hum. Mol. Genet. (2006) [Pubmed]
  3. Transcription of the Spec 1-like gene of Lytechinus is selectively inhibited in response to disruption of the extracellular matrix. Wessel, G.M., Zhang, W., Tomlinson, C.R., Lennarz, W.J., Klein, W.H. Development (1989) [Pubmed]
  4. The role of SPECs, small Cdc42-binding proteins, in F-actin accumulation at the immunological synapse. Ching, K.H., Kisailus, A.E., Burbelo, P.D. J. Biol. Chem. (2005) [Pubmed]
  5. Identification of a repeated sequence in the genome of the sea urchin which is transcribed by RNA polymerase III and contains the features of a retroposon. Nisson, P.E., Hickey, R.J., Boshar, M.F., Crain, W.R. Nucleic Acids Res. (1988) [Pubmed]
  6. Tandem duplication and divergence of a sea urchin protein belonging to the troponin C superfamily. Xiang, M.Q., Bédard, P.A., Wessel, G., Filion, M., Brandhorst, B.P., Klein, W.H. J. Biol. Chem. (1988) [Pubmed]
  7. A positive cis-regulatory element with a bicoid target site lies within the sea urchin Spec2a enhancer. Gan, L., Klein, W.H. Dev. Biol. (1993) [Pubmed]
  8. Biochemical characterization of distinct regions of SPEC molecules and their role in phagocytosis. Ching, K.H., Kisailus, A.E., Burbelo, P.D. Exp. Cell Res. (2007) [Pubmed]
 
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