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Gene Review

CREB3L2  -  cAMP responsive element binding protein 3...

Homo sapiens

Synonyms: BBF2 human homolog on chromosome 7, BBF2H7, Cyclic AMP-responsive element-binding protein 3-like protein 2, TCAG_1951439, cAMP-responsive element-binding protein 3-like protein 2
 
 
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Disease relevance of CREB3L2

 

High impact information on CREB3L2

  • We here show that a t(7;16)(q33;p11) in two cases of low grade fibromyxoid sarcoma fuses the FUS gene to BBF2H7, a previously uncharacterized gene that is homologous to the Drosophila Bbf-2 gene [2].
  • BBF2H7 spans more than 120 kbp genomic DNA, is composed of 12 exons and contains a 1560 bp open reading frame [2].
  • The results of the present study show that CREB3L2 is not only structurally, but also functionally very similar to CREB3L1 [3].
  • CREB3L2 constructs containing the first 120 amino acids (aa) showed the highest transcriptional activation [3].
  • In the present study, the authors assessed various cellular outcomes after transfection of NIH3T3 and HEK-293 cells with constructs containing full-length and truncated versions of CREB3L2 and FUS/CREB3L2 [3].
 

Biological context of CREB3L2

  • The breakpoints in the fusion transcripts were always in exons 6 or 7 of FUS and exon 5 of CREB3L2 [1].
  • Cytogenetic analyses have identified a recurrent balanced translocation t(7;16) (q32-34;p11), later shown by molecular genetic approaches to result in a FUS/CREB3L2 fusion gene [4].
  • A closely related but morphologically distinct tumor, the so-called hyalinizing spindle cell tumor with giant rosettes, has also been described; both neoplasms share the same cytogenetic abnormality, a balanced translocation resulting in a FUS/CREB3L2 fusion gene [5].
 

Other interactions of CREB3L2

  • Of the 59 tumors analyzed, 12 were FUS/CREB3L2-positive, all of which were diagnosed at histopathologic re-examination as being LGFMS, of both the classical subtype and the subtype with giant collagen rosettes [1].
  • In one of the tumors with typical LGFMS appearance, we found that FUS was fused to the CREB3L1 gene instead of CREB3L2 [4].
 

Analytical, diagnostic and therapeutic context of CREB3L2

References

  1. The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma. Panagopoulos, I., Storlazzi, C.T., Fletcher, C.D., Fletcher, J.A., Nascimento, A., Domanski, H.A., Wejde, J., Brosjö, O., Rydholm, A., Isaksson, M., Mandahl, N., Mertens, F. Genes Chromosomes Cancer (2004) [Pubmed]
  2. Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma. Storlazzi, C.T., Mertens, F., Nascimento, A., Isaksson, M., Wejde, J., Brosjo, O., Mandahl, N., Panagopoulos, I. Hum. Mol. Genet. (2003) [Pubmed]
  3. Characterization of the native CREB3L2 transcription factor and the FUS/CREB3L2 chimera. Panagopoulos, I., M??ller, E., Dahl??n, A., Isaksson, M., Mandahl, N., Vlamis-Gardikas, A., Mertens, F. Genes Chromosomes Cancer (2007) [Pubmed]
  4. Clinicopathologic and molecular genetic characterization of low-grade fibromyxoid sarcoma, and cloning of a novel FUS/CREB3L1 fusion gene. Mertens, F., Fletcher, C.D., Antonescu, C.R., Coindre, J.M., Colecchia, M., Domanski, H.A., Downs-Kelly, E., Fisher, C., Goldblum, J.R., Guillou, L., Reid, R., Rosai, J., Sciot, R., Mandahl, N., Panagopoulos, I. Lab. Invest. (2005) [Pubmed]
  5. Low-grade fibromyxoid sarcoma: a brief review. Vernon, S.E., Bejarano, P.A. Arch. Pathol. Lab. Med. (2006) [Pubmed]
 
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