Gene Symbol: BBF2H7
Description: cAMP responsive element binding protein 3 like 2
Alias: BBF2H7, cyclic AMP-responsive element-binding protein 3-like protein 2, B-ZIB transcription factor, BBF2 human homolog on chromosome 7, FUS/BBF2H7 protein, TCAG_1951439, basic transcription factor 2, cAMP-responsive element-binding protein 3-like protein 2
Species: human
Products:     BBF2H7

Top Publications

  1. Storlazzi C, Mertens F, Nascimento A, Isaksson M, Wejde J, Brosjo O, et al. Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma. Hum Mol Genet. 2003;12:2349-58 pubmed
    ..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. Kondo S, Saito A, Hino S, Murakami T, Ogata M, Kanemoto S, et al. BBF2H7, a novel transmembrane bZIP transcription factor, is a new type of endoplasmic reticulum stress transducer. Mol Cell Biol. 2007;27:1716-29 pubmed
    ..We report here that BBF2H7 (BBF2 human homolog on chromosome 7), an ER-resident transmembrane protein with the bZIP domain in the cytoplasmic portion and ..
  3. Kondo Y, Fu J, Wang H, Hoover C, McDaniel J, Steet R, et al. Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. JCI Insight. 2018;3: pubmed publisher
    ..The defective S1P function specifically impairs activation of the ER stress transducer BBF2H7, leading to ER retention of collagen in chondrocytes...
  4. Al Maskari M, Care M, Robinson E, Cocco M, Tooze R, Doody G. Site-1 protease function is essential for the generation of antibody secreting cells and reprogramming for secretory activity. Sci Rep. 2018;8:14338 pubmed publisher
    ..These results demonstrate that transcriptional control of metabolic programs necessary for secretory activity can be targeted via site-1 protease inhibition during ASC differentiation. ..
  5. Alfaro Cervello C, Benavent Casanova O, Nieto G, Mares Diago F, Navarro S. [Low-grade fibromyxoid sarcoma, an essential differential diagnosis in myxoid tumors with benign appearance]. Rev Esp Patol. 2018;51:178-182 pubmed publisher
    ..We review the differential diagnosis of soft-tissue myxoid tumors, especially those with a benign appearance, highlighting the importance of immunohistochemical and molecular studies to rule out low-grade fibromyxoid sarcoma. ..
  6. Thway K, Chisholm J, Hayes A, Swansbury J, Fisher C. Pediatric low-grade fibromyxoid sarcoma mimicking ossifying fibromyxoid tumor: adding to the diagnostic spectrum of soft tissue tumors with a bony shell. Hum Pathol. 2015;46:461-6 pubmed publisher
  7. Kurisaki Arakawa A, Akaike K, Tomomasa R, Arakawa A, Suehara Y, Takagi T, et al. A case of low-grade fibromyxoid sarcoma with unusual central necrosis in a 77-year-old man confirmed by FUS-CREB3L2 gene fusion. Int J Surg Case Rep. 2014;5:1123-7 pubmed publisher
    ..To the best of our knowledge, this is the second oldest patient to be diagnosed with LGFMS. At the time of this report, the patient was alive with no evidence of the disease 4 months after diagnosis without any adjuvant therapy. ..
  8. Vogels R, Baumhoer D, van Gorp J, Eijkelenboom A, Verdijk M, van Cleef P, et al. Clear Cell Odontogenic Carcinoma: Occurrence of EWSR1-CREB1 as Alternative Fusion Gene to EWSR1-ATF1. Head Neck Pathol. 2018;: pubmed publisher
    ..The other three cases investigated by FISH were negative for ATF1, CREB1 and CREB3L2. In conclusion, our data show that EWSR1-CREB1 is an alternative fusion gene to EWSR1-ATF1 in CCOC. ..
  9. Kurisaki Arakawa A, Suehara Y, Arakawa A, Takagi T, Takahashi M, Mitani K, et al. Deeply located low-grade fibromyxoid sarcoma with FUS-CREB3L2 gene fusion in a 5-year-old boy with review of literature. Diagn Pathol. 2014;9:163 pubmed publisher
    ..The patient is still alive with no evidence of the disease 4 months after diagnosis. The virtual slide(s) for this article can be found here: ..

More Information


  1. Chang C, Chang Y, Huang H, Yeh K, Liu T, Chang J. Determination of the mutational landscape in Taiwanese patients with papillary thyroid cancer by whole-exome sequencing. Hum Pathol. 2018;78:151-158 pubmed publisher
  2. Mohamed M, Fisher C, Thway K. Low-grade fibromyxoid sarcoma: Clinical, morphologic and genetic features. Ann Diagn Pathol. 2017;28:60-67 pubmed publisher
    ..We review LGFMS and SEF, discussing morphology and immunohistochemistry, genetics and molecular findings, and the differential diagnosis. ..
  3. He P, Sun L, Zhu D, Zhang H, Zhang L, Guo Y, et al. Knock-Down of Endogenous Bornavirus-Like Nucleoprotein 1 Inhibits Cell Growth and Induces Apoptosis in Human Oligodendroglia Cells. Int J Mol Sci. 2016;17:435 pubmed publisher
    ..This study provides evidence that EBLN1 plays a key role in regulating cell life and death, thereby opening several avenues of investigation regarding EBLN1 in the future. ..
  4. Chien Y, Károlyi K, Kovács I. Paravertebral Low-grade Fibromyxoid Sarcoma with Supernumerary Ring Chromosome: Case Report and Literature Review. Ann Clin Lab Sci. 2016;46:90-6 pubmed
    ..Differential diagnosis with other low-grade spindle cell tumors will also be discussed along with the literature review. ..
  5. Thway K, Ng W, Benson C, Chapman J, Fisher C. DOG1 Expression in Low-Grade Fibromyxoid Sarcoma: A Study of 11 Cases, With Molecular Characterization. Int J Surg Pathol. 2015;23:454-60 pubmed publisher
    ..This is clinically pertinent, as the management and prognosis of these 2 neoplasms differs significantly. ..
  6. Looi Q, Amin H, Aini I, Zuki M, Omar A. De novo transcriptome analysis shows differential expression of genes in salivary glands of edible bird's nest producing swiftlets. BMC Genomics. 2017;18:504 pubmed publisher
  7. Krawczyk K, Ekman M, Rippe C, Grossi M, Nilsson B, Albinsson S, et al. Assessing the contribution of thrombospondin-4 induction and ATF6? activation to endoplasmic reticulum expansion and phenotypic modulation in bladder outlet obstruction. Sci Rep. 2016;6:32449 pubmed publisher
  8. Mazari P, Weber K, Kim S, Zhang P. Cytogenetically confirmed low-grade fibromyxoid sarcoma arising from the tibia. Hum Pathol. 2016;48:56-9 pubmed publisher
    ..Herein, we describe the first ever cytogenetically confirmed case of low-grade fibromyxoid sarcoma arising as a primary bone tumor in the tibia of a 35-year-old woman. ..
  9. Fűri I, Kalmár A, Wichmann B, Spisák S, Schöller A, Barták B, et al. Cell Free DNA of Tumor Origin Induces a 'Metastatic' Expression Profile in HT-29 Cancer Cell Line. PLoS ONE. 2015;10:e0131699 pubmed publisher
    ..In contrast, DNA derived from healthy colonic epithelium induced TLR9 and STING signaling pathway in normal fibroblasts. ..
  10. He D, Marie C, Zhao C, Kim B, Wang J, Deng Y, et al. Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination. Nat Neurosci. 2016;19:678-89 pubmed publisher
  11. Li Y, Tardif G, Hum D, Kapoor M, Fahmi H, Pelletier J, et al. The unfolded protein response genes in human osteoarthritic chondrocytes: PERK emerges as a potential therapeutic target. Arthritis Res Ther. 2016;18:172 pubmed publisher
    ..Importantly, these findings identify PERK as a potential target for new OA treatment avenues. ..
  12. Cowan M, Thompson L, Leon M, Bishop J. Low-Grade Fibromyxoid Sarcoma of the Head and Neck: A Clinicopathologic Series and Review of the Literature. Head Neck Pathol. 2016;10:161-6 pubmed publisher
    ..Immunohistochemical staining is helpful, but stains should be selected carefully to avoid misdiagnosis. ..
  13. Tomoishi S, Fukushima S, Shinohara K, Katada T, Saito K. CREB3L2-mediated expression of Sec23A/Sec24D is involved in hepatic stellate cell activation through ER-Golgi transport. Sci Rep. 2017;7:7992 pubmed publisher
    ..protein complex II (COPII) components, Sec23A and Sec24D, via the transmembrane bZIP transcription factor, CREB3L2/BBF2H7, during HSC activation...
  14. Creytens D, Ferdinande L, Van Dorpe J. A Sclerosing Perineurioma With Collagen Rosette Formation: Benign Mimic of Low-Grade Fibromyxoid Sarcoma. Int J Surg Pathol. 2017;:1066896917741551 pubmed publisher
  15. Panagopoulos I, Möller E, Dahlén A, Isaksson M, Mandahl N, Vlamis Gardikas A, et al. Characterization of the native CREB3L2 transcription factor and the FUS/CREB3L2 chimera. Genes Chromosomes Cancer. 2007;46:181-91 pubmed
    ..Thus, studies regarding the pathways influenced by wild-type CREB3L2 should provide valuable clues to the pathogenetic significance of the FUS/CREB3L2 chimera in low grade fibromyxoid sarcoma. ..
  16. Bartuma H, Möller E, Collin A, Domanski H, Von Steyern F, Mandahl N, et al. Fusion of the FUS and CREB3L2 genes in a supernumerary ring chromosome in low-grade fibromyxoid sarcoma. Cancer Genet Cytogenet. 2010;199:143-6 pubmed publisher
    ..Moreover, an assessment of previously reported cases showed that tumors with ring chromosomes relapsed more often than tumors with a balanced t(7;16), suggesting that ring formation in LGFMS is correlated with tumor progression. ..
  17. Panagopoulos I, Mertens F. Characterization of the human CREB3L2 gene promoter. Oncol Rep. 2009;21:615-24 pubmed
    ..The presence of the CRE site indicates autoregulation of CREB3L2 and/or regulation via other members of the CREB3 family or a variety of bZIP transcription factors. ..
  18. Iwamoto H, Matsuhisa K, Saito A, Kanemoto S, Asada R, Hino K, et al. Promotion of Cancer Cell Proliferation by Cleaved and Secreted Luminal Domains of ER Stress Transducer BBF2H7. PLoS ONE. 2015;10:e0125982 pubmed publisher
    b>BBF2H7 is an endoplasmic reticulum (ER)-resident transmembrane basic leucine zipper (bZIP) transcription factor that is cleaved at the transmembrane domain by regulated intramembrane proteolysis in response to ER stress...
  19. Ishikura Kinoshita S, Saeki H, Tsuji Naito K. BBF2H7-mediated Sec23A pathway is required for endoplasmic reticulum-to-Golgi trafficking in dermal fibroblasts to promote collagen synthesis. J Invest Dermatol. 2012;132:2010-8 pubmed publisher
    ..We demonstrate herein that the BBF2 human homolog on chromosome 7 (BBF2H7)-mediated Sec23A pathway is involved in regulation of intracellular procollagen trafficking...
  20. Arbajian E, Puls F, Antonescu C, Amary F, Sciot R, Debiec Rychter M, et al. In-depth Genetic Analysis of Sclerosing Epithelioid Fibrosarcoma Reveals Recurrent Genomic Alterations and Potential Treatment Targets. Clin Cancer Res. 2017;23:7426-7434 pubmed publisher
    ..CD24 and DMD constitute potential therapeutic targets. Clin Cancer Res; 23(23); 7426-34. ©2017 AACR. ..
  21. Darnay B, Reddy S, Aggarwal B. Physical and functional association of a serine-threonine protein kinase to the cytoplasmic domain of the p80 form of the human tumor necrosis factor receptor in human histiocytic lymphoma U-937 cells. J Biol Chem. 1994;269:19687-90 pubmed
    ..This p80 TNF receptor-associated protein and the associated kinase described here are referred to as p80-TRAP and p80-TRAK, respectively. ..
  22. Patterson J, Tchernev G, Chokoeva A, Wick M. Sclerosing epithelioid fibrosarcoma. Wien Med Wochenschr. 2017;167:120-123 pubmed publisher
    ..Recent information about SEF is briefly reviewed. ..
  23. Möller E, Hornick J, Magnusson L, Veerla S, Domanski H, Mertens F. FUS-CREB3L2/L1-positive sarcomas show a specific gene expression profile with upregulation of CD24 and FOXL1. Clin Cancer Res. 2011;17:2646-56 pubmed publisher
    ..The present study aimed to extract LGFMS-specific, and putatively FUS-CREB3L2-dependent, gene expression patterns to learn more about the pathogenesis of this tumor...
  24. Fox R, Hanlon C, Andrew D. The CrebA/Creb3-like transcription factors are major and direct regulators of secretory capacity. J Cell Biol. 2010;191:479-92 pubmed publisher
    ..Finally, we found that the human CrebA orthologues, Creb3L1 and Creb3L2, have the ability to up-regulate the secretory pathway in nonsecretory cell types. ..
  25. Panagopoulos I, Monsef N, Collin A, Mertens F. Characterization of an alternative transcript of the human CREB3L2 gene. Oncol Rep. 2010;24:1133-9 pubmed
    ..Whether this transcript has a cellular function or is targeted for degradation by nonsense-mediated RNA decay system of RNA surveillance is currently unknown. ..
  26. Lui W, Zeng L, Rehrmann V, Deshpande S, Tretiakova M, Kaplan E, et al. CREB3L2-PPARgamma fusion mutation identifies a thyroid signaling pathway regulated by intramembrane proteolysis. Cancer Res. 2008;68:7156-64 pubmed publisher
    ..Our findings identify a novel CREB3L2-PPARgamma gene fusion mutation in thyroid carcinoma and reveal a thyroid signaling pathway that is regulated by intramembrane proteolysis and disrupted in cancer. ..
  27. Guillou L, Benhattar J, Gengler C, Gallagher G, Ranchere Vince D, Collin F, et al. Translocation-positive low-grade fibromyxoid sarcoma: clinicopathologic and molecular analysis of a series expanding the morphologic spectrum and suggesting potential relationship to sclerosing epithelioid fibrosarcoma: a study from the French Sarcom. Am J Surg Pathol. 2007;31:1387-402 pubmed
    ..The presence of epithelioid cells and fusion transcripts in both LGFMS and a subset of sclerosing epithelioid fibrosarcoma suggest that these neoplasms might be related. ..
  28. Yumimoto K, Matsumoto M, Onoyama I, Imaizumi K, Nakayama K. F-box and WD repeat domain-containing-7 (Fbxw7) protein targets endoplasmic reticulum-anchored osteogenic and chondrogenic transcriptional factors for degradation. J Biol Chem. 2013;288:28488-502 pubmed publisher
    ..two similar transcription factors, old astrocyte specifically induced substance (OASIS) and BBF2 human homolog on chromosome 7 (BBF2H7), as candidate substrates...
  29. Ishikawa T, Toyama T, Nakamura Y, Tamada K, Shimizu H, Ninagawa S, et al. UPR transducer BBF2H7 allows export of type II collagen in a cargo- and developmental stage-specific manner. J Cell Biol. 2017;216:1761-1774 pubmed publisher
    ..In this study, we show that this vacuolization step requires both ATF6 and BBF2H7 as UPR transducers and that BBF2H7 regulates a complete set of genes (Sec23/24/13/31, Tango1, ..