CREB3L2 (cAMP responsive element binding protein 3-like 2)
2004-10-01 Clelia Tiziana Storlazzi  , Fredrik Mertens  , Ioannis Panagopoulos   AffiliationDepartment of Clinical Genetics, Lund University Hospital, Lund, Sweden (FM, IP)
DNA/RNA
Description
122,064 Kb, 12 exons. Exon 1, containing the initiation ATG, is the largest (454 bp) and exon 7 the smallest (59 bp). Exon 12 includes the termination TAA codon. Introns 1 and 9 are the largest (73132 bp) and smallest (281 bp), respectively.
Transcription
The strongest expression was seen in placenta, lung, spleen and intestine, and the weakest in heart, brain, skeletal muscle, thymus, colon and leukocytes. In fetal tissues, the weakest expression was detected in brain and heart. A splice variant, lacking exon 2, was found in placenta, spleen and fetal liver
Proteins
Description
519 amino acids, 57 kDa. The amino acid sequence spanning residues 291-356 of the predicted human CREB3L2 protein contains a consensus B-ZIP domain highly similar to that in the CREB3L1, CREB3L3, CREB3L4, CREB3 and Drosophila Bbf-2 transcription factors with 80, 60, 59, 56 and 71% identity, respectively. It also contains the amino acid sequence RRKKKEY which is exactly conserved among CREB, CREM, ATF1, ATF6 and CREBL1. The leucine zipper motif of CREB3L2 is similar to that in CREB3L3 and CREB3L4 (pattern L-X6-C-X6-L-X6-L-X6-L-X6-L). It contains six repeats and consists of five leucines and one cysteine at the second heptad position (amino acid 328) of the leucine zipper. Downstream of the B-ZIP domain, CREB3L2 also contains a hydrophobic region, which was predicted to be an a-helical transmembrane domain (position 376-397; GTCLMVVVLCFAVAFGSFFQGY) by the prediction program PSORT II. This structural feature is also seen in the other members of the family, i.e. CREB3L1, CREB3L3, CREB3 and CREB3L4.
Function
B-ZIP transcription factor
Homology
CREB3L2 is a member of the old astrocyte specifically induced substance (OASIS) DNA binding and basic leucine zipper dimerization (B-ZIP) family of transcription factors, together with CREB3L1 (also known as OASIS), CREB3L3, CREB3 and CREB3L4.
Implicated in
Disease
Low-grade fibromyxoid sarcoma (LGFMS), variant of fibrosarcoma
Prognosis
Usually cured by surgical excision, but may metastasize in up to 10% of the cases
Cytogenetics
t(7;16)(q33-34;p11) or more complex rearrangements involving 7q and 16p. Some cases show the presence of supernumerary ring chromosomes without any detectable breakpoint in 7q or 16p.
Hybrid gene
The most common transcripts are due to fusion of exon 6 or 7 with exon 5 of FUS and CREB3L2, respectively. The breakpoints in the fusion transcripts so far reported have, however, varied from exon 5-7 of FUS and from intron 4 to exon 6 of CREB3L2.
Fusion protein
FUS/CREB3L2. The chimera is coding for a protein containing the N-terminus of FUS, and the B-ZIP domain and the C-terminus of CREB3L2. In the FUS/CREB3L2 chimera, the bZIP-encoding domain of CREB3L2 comes under the control of the FUS promoter, which, in turn, may cause deregulation of genes normally controlled by CREB3L2.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10923080 | 2000 | Hyalinizing spindle cell tumor with giant rosettes--a soft tissue tumor with mesenchymal and neuroendocrine features. An immunohistochemical, ultrastructural, and cytogenetic analysis. | Bejarano PA et al |
| 15139001 | 2004 | The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma. | Panagopoulos I et al |
| 12960807 | 2003 | Low-grade fibromyxoid sarcoma and hyalinizing spindle cell tumor with giant rosettes share a common t(7;16)(q34;p11) translocation. | Reid R et al |
| 12915480 | 2003 | Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma. | Storlazzi CT et al |
Other Information
Locus ID:
NCBI: 64764
MIM: 608834
HGNC: 23720
Ensembl: ENSG00000182158
Variants:
dbSNP: 64764
ClinVar: 64764
TCGA: ENSG00000182158
COSMIC: CREB3L2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33618248 | 2021 | MicroRNA-92b-3p promotes the progression of liver fibrosis by targeting CREB3L2 through the JAK/STAT signaling pathway. | 4 |
| 33803345 | 2021 | Comparative Analysis of CREB3 and CREB3L2 Protein Expression in HEK293 Cells. | 2 |
| 34611310 | 2021 | Single-cell analysis reveals androgen receptor regulates the ER-to-Golgi trafficking pathway with CREB3L2 to drive prostate cancer progression. | 7 |
| 33618248 | 2021 | MicroRNA-92b-3p promotes the progression of liver fibrosis by targeting CREB3L2 through the JAK/STAT signaling pathway. | 4 |
| 33803345 | 2021 | Comparative Analysis of CREB3 and CREB3L2 Protein Expression in HEK293 Cells. | 2 |
| 34611310 | 2021 | Single-cell analysis reveals androgen receptor regulates the ER-to-Golgi trafficking pathway with CREB3L2 to drive prostate cancer progression. | 7 |
| 31914686 | 2020 | Production of BBF2H7-derived small peptide fragments via endoplasmic reticulum stress-dependent regulated intramembrane proteolysis. | 0 |
| 31914686 | 2020 | Production of BBF2H7-derived small peptide fragments via endoplasmic reticulum stress-dependent regulated intramembrane proteolysis. | 0 |
| 29536501 | 2019 | Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII. | 4 |
| 29536501 | 2019 | Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII. | 4 |
| 28500182 | 2017 | UPR transducer BBF2H7 allows export of type II collagen in a cargo- and developmental stage-specific manner. | 29 |
| 28500182 | 2017 | UPR transducer BBF2H7 allows export of type II collagen in a cargo- and developmental stage-specific manner. | 29 |
| 25955804 | 2015 | Promotion of Cancer Cell Proliferation by Cleaved and Secreted Luminal Domains of ER Stress Transducer BBF2H7. | 4 |
| 25955804 | 2015 | Promotion of Cancer Cell Proliferation by Cleaved and Secreted Luminal Domains of ER Stress Transducer BBF2H7. | 4 |
| 23955342 | 2013 | F-box and WD repeat domain-containing-7 (Fbxw7) protein targets endoplasmic reticulum-anchored osteogenic and chondrogenic transcriptional factors for degradation. | 20 |
Citation
Clelia Tiziana Storlazzi ; Fredrik Mertens ; Ioannis Panagopoulos
CREB3L2 (cAMP responsive element binding protein 3-like 2)
Atlas Genet Cytogenet Oncol Haematol. 2004-10-01
Online version: http://atlasgeneticsoncology.org/gene/153
