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CREB3L2 (cAMP responsive element binding protein 3-like 2)

Written2004-10Clelia Tiziana Storlazzi, Fredrik Mertens, Ioannis Panagopoulos
Department of Clinical Genetics, Lund University Hospital, Lund, Sweden (FM, IP)

(Note : for Links provided by Atlas : click)


Other aliasBBF2H7 (BBF2 human homolog on chromosome 7)
LocusID (NCBI) 64764
Atlas_Id 153
Location 7q33  [Link to chromosome band 7q33]
Location_base_pair Starts at and ends at bp from pter
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CREB3L2 (7q33) / CDKN1A (6p21.2)CREB3L2 (7q33) / CPA2 (7q32.2)CREB3L2 (7q33) / CREB3L2 (7q33)
CREB3L2 (7q33) / FUS (16p11.2)CREB3L2 (7q33) / IKZF1 (7p12.2)CREB3L2 (7q33) / LMO2 (11p13)
CREB3L2 (7q33) / PCM1 (8p22)CREB3L2 (7q33) / PPARG (3p25.2)CREBBP (16p13.3) / CREB3L2 (7q33)
EWSR1 (22q12.2) / CREB3L2 (7q33)FUS (16p11.2) / CREB3L2 (7q33)
Note (position on chromosome 7 sequence according to UCSC database: 137021995-137144058)


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


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/Mutated 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.
Abnormal 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.


Hyalinizing spindle cell tumor with giant rosettes--a soft tissue tumor with mesenchymal and neuroendocrine features. An immunohistochemical, ultrastructural, and cytogenetic analysis.
Bejarano PA, Padhya TA, Smith R, Blough R, Devitt JJ, Gluckman JL
Archives of pathology & laboratory medicine. 2000 ; 124 (8) : 1179-1184.
PMID 10923080
The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma.
Panagopoulos I, Storlazzi CT, Fletcher CD, Fletcher JA, Nascimento A, Domanski HA, Wejde J, Brosjö O, Rydholm A, Isaksson M, Mandahl N, Mertens F
Genes, chromosomes & cancer. 2004 ; 40 (3) : 218-228.
PMID 15139001
Low-grade fibromyxoid sarcoma and hyalinizing spindle cell tumor with giant rosettes share a common t(7;16)(q34;p11) translocation.
Reid R, de Silva MV, Paterson L, Ryan E, Fisher C
The American journal of surgical pathology. 2003 ; 27 (9) : 1229-1236.
PMID 12960807
Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma.
Storlazzi CT, Mertens F, Nascimento A, Isaksson M, Wejde J, Brosjo O, Mandahl N, Panagopoulos I
Human molecular genetics. 2003 ; 12 (18) : 2349-2358.
PMID 12915480


This paper should be referenced as such :
Storlazzi, CT ; Mertens, F ; Panagopoulos, I
CREB3L2 (cAMP responsive element binding protein 3-like 2)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(4):308-309.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 8 ]
  Soft Tissues: Angiomatoid fibrous histiocytoma
Soft Tissues: Low grade fibromyxoid sarcoma
Soft Tissues: Liposarcoma: Myxoid liposarcoma
Soft tissue tumors: an overview
t(3;7)(p25;q34) CREB3L2/PPARG
t(3;7)(p25;q34) CREB3L2/PPARG
t(7;7)(q32;q33) CREB3L2/CPA2
t(7;22)(q34;q12) EWSR1/CREB3L2

External links

Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)64764
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
canSAR (ICR) (select the gene name)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 18 17:32:34 CEST 2018

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