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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)

Identity

Other namesBBF2H7 (BBF2 human homolog on chromosome 7)
DKFZp586F2423
DKFZp686O19165
TCAG_1951439
HGNC (Hugo) CREB3L2
LocusID (NCBI) 64764
Atlas_Id 153
Location 7q33  [Link to chromosome band 7q33]
Location_base_pair Starts at 137597557 and ends at 137686847 bp from pter ( according to hg19-Feb_2009)  [Mapping CREB3L2.png]
Fusion genes
(updated 2016)
CREB3L2 (7q33) / CDKN1A (6p21.2)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)

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

Protein

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

Note
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.
  

Bibliography

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
 
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
 
Expression of DOL54 is not restricted to myxoid liposarcomas with the FUS-DDIT3 chimera but is found in various sarcomas.
Panagopoulos I, Mertens F, Isaksson M, Mandahl N
Oncology reports. 2004 ; 12 (1) : 107-110.
PMID 15201968
 
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
 

Citation

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 : http://AtlasGeneticsOncology.org/Genes/CREB3L2ID153ch7q33.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Soft Tissues: Angiomatoid fibrous histiocytoma
Soft Tissues: Low grade fibromyxoid sarcoma
Soft Tissues: Liposarcoma: Myxoid liposarcoma
Soft tissue tumors: an overview

External links

Nomenclature
HGNC (Hugo)CREB3L2   23720
Cards
AtlasCREB3L2ID153ch7q33
Entrez_Gene (NCBI)CREB3L2  64764  cAMP responsive element binding protein 3-like 2
AliasesBBF2H7
GeneCards (Weizmann)CREB3L2
Ensembl hg19 (Hinxton)ENSG00000182158 [Gene_View]  chr7:137597557-137686847 [Contig_View]  CREB3L2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000182158 [Gene_View]  chr7:137597557-137686847 [Contig_View]  CREB3L2 [Vega]
ICGC DataPortalENSG00000182158
TCGA cBioPortalCREB3L2
AceView (NCBI)CREB3L2
Genatlas (Paris)CREB3L2
WikiGenes64764
SOURCE (Princeton)CREB3L2
Genomic and cartography
GoldenPath hg19 (UCSC)CREB3L2  -     chr7:137597557-137686847 -  7q34   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CREB3L2  -     7q34   [Description]    (hg38-Dec_2013)
EnsemblCREB3L2 - 7q34 [CytoView hg19]  CREB3L2 - 7q34 [CytoView hg38]
Mapping of homologs : NCBICREB3L2 [Mapview hg19]  CREB3L2 [Mapview hg38]
OMIM608834   
Gene and transcription
Genbank (Entrez)AJ549092 AJ549387 AK131517 AK293048 AL080209
RefSeq transcript (Entrez)NM_001253775 NM_001318246 NM_194071
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)CREB3L2
Cluster EST : UnigeneHs.490273 [ NCBI ]
CGAP (NCI)Hs.490273
Alternative Splicing GalleryENSG00000182158
Gene ExpressionCREB3L2 [ NCBI-GEO ]   CREB3L2 [ EBI - ARRAY_EXPRESS ]   CREB3L2 [ SEEK ]   CREB3L2 [ MEM ]
Gene Expression Viewer (FireBrowse)CREB3L2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64764
GTEX Portal (Tissue expression)CREB3L2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ70SY1 (Uniprot)
NextProtQ70SY1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ70SY1
Splice isoforms : SwissVarQ70SY1 (Swissvar)
PhosPhoSitePlusQ70SY1
Domaine pattern : Prosite (Expaxy)BZIP (PS50217)    BZIP_BASIC (PS00036)   
Domains : Interpro (EBI)BBF2H7    bZIP   
Domain families : Pfam (Sanger)bZIP_1 (PF00170)   
Domain families : Pfam (NCBI)pfam00170   
Domain families : Smart (EMBL)BRLZ (SM00338)  
DMDM Disease mutations64764
Blocks (Seattle)CREB3L2
SuperfamilyQ70SY1
Human Protein AtlasENSG00000182158
Peptide AtlasQ70SY1
HPRD16391
IPIIPI00375520   IPI00847963   IPI00440514   IPI00929708   IPI00915414   IPI00926976   IPI00927205   
Protein Interaction databases
DIP (DOE-UCLA)Q70SY1
IntAct (EBI)Q70SY1
FunCoupENSG00000182158
BioGRIDCREB3L2
STRING (EMBL)CREB3L2
ZODIACCREB3L2
Ontologies - Pathways
QuickGOQ70SY1
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  chondrocyte differentiation  nucleus  nucleoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  transcription from RNA polymerase II promoter  ER to Golgi vesicle-mediated transport  integral component of membrane  endoplasmic reticulum unfolded protein response  response to endoplasmic reticulum stress  cAMP response element binding  transcription regulatory region DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  cartilage development  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  chondrocyte differentiation  nucleus  nucleoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  transcription from RNA polymerase II promoter  ER to Golgi vesicle-mediated transport  integral component of membrane  endoplasmic reticulum unfolded protein response  response to endoplasmic reticulum stress  cAMP response element binding  transcription regulatory region DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  cartilage development  
Pathways : KEGGPI3K-Akt signaling pathway    Adrenergic signaling in cardiomyocytes    TNF signaling pathway    Cholinergic synapse    Dopaminergic synapse    Insulin secretion    Estrogen signaling pathway    Melanogenesis    Thyroid hormone synthesis    Vasopressin-regulated water reabsorption    Huntington's disease    Cocaine addiction    Amphetamine addiction    Alcoholism    Hepatitis B    Viral carcinogenesis    Prostate cancer   
NDEx Network
Atlas of Cancer Signalling NetworkCREB3L2
Wikipedia pathwaysCREB3L2
Orthology - Evolution
OrthoDB64764
GeneTree (enSembl)ENSG00000182158
Phylogenetic Trees/Animal Genes : TreeFamCREB3L2
Homologs : HomoloGeneCREB3L2
Homology/Alignments : Family Browser (UCSC)CREB3L2
Gene fusions - Rearrangements
Fusion : MitelmanCREB3L2/PPARG [7q33/3p25.2]  
Fusion : MitelmanEWSR1/CREB3L2 [22q12.2/7q33]  [t(7;22)(q34;q12)]  
Fusion : MitelmanFUS/CREB3L2 [16p11.2/7q33]  [t(7;16)(q33;p11)]  [t(7;16)(q34;p11)]  
Fusion : COSMICFUS [16p11.2]  -  CREB3L2 [7q33]  [fusion_325]  [fusion_330]  [fusion_331]  [fusion_332]  [fusion_333]  [fusion_334]  [fusion_335]  
[fusion_336]  [fusion_337]  [fusion_338]  [fusion_339]  [fusion_340]  [fusion_341]  [fusion_389]  [fusion_390]  [fusion_391]  [fusion_392]  
[fusion_611]  [fusion_612]  [fusion_613]  [fusion_614]  [fusion_615]  [fusion_616]  [fusion_617]  [fusion_618]  [fusion_619]  [fusion_620]  
[fusion_621]  [fusion_622]  [fusion_623]  [fusion_844]  [fusion_845]  [fusion_846]  [fusion_850]  [fusion_851]  [fusion_852]  [fusion_854]  
[fusion_855]  [fusion_856]  [fusion_857]  [fusion_858]  [fusion_859]  [fusion_862]  [fusion_863]  [fusion_864]  [fusion_916]  [fusion_917]  
[fusion_918]  [fusion_919]  [fusion_920]  [fusion_921]  [fusion_922]  [fusion_923]  [fusion_924]  [fusion_925]  [fusion_926]  [fusion_927]  
[fusion_928]  [fusion_930]  [fusion_932]  [fusion_934]  [fusion_936]  [fusion_937]  [fusion_938]  [fusion_941]  [fusion_944]  [fusion_945]  
[fusion_946]  [fusion_947]  [fusion_948]  [fusion_949]  [fusion_950]  [fusion_951]  [fusion_952]  [fusion_953]  
Fusion : TICdbCREB3L2 [7q33]  -  PPARG [3p25.2]
Fusion : TICdbFUS [16p11.2]  -  CREB3L2 [7q33]
Polymorphisms : SNP, variants
NCBI Variation ViewerCREB3L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CREB3L2
dbVarCREB3L2
ClinVarCREB3L2
1000_GenomesCREB3L2 
Exome Variant ServerCREB3L2
ExAC (Exome Aggregation Consortium)CREB3L2 (select the gene name)
Genetic variants : HAPMAP64764
Genomic Variants (DGV)CREB3L2 [DGVbeta]
Mutations
ICGC Data PortalCREB3L2 
TCGA Data PortalCREB3L2 
Broad Tumor PortalCREB3L2
OASIS PortalCREB3L2 [ Somatic mutations - Copy number]
Cancer Gene: CensusCREB3L2 
Somatic Mutations in Cancer : COSMICCREB3L2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CREB3L2
DgiDB (Drug Gene Interaction Database)CREB3L2
DoCM (Curated mutations)CREB3L2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CREB3L2 (select a term)
intoGenCREB3L2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:137597557-137686847  ENSG00000182158
CONAN: Copy Number AnalysisCREB3L2 
Mutations and Diseases : HGMDCREB3L2
OMIM608834   
MedgenCREB3L2
Genetic Testing Registry CREB3L2
NextProtQ70SY1 [Medical]
TSGene64764
GENETestsCREB3L2
Huge Navigator CREB3L2 [HugePedia]
snp3D : Map Gene to Disease64764
BioCentury BCIQCREB3L2
ClinGenCREB3L2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64764
Chemical/Pharm GKB GenePA134914841
Clinical trialCREB3L2
Miscellaneous
canSAR (ICR)CREB3L2 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCREB3L2
EVEXCREB3L2
GoPubMedCREB3L2
iHOPCREB3L2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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