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Aliases for CREB3L2 Gene

Aliases for CREB3L2 Gene

  • CAMP Responsive Element Binding Protein 3 Like 2 2 3 5
  • CAMP-Responsive Element-Binding Protein 3-Like Protein 2 3 4
  • BBF2 Human Homolog On Chromosome 7 3 4
  • BBF2H7 3 4
  • Cyclic AMP-Responsive Element-Binding Protein 3-Like Protein 2 3
  • Basic Transcription Factor 2 3
  • B-ZIB Transcription Factor 3
  • FUS/BBF2H7 Protein 3
  • TCAG_1951439 3

External Ids for CREB3L2 Gene

Previous GeneCards Identifiers for CREB3L2 Gene

  • GC07M136981
  • GC07M136975
  • GC07M137021
  • GC07M137210
  • GC07M137559
  • GC07M131867

Summaries for CREB3L2 Gene

Entrez Gene Summary for CREB3L2 Gene

  • This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for CREB3L2 Gene

CREB3L2 (CAMP Responsive Element Binding Protein 3 Like 2) is a Protein Coding gene. Diseases associated with CREB3L2 include Myxofibrosarcoma and Sarcoma. Among its related pathways are Aldosterone synthesis and secretion and Circadian entrainment. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is CREB3L1.

UniProtKB/Swiss-Prot for CREB3L2 Gene

  • Transcription factor involved in unfolded protein response (UPR). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target genes. Plays a critical role in chondrogenesis by activating the transcription of SEC23A, which promotes the transport and secretion of cartilage matrix proteins, and possibly that of ER biogenesis-related genes (By similarity). In a neuroblastoma cell line, protects cells from ER stress-induced death (PubMed:17178827). In vitro activates transcription of target genes via direct binding to the CRE site (PubMed:17178827).

Additional gene information for CREB3L2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CREB3L2 Gene

Genomics for CREB3L2 Gene

GeneHancer (GH) Regulatory Elements for CREB3L2 Gene

Promoters and enhancers for CREB3L2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I137995 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 563.3 +2.8 2761 7.9 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 CREB3L2 TRIM24 AKR1D1 GC07M137981
GH07I137961 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.9 +37.1 37054 7.6 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B DMAP1 IRF4 SLC30A9 ZNF766 CREB3L2 AKR1D1 TRIM24 LOC100130880 GC07M137981
GH07I137974 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +17.3 17294 21 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 GC07M137981 TRIM24 CREB3L2 LOC100130880
GH07I138028 Enhancer 1.2 Ensembl ENCODE dbSUPER 18.2 -28.1 -28135 3 HDAC1 ZNF335 ZNF366 POLR3A RCOR1 FOS ATF7 IKZF2 CREM ZNF362 AKR1D1 CREB3L2 LOC100128052 LOC100420648
GH07I137931 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 11.4 +67.0 67048 6.2 ATF1 FOXA2 IRF4 ZNF766 FOS JUNB NCOA1 REST ZNF592 SMARCA4 CREB3L2 AKR1D1 LOC100130880 GC07M137694
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CREB3L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CREB3L2 gene promoter:

Genomic Locations for CREB3L2 Gene

Genomic Locations for CREB3L2 Gene
chr7:137,874,979-138,002,101
(GRCh38/hg38)
Size:
127,123 bases
Orientation:
Minus strand
chr7:137,559,725-137,686,846
(GRCh37/hg19)

Genomic View for CREB3L2 Gene

Genes around CREB3L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CREB3L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CREB3L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CREB3L2 Gene

Proteins for CREB3L2 Gene

  • Protein details for CREB3L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q70SY1-CR3L2_HUMAN
    Recommended name:
    Cyclic AMP-responsive element-binding protein 3-like protein 2
    Protein Accession:
    Q70SY1
    Secondary Accessions:
    • Q6P454
    • Q6ZMR6

    Protein attributes for CREB3L2 Gene

    Size:
    520 amino acids
    Molecular mass:
    57415 Da
    Quaternary structure:
    • Binds DNA as a dimer.

    Alternative splice isoforms for CREB3L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CREB3L2 Gene

Post-translational modifications for CREB3L2 Gene

  • N-glycosylated.
  • Ubiquitinated by HRD1/SYVN1; undergoes Lys-48-linked ubiquitination, followed by rapid proteasomal degradation under normal conditions. Upon ER stress, SYVN1 E3 ubiquitin-protein ligase dissociates from its substrate, ubiquitination does not occur and CREB3L2 is stabilized.
  • Upon ER stress, translocated to the Golgi apparatus, where it is processed by regulated intramembrane proteolysis (RIP) to release the cytosol-facing N-terminal transcription factor domain. The cleavage is performed sequentially by site-1 and site-2 proteases (S1P/MBTPS1 and S2P/MBTPS2).
  • Ubiquitination at posLast=364364
  • Glycosylation at Asn480, Asn504, and posLast=517517

No data available for DME Specific Peptides for CREB3L2 Gene

Domains & Families for CREB3L2 Gene

Gene Families for CREB3L2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transcription factors

Protein Domains for CREB3L2 Gene

Suggested Antigen Peptide Sequences for CREB3L2 Gene

Graphical View of Domain Structure for InterPro Entry

Q70SY1

UniProtKB/Swiss-Prot:

CR3L2_HUMAN :
  • Belongs to the bZIP family. ATF subfamily.
Family:
  • Belongs to the bZIP family. ATF subfamily.
genes like me logo Genes that share domains with CREB3L2: view

Function for CREB3L2 Gene

Molecular function for CREB3L2 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor involved in unfolded protein response (UPR). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target genes. Plays a critical role in chondrogenesis by activating the transcription of SEC23A, which promotes the transport and secretion of cartilage matrix proteins, and possibly that of ER biogenesis-related genes (By similarity). In a neuroblastoma cell line, protects cells from ER stress-induced death (PubMed:17178827). In vitro activates transcription of target genes via direct binding to the CRE site (PubMed:17178827).
UniProtKB/Swiss-Prot Induction:
Up-regulated by ER stress at the transcript and protein levels, the increase at the protein level is much higher than at the transcript level. This induction is accompanied by increased proteolytic cleavage that releases the N-terminal transcription factor domain.

Phenotypes From GWAS Catalog for CREB3L2 Gene

Gene Ontology (GO) - Molecular Function for CREB3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA --
GO:0035497 cAMP response element binding IMP,IEA 17178827
GO:0044212 transcription regulatory region DNA binding IMP 17178827
genes like me logo Genes that share ontologies with CREB3L2: view
genes like me logo Genes that share phenotypes with CREB3L2: view

Animal Models for CREB3L2 Gene

MGI Knock Outs for CREB3L2:

Animal Model Products

miRNA for CREB3L2 Gene

miRTarBase miRNAs that target CREB3L2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CREB3L2 Gene

Localization for CREB3L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CREB3L2 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Note=ER membrane resident protein. Upon ER stress, translocated to the Golgi apparatus where it is cleaved. The cytosolic N-terminal fragment (processed cyclic AMP-responsive element-binding protein 3-like protein 1) is transported into the nucleus. {ECO:0000250 UniProtKB:Q8BH52}.
Processed cyclic AMP-responsive element-binding protein 3-like protein 2: Nucleus. Note=Upon ER stress, translocated into the nucleus. {ECO:0000250 UniProtKB:Q8BH52}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CREB3L2 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CREB3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 17178827
GO:0005654 nucleoplasm IDA --
GO:0005783 endoplasmic reticulum IDA 17178827
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CREB3L2: view

Pathways & Interactions for CREB3L2 Gene

genes like me logo Genes that share pathways with CREB3L2: view

SIGNOR curated interactions for CREB3L2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CREB3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002062 chondrocyte differentiation ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with CREB3L2: view

Drugs & Compounds for CREB3L2 Gene

(1) Drugs for CREB3L2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
genes like me logo Genes that share compounds with CREB3L2: view

Transcripts for CREB3L2 Gene

Unigene Clusters for CREB3L2 Gene

CAMP responsive element binding protein 3-like 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CREB3L2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b
SP1: - - - - -
SP2: - -
SP3: - - - -
SP4:
SP5: - - -
SP6: - - - -

Relevant External Links for CREB3L2 Gene

GeneLoc Exon Structure for
CREB3L2
ECgene alternative splicing isoforms for
CREB3L2

Expression for CREB3L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CREB3L2 Gene

Protein differential expression in normal tissues from HIPED for CREB3L2 Gene

This gene is overexpressed in Fetal Liver (51.4) and Placenta (17.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CREB3L2 Gene



Protein tissue co-expression partners for CREB3L2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CREB3L2 Gene:

CREB3L2

SOURCE GeneReport for Unigene cluster for CREB3L2 Gene:

Hs.490273

mRNA Expression by UniProt/SwissProt for CREB3L2 Gene:

Q70SY1-CR3L2_HUMAN
Tissue specificity: Widely expressed with highest levels in placenta, lung, spleen and intestine, and lowest levels in heart, brain, skeletal muscle, thymus, colon and leukocytes. In fetal tissues, the weakest expression is detected in brain and heart.

Evidence on tissue expression from TISSUES for CREB3L2 Gene

  • Skin(4.5)
  • Lung(4.4)
  • Nervous system(4.4)
  • Muscle(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with CREB3L2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CREB3L2 Gene

Orthologs for CREB3L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CREB3L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CREB3L2 33 34
  • 99.04 (n)
dog
(Canis familiaris)
Mammalia CREB3L2 34
  • 95 (a)
OneToOne
LOC491369 33
  • 90.19 (n)
cow
(Bos Taurus)
Mammalia CREB3L2 33 34
  • 89.81 (n)
rat
(Rattus norvegicus)
Mammalia Creb3l2 33
  • 87.24 (n)
mouse
(Mus musculus)
Mammalia Creb3l2 33 16 34
  • 87.05 (n)
oppossum
(Monodelphis domestica)
Mammalia CREB3L2 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CREB3L2 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves CREB3L2 33 34
  • 70.74 (n)
lizard
(Anolis carolinensis)
Reptilia CREB3L2 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia creb3l2 33
  • 61.92 (n)
zebrafish
(Danio rerio)
Actinopterygii creb3l2 33 34
  • 60.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta CrebA 34
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea crh-2 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6977 34
  • 26 (a)
OneToMany
Species where no ortholog for CREB3L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CREB3L2 Gene

ENSEMBL:
Gene Tree for CREB3L2 (if available)
TreeFam:
Gene Tree for CREB3L2 (if available)

Paralogs for CREB3L2 Gene

Paralogs for CREB3L2 Gene

(2) SIMAP similar genes for CREB3L2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CREB3L2: view

Variants for CREB3L2 Gene

Sequence variations from dbSNP and Humsavar for CREB3L2 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000020412 -- 137,886,989(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000103674 -- 137,884,680(-) C/G genic_downstream_transcript_variant, intron_variant
rs1000125685 -- 137,929,970(-) T/C intron_variant
rs1000129177 -- 137,994,761(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000229217 -- 138,001,395(-) G/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CREB3L2 Gene

Variant ID Type Subtype PubMed ID
dgv11621n54 CNV loss 21841781
esv2595133 CNV deletion 19546169
esv2675854 CNV deletion 23128226
esv2735211 CNV deletion 23290073
esv28034 CNV loss 19812545
esv33947 CNV gain 17666407
esv3542496 CNV deletion 23714750
esv3542497 CNV deletion 23714750
esv3572163 CNV loss 25503493
esv3615180 CNV loss 21293372
nsv1022793 CNV gain 25217958
nsv1124271 CNV deletion 24896259
nsv1132088 CNV deletion 24896259
nsv518070 CNV gain 19592680
nsv5963 CNV insertion 18451855
nsv5964 CNV deletion 18451855
nsv608470 CNV loss 21841781
nsv831150 CNV gain+loss 17160897

Variation tolerance for CREB3L2 Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CREB3L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CREB3L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CREB3L2 Gene

Disorders for CREB3L2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for CREB3L2 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myxofibrosarcoma
  • fibromyxosarcoma
sarcoma
  • connective and soft tissue neoplasm
heart fibrosarcoma
  • cardiac fibrosarcoma
mixed liposarcoma
  • mixed-type liposarcoma
esophagus sarcoma
  • esophageal sarcoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CR3L2_HUMAN
  • Note=A chromosomal aberration involving CREB3L2 is found in low grade fibromyxoid sarcoma (LGFMS). Translocation t(7;16)(q33;p11) with FUS.

Additional Disease Information for CREB3L2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CREB3L2: view

No data available for Genatlas for CREB3L2 Gene

Publications for CREB3L2 Gene

  1. BBF2H7, a novel transmembrane bZIP transcription factor, is a new type of endoplasmic reticulum stress transducer. (PMID: 17178827) Kondo S … Imaizumi K (Molecular and cellular biology 2007) 3 4 22 58
  2. Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma. (PMID: 12915480) Storlazzi CT … Panagopoulos I (Human molecular genetics 2003) 3 4 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Characterization of the native CREB3L2 transcription factor and the FUS/CREB3L2 chimera. (PMID: 17117415) Panagopoulos I … Mertens F (Genes, chromosomes & cancer 2007) 3 22 58
  5. The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma. (PMID: 15139001) Panagopoulos I … Mertens F (Genes, chromosomes & cancer 2004) 4 22 58

Products for CREB3L2 Gene

Sources for CREB3L2 Gene

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