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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
  • 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 TNF signaling pathway and cAMP signaling pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is CREB3L3.

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).

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

Genomics for CREB3L2 Gene

Regulatory Elements for CREB3L2 Gene

Enhancers for CREB3L2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CREB3L2 on UCSC Golden Path with GeneCards custom track

Promoters for CREB3L2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CREB3L2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CREB3L2 Gene

Chromosome:
7
Start:
137,874,979 bp from pter
End:
138,002,101 bp from pter
Size:
127,123 bases
Orientation:
Minus strand

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

Proteomics data for CREB3L2 Gene at MOPED

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 Lys 364
  • Glycosylation at Asn 480, Asn 504, and Asn 517
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CREB3L2 Gene

Domains & Families for CREB3L2 Gene

Gene Families for CREB3L2 Gene

Protein Domains for CREB3L2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CREB3L2 Gene

Graphical View of Domain Structure for InterPro Entry

Q70SY1

UniProtKB/Swiss-Prot:

CR3L2_HUMAN :
  • Contains 1 bZIP (basic-leucine zipper) domain.
  • Belongs to the bZIP family. ATF subfamily.
Domain:
  • Contains 1 bZIP (basic-leucine zipper) domain.
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 transcipt 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.

Gene Ontology (GO) - Molecular Function for CREB3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043565 sequence-specific DNA binding IEA --
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

CRISPR Products

miRNA for CREB3L2 Gene

miRTarBase miRNAs that target CREB3L2

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
Jensen Localization Image for CREB3L2 Gene COMPARTMENTS Subcellular localization image for CREB3L2 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
cytoskeleton 2

No data available for Gene Ontology (GO) - Cellular Components for CREB3L2 Gene

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:0006366 transcription from RNA polymerase II promoter IEA --
GO:0045893 positive regulation of transcription, DNA-templated IDA 17178827
GO:0051216 cartilage development ISS --
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:

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 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, MOPED, and MaxQB for CREB3L2 Gene



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.
genes like me logo Genes that share expression patterns with CREB3L2: view

Protein tissue co-expression partners for CREB3L2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia CREB3L2 35
  • 89.81 (n)
  • 93.08 (a)
CREB3L2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC491369 35
  • 90.19 (n)
  • 94.62 (a)
CREB3L2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Creb3l2 35
  • 87.05 (n)
  • 91.15 (a)
Creb3l2 16
Creb3l2 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CREB3L2 35
  • 99.04 (n)
  • 99.04 (a)
CREB3L2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Creb3l2 35
  • 87.24 (n)
  • 90.96 (a)
oppossum
(Monodelphis domestica)
Mammalia CREB3L2 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CREB3L2 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves CREB3L2 35
  • 70.74 (n)
  • 67.96 (a)
CREB3L2 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CREB3L2 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia creb3l2 35
  • 61.92 (n)
  • 54.15 (a)
zebrafish
(Danio rerio)
Actinopterygii creb3l2 35
  • 60.44 (n)
  • 56.43 (a)
creb3l2 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CrebA 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea crh-2 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6977 36
  • 26 (a)
OneToMany
Species with no ortholog for CREB3L2:
  • 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 Sequence Context AA Info Type
rs273957 - 137,915,944(+) TGTAA(A/C/G/T)TGGCT reference, missense
rs765229 -- 137,890,739(+) TGAGA(C/T)GATGT intron-variant
rs765230 -- 137,890,715(+) GACCT(C/T)ATAAC intron-variant
rs765857 -- 137,941,153(+) CTACA(A/T)CAGCT intron-variant
rs834927 -- 137,922,453(+) atata(C/T)acaca intron-variant

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

Variant ID Type Subtype PubMed ID
esv33947 CNV Gain 17666407
nsv831150 CNV Gain+Loss 17160897
nsv518070 CNV Gain 19592680
nsv5963 CNV Insertion 18451855
esv2675854 CNV Deletion 23128226
esv28034 CNV Loss 19812545
nsv5964 CNV Loss 18451855
esv2595133 CNV Deletion 19546169
esv2735211 CNV Deletion 23290073

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CREB3L2 Gene

Disorders for CREB3L2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
myxofibrosarcoma
  • fibromyxosarcoma
sarcoma
  • connective and soft tissue neoplasm
mixed liposarcoma
  • mixed-type liposarcoma
sclerosing 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.

Relevant External Links for CREB3L2

Genetic Association Database (GAD)
CREB3L2
Human Genome Epidemiology (HuGE) Navigator
CREB3L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CREB3L2
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. (Mol. Cell. Biol. 2007) 3 4 23 67
  2. Characterization of the native CREB3L2 transcription factor and the FUS/CREB3L2 chimera. (PMID: 17117415) Panagopoulos I. … Mertens F. (Genes Chromosomes Cancer 2007) 3 23
  3. Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma. (PMID: 12915480) Storlazzi C.T. … Panagopoulos I. (Hum. Mol. Genet. 2003) 3 23
  4. FBXW7 modulates cellular stress response and metastatic potential through a88HSF1 post-translational modification. (PMID: 25720964) Kourtis N. … Aifantis I. (Nat. Cell Biol. 2015) 3
  5. Promotion of Cancer Cell Proliferation by Cleaved and Secreted Luminal Domains of ER Stress Transducer BBF2H7. (PMID: 25955804) Iwamoto H. … Imaizumi K. (PLoS ONE 2015) 3

Products for CREB3L2 Gene

Sources for CREB3L2 Gene

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