Human Gene CREB3L2 (ENST00000330387.11_7) from GENCODE V47lift37
  Description: cAMP responsive element binding protein 3 like 2, transcript variant 1 (from RefSeq NM_194071.4)
Gencode Transcript: ENST00000330387.11_7
Gencode Gene: ENSG00000182158.16_12
Transcript (Including UTRs)
   Position: hg19 chr7:137,559,725-137,686,832 Size: 127,108 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr7:137,565,222-137,686,451 Size: 121,230 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:137,559,725-137,686,832)mRNA (may differ from genome)Protein (520 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CR3L2_HUMAN
DESCRIPTION: RecName: Full=Cyclic AMP-responsive element-binding protein 3-like protein 2; Short=cAMP-responsive element-binding protein 3-like protein 2; AltName: Full=BBF2 human homolog on chromosome 7; Contains: RecName: Full=Processed cyclic AMP-responsive element-binding protein 3-like protein 2;
FUNCTION: Transcriptional activator which is processed and activated during endoplasmic reticulum stress late phase. Binds to the cAMP response element (CRE) and activates transcription through CRE. Regulates the transcription of unfolded protein response target genes, preventing accumulation of unfolded proteins in damaged neurons. Also regulates the expression of SEC23A, accelerating protein trafficking from the ER to the Golgi thereby playing a key role in chondrocyte differentiation and formation of epiphyseal cartilage (By similarity).
SUBUNIT: Binds DNA as a dimer (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
SUBCELLULAR LOCATION: Processed cyclic AMP-responsive element- binding protein 3-like protein 2: Nucleus. Note=Under ER stress the cleaved N-terminal cytoplasmic domain translocates into the nucleus.
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.
PTM: Controlled by regulated intramembrane proteolysis (RIP). Following ER stress a fragment containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage seems to be performed sequentially by site-1 and site-2 proteases (PS1 and PS2).
DISEASE: Note=A chromosomal aberration involving CREB3L2 is found in low grade fibromyxoid sarcoma (LGFMS). Translocation t(7;16)(q33;p11) with FUS.
SIMILARITY: Belongs to the bZIP family. ATF subfamily.
SIMILARITY: Contains 1 bZIP (basic-leucine zipper) domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CREB3L2ID153ch7q33.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CREB3L2
Diseases sorted by gene-association score: myxofibrosarcoma* (247), sarcoma (13), heart fibrosarcoma (7), mixed liposarcoma (4), esophagus sarcoma (3), malignant fibroxanthoma (2), meninges sarcoma (2), atypical lipomatous tumor (2), sclerosing liposarcoma (2), mucocele of salivary gland (2), connective tissue cancer (2), chondrosarcoma, extraskeletal myxoid (2), synovium cancer (2), pancoast tumor (2), conventional fibrosarcoma (2), deep angioma (2), mesenchymal cell neoplasm (2), spindle cell liposarcoma (2), muscle cancer (2), chondroid lipoma (2), intramuscular hemangioma (2), pleomorphic lipoma (2), infiltrating lipoma (1), skin sarcoma (1), heart sarcoma (1), acute cor pulmonale (1), acute pulmonary heart disease (1), fibrosarcoma of bone (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.35 RPKM in Thyroid
Total median expression: 522.65 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -163.80381-0.430 Picture PostScript Text
3' UTR -1623.105497-0.295 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004827 - bZIP
IPR008917 - Euk_TF_DNA-bd

Pfam Domains:
PF00170 - bZIP transcription factor
PF03131 - bZIP Maf transcription factor
PF07716 - Basic region leucine zipper

SCOP Domains:
47454 - A DNA-binding domain in eukaryotic transcription factors
57959 - Leucine zipper domain

ModBase Predicted Comparative 3D Structure on Q70SY1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0035497 cAMP response element binding
GO:0044212 transcription regulatory region DNA binding

Biological Process:
GO:0002062 chondrocyte differentiation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0006986 response to unfolded protein
GO:0007275 multicellular organism development
GO:0030968 endoplasmic reticulum unfolded protein response
GO:0034976 response to endoplasmic reticulum stress
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051216 cartilage development

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF207084 - JP 2014500723-A/14587: Polycomb-Associated Non-Coding RNAs.
CR749563 - Homo sapiens mRNA; cDNA DKFZp686N2325 (from clone DKFZp686N2325).
BC131723 - Homo sapiens cAMP responsive element binding protein 3-like 2, mRNA (cDNA clone IMAGE:40123742), complete cds.
BC110813 - Homo sapiens cAMP responsive element binding protein 3-like 2, mRNA (cDNA clone MGC:131709 IMAGE:3923538), complete cds.
AJ549092 - Homo sapiens mRNA for basic transcription factor 2 homologue (BBF2H7 gene), from placental tissue.
AJ549387 - Homo sapiens mRNA for basic transcription factor 2 homologue (BBF2H7 gene), from lung tissue.
AK293048 - Homo sapiens cDNA FLJ77394 complete cds, highly similar to Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), mRNA.
EU446520 - Synthetic construct Homo sapiens clone IMAGE:100070334; IMAGE:100011729; FLH257217.01L cAMP responsive element binding protein 3-like 2 (CREB3L2) gene, encodes complete protein.
AB463459 - Synthetic construct DNA, clone: pF1KB7801, Homo sapiens CREB3L2 gene for cAMP responsive element binding protein 3-like 2, without stop codon, in Flexi system.
AK131517 - Homo sapiens cDNA FLJ16743 fis, clone CTONG2003348, moderately similar to Mus musculus mRNA for OASIS protein.
BC063666 - Homo sapiens cAMP responsive element binding protein 3-like 2, mRNA (cDNA clone IMAGE:4185677), complete cds.
KJ903091 - Synthetic construct Homo sapiens clone ccsbBroadEn_12485 CREB3L2 gene, encodes complete protein.
MA442661 - JP 2018138019-A/14587: Polycomb-Associated Non-Coding RNAs.
AL080209 - Homo sapiens mRNA; cDNA DKFZp586F2423 (from clone DKFZp586F2423).
BX648300 - Homo sapiens mRNA; cDNA DKFZp686K14125 (from clone DKFZp686K14125).
BX649143 - Homo sapiens mRNA; cDNA DKFZp686O19165 (from clone DKFZp686O19165).
AK025685 - Homo sapiens cDNA: FLJ22032 fis, clone HEP08743.
JD201970 - Sequence 182994 from Patent EP1572962.
JD145333 - Sequence 126357 from Patent EP1572962.
JD327906 - Sequence 308930 from Patent EP1572962.
JD549963 - Sequence 530987 from Patent EP1572962.
JD201976 - Sequence 183000 from Patent EP1572962.
JD567105 - Sequence 548129 from Patent EP1572962.
JD253643 - Sequence 234667 from Patent EP1572962.
JD226546 - Sequence 207570 from Patent EP1572962.
JD362223 - Sequence 343247 from Patent EP1572962.
LF361670 - JP 2014500723-A/169173: Polycomb-Associated Non-Coding RNAs.
JD524868 - Sequence 505892 from Patent EP1572962.
JD289918 - Sequence 270942 from Patent EP1572962.
JD036365 - Sequence 17389 from Patent EP1572962.
JD189667 - Sequence 170691 from Patent EP1572962.
JD502139 - Sequence 483163 from Patent EP1572962.
JD085616 - Sequence 66640 from Patent EP1572962.
JD326706 - Sequence 307730 from Patent EP1572962.
JD350475 - Sequence 331499 from Patent EP1572962.
JD445799 - Sequence 426823 from Patent EP1572962.
JD347881 - Sequence 328905 from Patent EP1572962.
JD481719 - Sequence 462743 from Patent EP1572962.
JD140940 - Sequence 121964 from Patent EP1572962.
JD063730 - Sequence 44754 from Patent EP1572962.
JD163092 - Sequence 144116 from Patent EP1572962.
JD058991 - Sequence 40015 from Patent EP1572962.
JD385441 - Sequence 366465 from Patent EP1572962.
JD451162 - Sequence 432186 from Patent EP1572962.
JD083379 - Sequence 64403 from Patent EP1572962.
JD075428 - Sequence 56452 from Patent EP1572962.
JD107054 - Sequence 88078 from Patent EP1572962.
JD415700 - Sequence 396724 from Patent EP1572962.
JD553249 - Sequence 534273 from Patent EP1572962.
JD378947 - Sequence 359971 from Patent EP1572962.
JD284932 - Sequence 265956 from Patent EP1572962.
LF361671 - JP 2014500723-A/169174: Polycomb-Associated Non-Coding RNAs.
JD087437 - Sequence 68461 from Patent EP1572962.
JD396907 - Sequence 377931 from Patent EP1572962.
JD357603 - Sequence 338627 from Patent EP1572962.
JD168082 - Sequence 149106 from Patent EP1572962.
JD043769 - Sequence 24793 from Patent EP1572962.
JD314074 - Sequence 295098 from Patent EP1572962.
JD277009 - Sequence 258033 from Patent EP1572962.
LF361672 - JP 2014500723-A/169175: Polycomb-Associated Non-Coding RNAs.
JD038770 - Sequence 19794 from Patent EP1572962.
JD089832 - Sequence 70856 from Patent EP1572962.
JD440831 - Sequence 421855 from Patent EP1572962.
JD484406 - Sequence 465430 from Patent EP1572962.
JD188441 - Sequence 169465 from Patent EP1572962.
JD356010 - Sequence 337034 from Patent EP1572962.
JD271558 - Sequence 252582 from Patent EP1572962.
JD423552 - Sequence 404576 from Patent EP1572962.
JD419613 - Sequence 400637 from Patent EP1572962.
JD500868 - Sequence 481892 from Patent EP1572962.
JD075661 - Sequence 56685 from Patent EP1572962.
JD527744 - Sequence 508768 from Patent EP1572962.
JD237546 - Sequence 218570 from Patent EP1572962.
JD554412 - Sequence 535436 from Patent EP1572962.
JD138678 - Sequence 119702 from Patent EP1572962.
JD360795 - Sequence 341819 from Patent EP1572962.
JD283631 - Sequence 264655 from Patent EP1572962.
JD438773 - Sequence 419797 from Patent EP1572962.
JD316153 - Sequence 297177 from Patent EP1572962.
JD246067 - Sequence 227091 from Patent EP1572962.
JD327762 - Sequence 308786 from Patent EP1572962.
JD159261 - Sequence 140285 from Patent EP1572962.
JD275822 - Sequence 256846 from Patent EP1572962.
JD313280 - Sequence 294304 from Patent EP1572962.
JD144875 - Sequence 125899 from Patent EP1572962.
LF361673 - JP 2014500723-A/169176: Polycomb-Associated Non-Coding RNAs.
JD385672 - Sequence 366696 from Patent EP1572962.
JD114716 - Sequence 95740 from Patent EP1572962.
JD279586 - Sequence 260610 from Patent EP1572962.
LF361674 - JP 2014500723-A/169177: Polycomb-Associated Non-Coding RNAs.
JD324833 - Sequence 305857 from Patent EP1572962.
JD533538 - Sequence 514562 from Patent EP1572962.
JD367965 - Sequence 348989 from Patent EP1572962.
JD127183 - Sequence 108207 from Patent EP1572962.
JD184807 - Sequence 165831 from Patent EP1572962.
LF361675 - JP 2014500723-A/169178: Polycomb-Associated Non-Coding RNAs.
JD453180 - Sequence 434204 from Patent EP1572962.
JD241459 - Sequence 222483 from Patent EP1572962.
JD193815 - Sequence 174839 from Patent EP1572962.
JD045372 - Sequence 26396 from Patent EP1572962.
JD064175 - Sequence 45199 from Patent EP1572962.
JD498045 - Sequence 479069 from Patent EP1572962.
JD243678 - Sequence 224702 from Patent EP1572962.
AJ549093 - Homo sapiens t(7;16)(q33;p11) translocation breakpoint mRNA for partial chimaeric FUS/BBF2H7 protein, isolate patient 1.
AJ549094 - Homo sapiens t(7;16)(q33;p11) translocation breakpoint mRNA for partial chimaeric FUS/BBF2H7 protein, isolate patient 2.
JD258608 - Sequence 239632 from Patent EP1572962.
JD284484 - Sequence 265508 from Patent EP1572962.
JD134604 - Sequence 115628 from Patent EP1572962.
JD389477 - Sequence 370501 from Patent EP1572962.
LF361677 - JP 2014500723-A/169180: Polycomb-Associated Non-Coding RNAs.
JD449926 - Sequence 430950 from Patent EP1572962.
JD287665 - Sequence 268689 from Patent EP1572962.
LF361682 - JP 2014500723-A/169185: Polycomb-Associated Non-Coding RNAs.
BC015585 - Homo sapiens cDNA clone IMAGE:4642224, **** WARNING: chimeric clone ****.
BC046181 - Homo sapiens cAMP responsive element binding protein 3-like 2, mRNA (cDNA clone IMAGE:5106180), partial cds.
MA597247 - JP 2018138019-A/169173: Polycomb-Associated Non-Coding RNAs.
MA597248 - JP 2018138019-A/169174: Polycomb-Associated Non-Coding RNAs.
MA597249 - JP 2018138019-A/169175: Polycomb-Associated Non-Coding RNAs.
MA597250 - JP 2018138019-A/169176: Polycomb-Associated Non-Coding RNAs.
MA597251 - JP 2018138019-A/169177: Polycomb-Associated Non-Coding RNAs.
MA597252 - JP 2018138019-A/169178: Polycomb-Associated Non-Coding RNAs.
MA597254 - JP 2018138019-A/169180: Polycomb-Associated Non-Coding RNAs.
MA597259 - JP 2018138019-A/169185: Polycomb-Associated Non-Coding RNAs.
JD405443 - Sequence 386467 from Patent EP1572962.
JD273800 - Sequence 254824 from Patent EP1572962.
JD548374 - Sequence 529398 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q70SY1 (Reactome details) participates in the following event(s):

R-HSA-8874187 MBTPS2 (S2P) cleaves CREB3L2
R-HSA-8874205 MBTPS1 (S1P) cleaves CREB3L2
R-HSA-8874211 CREB3 factors activate genes
R-HSA-381119 Unfolded Protein Response (UPR)
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: BBF2H7, CR3L2_HUMAN, ENST00000330387.1, ENST00000330387.10, ENST00000330387.2, ENST00000330387.3, ENST00000330387.4, ENST00000330387.5, ENST00000330387.6, ENST00000330387.7, ENST00000330387.8, ENST00000330387.9, NM_194071, Q6P454, Q6ZMR6, Q70SY1, uc317syn.1, uc317syn.2
UCSC ID: ENST00000330387.11_7
RefSeq Accession: NM_194071.4
Protein: Q70SY1 (aka CR3L2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.