Human Gene CELF2 (uc010qbl.1) Description and Page Index
  Description: Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 3, mRNA.
RefSeq Summary (NM_001025077): Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr10:11,206,993-11,374,605 Size: 167,613 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr10:11,207,468-11,371,016 Size: 163,549 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:11,206,993-11,374,605)mRNA (may differ from genome)Protein (484 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
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OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CELF2_HUMAN
DESCRIPTION: RecName: Full=CUGBP Elav-like family member 2; Short=CELF-2; AltName: Full=Bruno-like protein 3; AltName: Full=CUG triplet repeat RNA-binding protein 2; Short=CUG-BP2; AltName: Full=CUG-BP- and ETR-3-like factor 2; AltName: Full=ELAV-type RNA-binding protein 3; Short=ETR-3; AltName: Full=Neuroblastoma apoptosis-related RNA-binding protein; Short=hNAPOR; AltName: Full=RNA-binding protein BRUNOL-3;
FUNCTION: RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Promotes inclusion of exonS 21 and exclusion of exon 5 of the NMDA receptor R1 pre- mRNA. Involved in the apoB RNA editing activity. Increases COX2 mRNA stability and inhibits COX2 mRNA translation in epithelial cells after radiation injury (By similarity). Modulates the cellular apoptosis program by regulating COX2-mediated prostaglandin E2 (PGE2) expression (By similarity). Binds to (CUG)n triplet repeats in the 3'-UTR of transcripts such as DMPK. Binds to the muscle-specific splicing enhancer (MSE) intronic sites flanking the TNNT2 alternative exon 5. Binds preferentially to UG-rich sequences, in particular UG repeat and UGUU motifs. Binds to apoB mRNA, specifically to AU-rich sequences located immediatly upstream of the edited cytidine. Binds AU-rich sequences in the 3'-UTR of COX2 mRNA (By similarity). Binds to an intronic RNA element responsible for the silencing of exon 21 splicing (By similarity). Binds to (CUG)n repeats (By similarity).
SUBUNIT: Interacts with A1CF (By similarity).
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Accumulates in the cytoplasm after ionizing radiation (By similarity). Colocalizes with APOBEC1 and A1CF. RNA-binding activity is detected in both nuclear and cytoplasmic compartments.
TISSUE SPECIFICITY: Expressed in frontal cortex. Isoform 1 is expressed in brain and lung. Isoform 2 is expressed in heart, brain, placenta, lung, liver, kidney, skeletal muscle and pancreas. Isoform 4 is expressed in heart, lung, skeletal muscle, kidney and pancreas.
DEVELOPMENTAL STAGE: Isoform 1 is expressed in fetal brain. Isoform 2 is expressed in fetal heart, brain, thymus, lung, liver, skeletal muscle, kidney and spleen. Isoform 4 is expressed in fetal heart, brain, thymus, lung and skeletal muscle.
SIMILARITY: Belongs to the CELF/BRUNOL family.
SIMILARITY: Contains 3 RRM (RNA recognition motif) domains.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CELF2
CDC HuGE Published Literature: CELF2
Positive Disease Associations: Coronary Artery Disease , Creatinine , Cystatins , E-Selectin , Glomerular Filtration Rate , Heart Failure , Lipids
Related Studies:
  1. Coronary Artery Disease
    , , . [PubMed 0]
  2. Creatinine
    Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903292]
    Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
  3. Cystatins
    Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903292]
    Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CELF2
Diseases sorted by gene-association score: neuroblastoma (2), childhood absence epilepsy (1), hypoparathyroidism-deafness-renal disease syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 24.95 RPKM in Whole Blood
Total median expression: 531.36 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 -143.20307-0.466 Picture PostScript Text
3' UTR -880.743589-0.245 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
IPR002343 - Hud_Sxl_RNA
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

ModBase Predicted Comparative 3D Structure on O95319
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 Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0036002 pre-mRNA binding

Biological Process:
GO:0006376 mRNA splice site selection
GO:0006396 RNA processing
GO:0006397 mRNA processing
GO:0008016 regulation of heart contraction

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AF090693 - Homo sapiens apoptosis-related RNA binding protein (NAPOR-3) mRNA, complete cds.
AK297380 - Homo sapiens cDNA FLJ50579 complete cds, highly similar to Homo sapiens CUG triplet repeat, RNA binding protein 2 (CUGBP2), transcript variant 3, mRNA.
AK299548 - Homo sapiens cDNA FLJ56893 complete cds, highly similar to Homo sapiens CUG triplet repeat, RNA binding protein 2 (CUGBP2), transcript variant 3, mRNA.
AK314087 - Homo sapiens cDNA, FLJ94762, highly similar to Homo sapiens CUG triplet repeat, RNA binding protein 2 (CUGBP2),mRNA.
BC036391 - Homo sapiens CUG triplet repeat, RNA binding protein 2, mRNA (cDNA clone MGC:41846 IMAGE:5260623), complete cds.
AF090694 - Homo sapiens apoptosis-related RNA binding protein (NAPOR-2) mRNA, complete cds.
U69546 - Homo sapiens RNA-binding protein BRUNOL3 (BRUNOL3) mRNA, complete cds.
AK299983 - Homo sapiens cDNA FLJ50653 complete cds, highly similar to Rattus norvegicus CUG triplet repeat, RNA binding protein 2 (Cugbp2), mRNA.
AK297313 - Homo sapiens cDNA FLJ50576 complete cds, highly similar to Homo sapiens CUG triplet repeat, RNA binding protein 2 (CUGBP2), transcript variant 3, mRNA.
AK299992 - Homo sapiens cDNA FLJ50655 complete cds, highly similar to Homo sapiens CUG triplet repeat, RNA binding protein 2 (CUGBP2), transcript variant 3, mRNA.
AF036956 - Homo sapiens neuroblastoma apoptosis-related RNA binding protein (NAPOR-1) mRNA, complete cds.
AK293164 - Homo sapiens cDNA FLJ54335 complete cds, highly similar to Homo sapiens CUG triplet repeat, RNA binding protein 2 (CUGBP2), transcript variant 3, mRNA.
AF432906 - Homo sapiens neuroblastoma apoptosis-related RNA-binding protein isoform 4 mRNA, complete cds.
AK316354 - Homo sapiens cDNA, FLJ79253 complete cds, highly similar to Homo sapiens CUG triplet repeat, RNA binding protein 2 (CUGBP2), transcript variant 3, mRNA.
AK304216 - Homo sapiens cDNA FLJ52051 complete cds, highly similar to Rattus norvegicus CUG triplet repeat, RNA binding protein 2 (Cugbp2), mRNA.
AK310038 - Homo sapiens cDNA, FLJ17080.
AK302681 - Homo sapiens cDNA FLJ52370 complete cds, highly similar to Homo sapiens CUG triplet repeat, RNA binding protein 2 (CUGBP2), transcript variant 3, mRNA.
AK295511 - Homo sapiens cDNA FLJ51739 complete cds, highly similar to Homo sapiens CUG triplet repeat, RNA binding protein 2 (CUGBP2), transcript variant 2, mRNA.
JD022079 - Sequence 3103 from Patent EP1572962.
JD035730 - Sequence 16754 from Patent EP1572962.
KY966266 - Homo sapiens cell line 95T1000 KDM2B/CELF2 fusion mRNA, partial sequence.
DL492025 - Novel nucleic acids.
DL490577 - Novel nucleic acids.
AF086447 - Homo sapiens full length insert cDNA clone ZD81F07.
CR936676 - Homo sapiens mRNA; cDNA DKFZp686O018 (from clone DKFZp686O018).
JD286257 - Sequence 267281 from Patent EP1572962.
JD053243 - Sequence 34267 from Patent EP1572962.
JD090638 - Sequence 71662 from Patent EP1572962.
JD556033 - Sequence 537057 from Patent EP1572962.
JD325070 - Sequence 306094 from Patent EP1572962.
JD363625 - Sequence 344649 from Patent EP1572962.
JD511223 - Sequence 492247 from Patent EP1572962.
JD058979 - Sequence 40003 from Patent EP1572962.
JD436880 - Sequence 417904 from Patent EP1572962.
JD246758 - Sequence 227782 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK299992, B7ZAN9, BRUNOL3, CELF2_HUMAN, CUGBP2, ETR3, NAPOR, NM_001025077, NP_001020248, O95319, Q7KYU4, Q8N499, Q92950, Q96NW9, Q96RQ5, Q96RQ6, Q9UL67
UCSC ID: uc010qbl.1
RefSeq Accession: NM_001025077
Protein: O95319 (aka CELF2_HUMAN)
CCDS: CCDS41488.1, CCDS44356.1, CCDS44354.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK299992.1
exon count: 13CDS single in 3' UTR: no RNA size: 1769
ORF size: 1455CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 2824.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.