Human Gene CELF4 (uc002lah.2)
  Description: Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 4, mRNA.
RefSeq Summary (NM_001025089): 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr18:34,846,183-34,853,123 Size: 6,941 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr18:34,846,491-34,853,102 Size: 6,612 Coding Exon Count: 3 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:34,846,183-34,853,123)mRNA (may differ from genome)Protein (114 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsH-INV
HGNCLynxMalacardsMGIPubMedTreefam
UniProtKBWikipedia

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CELF4
CDC HuGE Published Literature: CELF4
Positive Disease Associations: Angiography , Isoxazoles , Lipids , Monocytes , Telomere
Related Studies:
  1. Angiography
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
  2. Isoxazoles
    S Volpi et al. Molecular psychiatry 2009, Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia., Molecular psychiatry. [PubMed 18521091]
  3. Lipids
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CELF4
Diseases sorted by gene-association score: benign epilepsy with centrotemporal spikes (4)

-  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: 37.63 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 283.39 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 -3.1021-0.148 Picture PostScript Text
3' UTR -134.90308-0.438 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
  ModBase Predicted Comparative 3D Structure on A0PK06
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     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AK126716 - Homo sapiens cDNA FLJ44762 fis, clone BRACE3031743.
BC045711 - Homo sapiens bruno-like 4, RNA binding protein (Drosophila), mRNA (cDNA clone MGC:48297 IMAGE:5261155), complete cds.
BC001946 - Homo sapiens bruno-like 4, RNA binding protein (Drosophila), mRNA (cDNA clone MGC:4320 IMAGE:2820541), complete cds.
BC004167 - Homo sapiens bruno-like 4, RNA binding protein (Drosophila), mRNA (cDNA clone MGC:2693 IMAGE:2820541), complete cds.
AK074596 - Homo sapiens cDNA FLJ90115 fis, clone HEMBA1006770, weakly similar to FLOWERING TIME CONTROL PROTEIN FCA.
AB209774 - Homo sapiens mRNA for bruno-like 4, RNA binding protein variant protein.
AF329265 - Homo sapiens CUG-BP and ETR-3 like factor 4 (CELF4) mRNA, complete cds.
KJ902912 - Synthetic construct Homo sapiens clone ccsbBroadEn_12306 CELF4 gene, encodes complete protein.
AK295009 - Homo sapiens cDNA FLJ54925 complete cds, highly similar to Mus musculus bruno-like 4, RNA binding protein (Drosophila) (Brunol4), mRNA.
AF141345 - Homo sapiens LYST-interacting protein LIP9 mRNA, partial cds.
AF248650 - Homo sapiens RNA-binding protein BRUNOL4 (BRUNOL4) mRNA, partial cds.
AF248651 - Homo sapiens RNA-binding protein BRUNOL4 (BRUNOL4) mRNA, partial cds.
BC127795 - Homo sapiens bruno-like 4, RNA binding protein (Drosophila), mRNA (cDNA clone IMAGE:40133346), complete cds.
AK091694 - Homo sapiens cDNA FLJ34375 fis, clone FEBRA2017533.
AX747133 - Sequence 658 from Patent EP1308459.

-  Other Names for This Gene
  Alternate Gene Symbols: A0PK06, A0PK06_HUMAN, BC127795, BRUNOL4
UCSC ID: uc002lah.2
RefSeq Accession: NM_001025089
Protein: A0PK06

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC127795.1
exon count: 3CDS single in 3' UTR: no RNA size: 681
ORF size: 345CDS single in intron: no Alignment % ID: 99.85
txCdsPredict score: 879.50frame shift in genome: no % Coverage: 97.65
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 313# 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.