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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CELF2 Gene

protein-coding   GIFtS: 57
GCID: GC10P011049

CUGBP, Elav-like family member 2

(Previous names: CUG triplet repeat, RNA-binding protein 2, CUG triplet...)
(Previous symbol: CUGBP2)
 Explore 18 diseases affiliated with
CELF2 via our new
 Human Malady Compendium 
Biological research products
for CELF2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
CUGBP, Elav-Like Family Member 21 2     NAPOR2 3
BRUNOL31 2 3 5     CUG Triplet Repeat RNA-Binding Protein 22 3
CUGBP21 2 3 5     CUG-BP- And ETR-3-Like Factor 22 3
ETR32 3 5     ELAV-Type RNA-Binding Protein 32 3
CUG Triplet Repeat, RNA Binding Protein 21 2     HNAPOR1
Bruno-Like Protein 32 3     RNA-Binding Protein BRUNOL-32 3
Neuroblastoma Apoptosis-Related RNA-Binding Protein2 3     Etr-31
CELF-22 3     NAPOR-21
CUG-BP22 3     CUG Triplet Repeat, RNA-Binding Protein 21
ETR-32 3     CUGBP Elav-Like Family Member 22

External Ids:    HGNC: 25501   Entrez Gene: 106592   Ensembl: ENSG000000487407   OMIM: 6025385   UniProtKB: O953193   

Export aliases for CELF2 gene to outside databases

Previous GC identifers: GC10P011048 GC10P010966


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CELF2:
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)

UniProtKB/Swiss-Prot: CELF2_HUMAN, O95319
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)

Gene Wiki entry for CELF2 (CUGBP2)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CELF2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CELF2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CELF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CELF2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p13   Ensembl cytogenetic band:  10p14   HGNC cytogenetic band: 10p13

CELF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CELF2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P011049:  view genomic region     (about GC identifiers)

Start:
11,047,259 bp from pter      End:
11,378,674 bp from pter
Size:
331,416 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CELF2_HUMAN, O95319 (See protein sequence)
Recommended Name: CUGBP Elav-like family member 2  
Size: 508 amino acids; 54285 Da
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
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
Secondary accessions: B7ZAN9 Q7KYU4 Q8N499 Q92950 Q96NW9 Q96RQ5 Q96RQ6 Q9UL67
Alternative splicing: 5 isoforms:  O95319-1   O95319-2   O95319-3   O95319-4   O95319-5   

Explore the universe of human proteins at neXtProt for CELF2: NX_O95319

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95319

  • CELF2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001020247.1  NP_001020248.1  NP_001077060.1  NP_006552.3  

    ENSEMBL proteins: 
     ENSP00000315328   ENSP00000346426   ENSP00000346971   ENSP00000368563   ENSP00000406451  
     ENSP00000389951   ENSP00000443926   ENSP00000382743   ENSP00000404834   ENSP00000388530  
     ENSP00000438884  

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    Novus Biologicals CELF2 Proteins
    Novus Biologicals CELF2 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CELF2

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--


    CELF2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CELF2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CELF2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom
     IPR002343 Hud_Sxl_RNA

    Graphical View of Domain Structure for InterPro Entry O95319

    ProtoNet protein and cluster: O95319

    1 Blocks protein family: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: CELF2_HUMAN, O95319
    Similarity: Belongs to the CELF/BRUNOL family
    Similarity: Contains 3 RRM (RNA recognition motif) domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CELF2_HUMAN, O95319
    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)

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    hsa-miR-124* hsa-miR-140-5p hsa-miR-361-5p hsa-miR-376b hsa-miR-106a hsa-miR-146a hsa-miR-199a-3p hsa-miR-134
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003723RNA binding IEA--


    CELF2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CELF2:
     Synthetic lethal with imatinib 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1mRNA Splicing - Major Pathway
    mRNA processing0.48


    1 BioSystems Pathway for CELF2 
        mRNA processing


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CELF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for CELF2 (O953192, 3 ENSP000003899514) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCBP1Q153652, 3, ENSP000003055564MINT-2868675 I2D: score=3 STRING: ENSP00000305556
    APOBEC1P412383, ENSP000002293044I2D: score=1 STRING: ENSP00000229304
    A1CFQ9NQ943, ENSP000002826414I2D: score=2 STRING: ENSP00000282641
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006376mRNA splice site selection ----
    GO:0006396RNA processing TAS9887331
    GO:0006397mRNA processing IEA--
    GO:0008016regulation of heart contraction TAS9887331


    CELF2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CELF2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CELF2

    2 HMDB Compounds for CELF2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cytidine1-(b-D-Ribofuranosyl)-2-oxo-4-amino-1,2-dihydro-1,3-diazine (see all 20)65-46-3--
    Prostaglandin E2(-)-Prostaglandin E2 (see all 22)363-24-6--
    1 Novoseek chemical compound relationship for CELF2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 6.11 1 7585245 (1)

    Search CenterWatch for drugs/clinical trials and news about CELF2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CELF2 gene (4 alternative transcripts): 
    NM_001025076.2  NM_001025077.2  NM_001083591.1  NM_006561.3  

    Unigene Cluster for CELF2:

    CUGBP, Elav-like family member 2
    Hs.309288  [show with all ESTs]
    Unigene Representative Sequence: NM_001025077
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000315874(uc010qbk.1 uc010qbm.1) ENST00000354440(uc001ikk.2 uc010qbl.1 uc010qbp.1)
    ENST00000354897 ENST00000379261(uc010qbi.2 uc010qbj.1 uc001iki.4)
    ENST00000416382 ENST00000450189(uc001ikl.4) ENST00000542579 ENST00000399850(uc010qbo.1)
    ENST00000417956(uc009xiw.1) ENST00000427450(uc001iko.4 uc001ikp.4)
    ENST00000537122

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    hsa-miR-124* hsa-miR-140-5p hsa-miR-361-5p hsa-miR-376b hsa-miR-106a hsa-miR-146a hsa-miR-199a-3p hsa-miR-134
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    Additional cDNA sequence: 

    AF036956.1 AF086447.1 AF090693.1 AF090694.1 AF432906.1 AK293164.1 AK295511.1 AK297313.1 
    AK297380.1 AK299548.1 AK299983.1 AK299992.1 AK302681.1 AK304216.1 AK310038.1 AK314087.1 
    AK316354.1 BC036391.1 BC050635.1 BX647703.1 CR936676.1 U69546.1 

    24/33 DOTS entries (see all 33):

    DT.444499  DT.101960230  DT.95074009  DT.97819078  DT.95255913  DT.100030160  DT.91750926  DT.101969833 
    DT.121262991  DT.91653315  DT.100823247  DT.121263174  DT.216871  DT.97855182  DT.121263144  DT.216872 
    DT.91750927  DT.121262966  DT.121263151  DT.121263069  DT.40117190  DT.91833505  DT.92058076  DT.100823254 

    24/451 AceView cDNA sequences (see all 451):

    BU736216 BM473904 AI783598 BX643214 BX483433 BM699598 BF510414 AI064950 
    W70053 BM671832 AL133765 AA670420 BE894472 AI707797 BQ718002 AA744702 
    AA403114 BM719338 BM667569 BM680801 AA450229 AA213736 AI655910 AW070500 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CELF2 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c ^ 19
    SP1:                    -           -     -           -                 -                                   -     -                             -     -         
    SP2:              -     -           -     -           -                 -                                               -                                       
    SP3:              -     -           -     -           -                 -                                   -     -                             -     -         
    SP4:                                -     -           -                 -                                   -     -     -                                       
    SP5:              -     -           -     -                                                                                                                     


    ECgene alternative splicing isoforms for CELF2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CELF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAACGTTTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CELF2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneMaxillary ProcessBone
    KidneyInterstitial StromaKidney
    LungLung BudLung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Definitive endoderm-like cells (A scalable, suspensi...)

    See CELF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CELF2

    SOURCE GeneReport for Unigene cluster: Hs.309288

    UniProtKB/Swiss-Prot: CELF2_HUMAN, O95319
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CELF2 gene from 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CELF21 CUGBP, Elav-like family member 2 90.15(n)
    98.97(a)
      374111  NM_204260.1  NP_989591.1 
    lizard
    (Anolis carolinensis)
    Reptilia CELF26
    --
    98(a)
    1 ↔ 1
    5(5673301-5753670)
    African clawed frog
    (Xenopus laevis)
    Amphibia U69547.12   -- 86.85(n)    U69547.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AB050496.12   -- 79.96(n)   373117  AB050496.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta aret1 arrest 55.76(n)
    56.82(a)
      34648  NM_165003.2  NP_723738.1 
    worm
    (Caenorhabditis elegans)
    Secernentea etr-16
    ELAV-Type RNA binding protein family member (etr-1...
    34(a)
    1 → many
    II(162374-170628)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G034571 RNA recognition motif-containing protein 42.95(n)
    33.07(a)
      839497  NM_100228.8  NP_171845.2 
    rice
    (Oryza sativa)
    Liliopsida Os05g03734001 hypothetical protein 47.73(n)
    42.27(a)
      4338600  NM_001061902.1  NP_001055367.2 


    ENSEMBL Gene Tree for CELF2 (if available)
    TreeFam Gene Tree for CELF2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CELF2 gene
    CELF12  CELF42  CELF32  CELF62  CELF52  
    10 SIMAP similar genes for CELF2 using alignment to 4 protein entries:     CELF2_HUMAN (see all proteins):
    CELF1    TNRC4    CELF3    CELF6    CELF4    RBMS2
    BRUNOL6    CELF5    HNRNPA1    RBM4B

    CELF2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/910 NCBI SNPs in CELF2 are shown (see all 910    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs776091711,2
    --11032179(+) CCTCCG/ATTTTA 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs112569641,2
    C,F,H,--11032280(+) ACTGAG/CGCTAC 2 -- int14Minor allele frequency- C:0.01NS EA 418
    rs1134498521,2
    --11032353(+) AAGAGA/GTTTTT 2 -- int12Minor allele frequency- G:0.02CSA WA 120
    rs1131672201,2
    C,--11033167(+) ACTATG/ATGAGA 2 -- int12Minor allele frequency- A:0.03CSA WA 120
    rs27625381,2
    C,F,O,A,H,--11033478(+) AGGCAG/ACCCCA 2 -- int111Minor allele frequency- A:0.09NA NS EA CSA WA 804
    rs113701251,2
    C,--11033631(+) TTCCC-/TTTTTT 2 -- int10--------
    rs343577811,2
    C--11033632(+) TTTTTT/-ACATT 2 -- int11Minor allele frequency- -:0.00NA 2
    rs18862811,2
    C,F,O,A,H,--11033941(+) GCAATA/CATACT 2 -- int119Minor allele frequency- C:0.12NS EA NA WA CSA 2036
    rs760189881,2
    F,--11034625(+) CCTTCG/ATGTTT 2 -- int11Minor allele frequency- A:0.02NA 120
    rs24770221,2
    C,F,H,--11034731(+) TCAAAT/AGTAAA 2 -- int16Minor allele frequency- A:0.08NS EA WA NA 658

    HapMap Linkage Disequilibrium report for CELF2 (11047259 - 11297259 bp, first 250kb of CELF2)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 12 variations for CELF2
         9 CNVs: 75099 85103 70921 1217 85104 75097 85102 1872 75098
         3 Indels: 24326 100865 75100

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CELF2 for disorders           About GeneDecksing

    OMIM gene information: 602538    OMIM disorders: --

    18 diseases for CELF2:    About MalaCards
    arrhythmogenic right ventricular dysplasia    childhood absence epilepsy    absence epilepsy    neuroblastoma
    myotonic dystrophy    oral leukoplakia    leukoplakia    differentiating neuroblastoma
    conduct disorder    squamous cell carcinoma    adhd    alzheimer's disease
    colon cancer    breast cancer    ataxia    schizophrenia
    carcinoma    malaria

    2 Novoseek disease relationships for CELF2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myotonic dystrophy 52.1 1 9887331 (1)
    tumors 0 1 15489060 (1)

    Human Genome Epidemiology (HuGE) Navigator: CELF2 (0 documents)

    Export disorders for CELF2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CELF2 gene, integrated from 9 sources (see all 62):
    (articles sorted by number of sources associating them with CELF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization and isoform-specific tissue expression of human NAPOR (CUGBP2) as a candidate gene for familial arrhythmogenic right ventricular dysplasia. (PubMed id 11414768)1, 2, 9 Li D.... Roberts R. (2001)
    2. Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy. (PubMed id 9887331)1, 3, 9 Lu X....Timchenko L.T. (1999)
    3. Identification of CELF splicing activation and repression domains in vivo. (PubMed id 15894795)1, 2, 9 Han J. and Cooper T.A. (2005)
    4. Developmentally-regulated expression of mNapor encoding an apoptosis- induced ELAV-type RNA binding protein. (PubMed id 10524244)1, 2, 9 Choi D.-K.... Sakaki Y. (1999)
    5. A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator. (PubMed id 10893231)1, 2, 9 Good P.J.... Herring D.C. (2000)
    6. ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivo. (PubMed id 14973222)1, 2 Singh G.... Cooper T.A. (2004)
    7. The CELF family of RNA binding proteins is implicated in cell- specific and developmentally regulated alternative splicing. (PubMed id 11158314)1, 2 Ladd A.N.... Cooper T.A. (2001)
    8. Novel role for RNA-binding protein CUGBP2 in mammalian RNA editing. CUGBP2 modulates C to U editing of apolipoprotein B mRNA by interacting with apobec-1 and ACF, the apobec-1 complementation factor. (PubMed id 11577082)1, 2 Anant S.... Davidson N.O. (2001)
    9. Single pass sequencing of a unidirectional human fetal heart cDNA library to discover novel genes of the cardiovascular system. (PubMed id 7869393)1, 3 Hwang D.M....Liew C.C. (1994)
    10. Fluorescent differential display analysis of gene expression in apoptotic neuroblastoma cells. (PubMed id 9858671)2, 9 Choi D.-K.... Sakaki Y. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10659 HGNC: 2550 AceView: CUGBP2 Ensembl:ENSG00000048740 euGenes: HUgn10659
    ECgene: CELF2 H-InvDB: CELF2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CELF2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CELF2 gene:
    Search GeneIP for patents involving CELF2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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