Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CELF2 contributors: mct - updated : 16-03-2011
HGNC name CUGBP, Elav-like family member 2
HGNC id 2550
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestivemouthtongue (see gustatory)   
Lymphoid/Immunelymph node    
 thymus   highly
Nervousbrain   highly
Skin/Tegumentskin    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text thymus
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three RNA recognition motifs with homology to several RNA binding proteins
  • HOMOLOGY
    interspecies homolog to murine Napor
    intraspecies homolog to ETR3
    homolog to CUGBP1
    Homologene
    FAMILY
  • Bruno-like family of RNA-binding proteins
  • CELF/BRUNOL family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • playing a role in apoptotic processes
  • required for the proper development and maintenance of neurons presumably by affecting RNA metabolism
  • playing an important role in thymus development
  • implicated in two major post-transcriptional regulatory processes, namely the alternative splicing and the control of translation and stability of target mRNAs
  • RNA-binding protein that regulates mRNA translation and modulates apoptosis
  • having a determinative role for a large subset of splicing transitions that occur during postnatal heart development
  • autoregulatory role as indicated by its direct interaction with functionally significant RNA motifs surrounding the branch sites upstream of exon 6 of the CELF2 transcript itself
  • strongly stimulates CFTR exon 9 skipping, although both proteins bind efficiently to the same RNA motif as TARDBP and with higher affinity
  • both CELF1 and CELF2 regulate several RNA targets in a similar way
  • CELF1 and CELF2 may underlie conserved, developmentally regulated, tissue-specific processes in vertebrate embryos
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • novel CFTR splice repressor protein that, depending on its level and type of intron 8 polymorphism, may impose a strong control of the amount of correctly spliced CFTR transcript in the region of exon 9
  • cell & other
  • could bind avidly to UG repeats and control splicing events in live cells
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DGS2
    Susceptibility to familial late-onset Alzheimer disease
    Variant & Polymorphism SNP
  • SNPs on chromosome 10p14 in CUGBP2, in association with APOE epsilon4 homozygotes associated to familial late-onset Alzheimer disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS