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FLASH GENE
Symbol CELF2 contributors: mct - updated : 16-03-2011
HGNC name CUGBP, Elav-like family member 2
HGNC id 2550
Corresponding disease
DGS2 DiGeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
Location 10p14      Physical location : 11.047.258 - 11.378.670
Synonym name
  • CUG triplet repeat, RNA binding protein 2
  • ELAV-type RNA binding protein 3
  • neuroblasma apoptosis-related RNA-binding protein
  • neuroplastoma apoptosis-related RNA-binding protein 3
  • Bruno-like protein 3
  • CUG-BP- and ETR-3-like factor 2
  • Synonym symbol(s) NAPOR, ETR3, BRUNOL3, NAPOR-2, CUGBP2, Etr-3
    DNA
    TYPE functioning gene
    STRUCTURE 331.42 kb     15 Exon(s)    1 Copie(s)
    motif repetitive sequence
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 8059 52.14 490 overexpressed following gamma-irradiation 2008 18258790
  • also called NAPOR-1
  • predominantly nuclear
  • induces intestinal epithelial cells to undergo apoptosis
  • cells expressing CELF2 variant 1 undergo apoptosis during mitosis, suggesting mitotic catastrophe
  • 15 splicing 8005 - 521 ubiquitous, predominant isoform in normal intestine 2008 18258790
  • also called NAPOR-2
  • predominantly cytoplasmic
  • 14 splicing 9256 54.2 508 neuron and lung specific, fetal brain 2008 18258790
  • also called NAPOR-3
  • predominantly cytoplasmic
  • 15 - 8053 52 488 - 2007 17383427
    also called NAPOR-4
    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