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FLASH GENE
Symbol CELF4 contributors: mct - updated : 13-07-2018
HGNC name CUGBP, Elav-like family member 4
HGNC id 14015
Location 18q12.2      Physical location : 34.823.007 - 35.146.000
Synonym name
  • CUG-BP and ETR-3 like factor 4
  • LYST-interacting protein LIP9
  • RNA-binding protein BRUNOL4
  • bruno-like 4, RNA binding protein (Drosophila)
  • Synonym symbol(s) BRUNOL-4, BRUNOL4, CELF-4
    DNA
    TYPE functioning gene
    STRUCTURE 323.00 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 4070 51.9 486 - 2007 17672918
    13 - 4067 51.7 485 - 2007 17672918
    13 - 4064 51.62 484 - 2007 17672918
    12 - 3956 47.6 448 - 2007 17672918
    13 - 4064 - 484 - 2007 17672918
    13 - 4023 - 474 - 2007 17672918
    12 - 3972 - 457 - 2007 17672918
    12 - 3942 - 447 - 2007 17672918
    14 - 4050 - 483 - 2007 17672918
    13 - 4056 - 485 - 2007 17672918
    12 - 3939 - 446 - 2007 17672918
    12 - 3942 - 447 - 2007 17672918
    2 - 2367 - 292 - 2007 17672918
    14 - 4108 - 526 - 2007 17672918
    13 - 4080 - 493 - 2007 17672918
    12 - 3939 - 446 - 2007 17672918
    13 - 4086 - 495 - 2007 17672918
    12 - 3975 - 458 - 2007 17672918
    13 - 4026 - 475 - 2007 17672918
    13 - 4023 - 474 - 2007 17672918
    13 - 4020 - 473 - 2007 17672918
    13 - 4047 - 482 - 2007 17672918
    12 - 3942 - 447 - 2007 17672918
    13 - 4020 - 473 - 2007 17672918
    13 - 4024 - 498 - 2007 17672918
    12 - 3966 - 455 - 2007 17672918
    13 - 4089 - 496 - 2007 17672918
    14 - 4050 - 483 - 2007 17672918
    12 - 3942 - 447 - 2007 17672918
    12 - 3939 - 446 - 2007 17672918
    13 - 4023 - 474 - 2007 17672918
    12 - 3936 - 445 - 2007 17672918
    12 - 3972 - 457 - 2007 17672918
    13 - 4053 - 484 - 2007 17672918
    13 - 4020 - 473 - 2007 17672918
    14 - 4105 - 525 - 2007 17672918
    12 - 3939 - 446 - 2007 17672918
    14 - 4102 - 524 - 2007 17672918
    12 - 3969 - 456 - 2007 17672918
    12 - 3969 - 456 - 2007 17672918
    14 - 4135 - 535 - 2007 17672918
    12 - 3939 - 446 - 2007 17672918
    15 - 4181 - 531 - 2007 17672918
    14 - 4138 - 536 - 2007 17672918
    15 - 4190 - 534 - 2007 17672918
    12 - 3969 - 456 - 2007 17672918
    12 - 3966 - 455 - 2007 17672918
    13 - 4053 - 484 - 2007 17672918
    14 - 4099 - 523 - 2007 17672918
    15 - 4223 - 545 - 2007 17672918
    14 - 4105 - 525 - 2007 17672918
    13 - 4113 - 504 - 2007 17672918
    12 - 3972 - 457 - 2007 17672918
    13 - 4056 - 485 - 2007 17672918
    13 - 4053 - 484 - 2007 17672918
    14 - 4135 - 535 - 2007 17672918
    12 - 3969 - 456 - 2007 17672918
    13 - 4026 - 475 - 2007 17672918
    15 - 4220 - 544 - 2007 17672918
    13 - 4023 - 474 - 2007 17672918
    13 - 4056 - 485 - 2007 17672918
    13 - 4026 - 475 - 2007 17672918
    13 - 4023 - 474 - 2007 17672918
    12 - 3969 - 456 - 2007 17672918
    13 - 4023 - 474 - 2007 17672918
    12 - 3506 - 362 - 2007 17672918
    13 - 3479 - 353 - 2007 17672918
    12 - 3392 - 324 - 2007 17672918
    13 - 3476 - 352 - 2007 17672918
    13 - 3476 - 352 - 2007 17672918
    13 - 3503 - 361 - 2007 17672918
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   moderately
    Digestiveliver   highly
    Endocrineneuroendocrinepituitary  highly
    Nervousbrainforebraincerebral cortex highly Homo sapiens
     brainlimbic systemhippocampus highly Homo sapiens
    Urinarykidney   moderately
    Visualeyeretina  highly Mus musculusFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    Nervouspyramidal cell Homo sapiens
    Visualganglion cell Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N terminal consecutive RNA recognition motifs (RRM)
  • protein kinase C phosphorylation sites
  • protein kinase II phosphorylation sites
  • nuclear localization signal
  • a 20-residue region required for repression or activation
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to Drosophila CG10046
    homolog to murine Brunol4
    homolog to C.elegans C17D12.2
    intraspecies paralog to CUGBP1
    paralog to BRUNOL5
    Homologene
    FAMILY
  • Bruno-like RNA binding protein
  • CELF/BRUNOL family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • involved in the regulation of alternative splicing by nucleic acid binding activity
  • implicated in two major post-transcriptional regulatory processes, namely the alternative splicing and the control of translation and stability of target mRNAs
  • CELF4 plays a specific role in regulating excitatory neurotransmission
  • is critical for maintaining mRNA stability and availability for translation
  • RNA-binding protein that links to RNA subsets involved in pre- and postsynaptic neurotransmission including almost 30p100 of potential autism-related genes
  • potential role for CELF4 in brain development and autism spectrum disorders
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA binding
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    with haploinsufficiency of CELF4 in syndromic intellectual disability and autism
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice deficient for neuronal RNA-binding protein Celf4 have a complex neurological disorder with epilepsy as a prominent feature
  • altered excitatory neurotransmission resulting from Celf4 deficiency underlies the complex seizure disorder in Celf4 mutant mice