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FLASH GENE
Symbol CYFIP2 contributors: mct - updated : 18-12-2018
HGNC name cytoplasmic FMR1 interacting protein 2
HGNC id 13760
Corresponding disease
EIEE65 epileptic encephalopathy, early infantile, 65
Location 5q33.3      Physical location : 156.693.090 - 156.822.604
Synonym name
  • P53 inducible interacting protein 2
  • p53-inducible protein 121
  • Synonym symbol(s) CYIP2, KIAA1168, PIR121
    DNA
    TYPE functioning gene
    STRUCTURE 129.52 kb     31 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   HRE
    text structure
  • promoter contains a TP53-responsive element that confers TP53 binding as well as transcriptional activation of a heterologous reporter
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text variants 1, 2, and 3 all encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    31 - 6498 145.5 1253 - 2018 29752658
    - - 6791 145.5 1253 - 2018 29752658
    31 - 6625 145.5 1253 - 2018 29752658
    32 - 6574 - 1278 - 2018 29752658
    30 - 6421 - 1227 - 2018 29752658
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    intraspecies homolog to CYFIP1
    Homologene
    FAMILY
  • CYFIP family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    text colocalized with FMRP and ribosomes
    basic FUNCTION
  • CYFIP2 could be implicated in the dendritic spine phenotype of fragile X syndrome
  • misregulation of CYFIP2 function and its GRM1-induced expression contribute to the neurobehavioral phenotypes of fragile X syndrome
  • CYFIP2 is part of the Wiskott-Aldrich syndrome protein-family verprolin-homologous protein complex, which has been implicated in actin polymerization at synapses, a process thought to be required for memory formation
  • is a major significant genetic factor underlying binge eating
  • CYFIP2 regulates the innate startle threshold by reducing neural activity in a small group of excitatory hindbrain interneurons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to FXR1, FXR2, FMR1
  • CYFIP2 is a direct TP53 target gene that may be part of a redundant network of genes responsible for TP53-dependent apoptosis
  • NCKAP1 interacts directly with CYFIP2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE65
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in autism spectrum disorder (ASD)
    constitutional     --low  
    reduced CYFIP2 expression triggers a cascade of change towards Alzheimer disease, including amyloid production, tau hyperphosphorylation and memory loss
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • CYFIP2 and RBBP9 are two novel ALS (amyotrophic lateral sclerosis) potential biomarkers in non-neural tissues from ALS patients that may have direct diagnostic and therapeutic implications to the disease
  • Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    could be a potential hub for targeting treatment of the disease
    ANIMAL & CELL MODELS