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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
    Physical map
    FLJ11526 5q33.2 hypothetical protein FLJ11526 HAND1 5q32 heart and neural crest derivatives expressed 1 LOC389339 5 LOC389339 LARP 5q33.2 likely ortholog of mouse la related protein C5orf4 5q31-q32 chromosome 5 open reading frame 4 CNOT8 5q31-q33 CCR4-NOT transcription complex, subunit 8 GEMIN5 5q33.3 gem (nuclear organelle) associated protein 5 MRPL22 5q33.1-q33.3 mitochondrial ribosomal protein L22 LOC285643 5q33.2 similar to Chromosome-associated kinesin KIF4A (Chromokinesin) LOC391842 5 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC389340 5 LOC389340 SGCD 5q33 sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) LOC153743 5q33.3 similar to protein phosphatase 1, regulatory (inhibitor) subunit 2 LOC91937 5q33.3 hypothetical protein BC008988 HAVCR1 5q33.2 hepatitis A virus cellular receptor 1 HAVCR2 5q34 hepatitis A virus cellular receptor 2 CRSP9 5q33.2 cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa MGC26988 5q33.3 hypothetical protein MGC26988 ITK 5q33.1 IL2-inducible T-cell kinase CYFIP2 5q34 cytoplasmic FMR1 interacting protein 2 LOC348938 5q33.3 hypothetical protein LOC348938 ADAM19 5q32-q33 a disintegrin and metalloproteinase domain 19 (meltrin beta) SOX30 5q33 a disintegrin and metalloproteinase domain 19 (meltrin beta) LOC389341 5 similar to RIKEN cDNA 4921536K21 FLJ20546 5q33.3 hypothetical protein FLJ20546 LSM11 5q33.3 U7 snRNA-associated Sm-like protein ENTH 5q23.1-q33.3 U7 snRNA-associated Sm-like protein LOC391843 5 similar to 60S acidic ribosomal protein P2 LOC345471 5q33.3 similar to Hsp90 co-chaperone Cdc37 (Hsp90 chaperone protein kinase-targeting subunit) (p50Cdc37) LOC285721 5q33.3 hypothetical LOC285721 EBF 5q34 early B-cell factor FLJ31951 5q33.3 hypothetical protein FLJ31951 MGC10067 5q33.3 hypothetical protein MGC10067 IL12B 5q31.1-q33.1 interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) ADRA1B 5q33.1 adrenergic, alpha-1B-, receptor
    RNA
    TRANSCRIPTS type messenger
    text variants 1, 2, and 3 all encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    31 - 6498 145.5 1253 - -
    - - 6791 145.5 1253 - -
    31 - 6625 145.5 1253 - -
    32 - 6574 - 1278 - -
    30 - 6421 - 1227 - -
    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
  • 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