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FLASH GENE
Symbol AFF2 contributors: mct/npt/pgu - updated : 15-05-2018
HGNC name AF4/FMR2 family, member 2
HGNC id 3776
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunelymph node    
Nervousbrainhindbraincerebellum   Homo sapiens
 braindiencephalonhypothalamus highly Homo sapiens
 braindiencephalonamygdala highly Homo sapiens
 brainlimbic systemhippocampus  
Reproductivefemale systemplacenta  highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral    Homo sapiens
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text fetal brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal homology domain is a region of homology shared by the four AFF members
  • an ALF domain
  • a transactivation domain
  • a NTD domain at the N terminus required for the transactivation
  • and able to affect transcription
  • a nuclear localization signal
  • a C terminal CHD domain, modulating splicing, C-terminal homology domain, another region of homology among the AFF proteins, is involved in the intranuclear localization of FMR2 as well as in its ability to bind the G-quadruplex RNA-forming structure
  • HOMOLOGY
    interspecies homolog to drosophila Lili
    intraspecies homolog to MLLT2 (AF4), LAF4,highly
    Homologene
    FAMILY
  • AF4 family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,nucleolus
    text
  • localized in the nucleolus when splicing is blocked
  • also localized in SC35-containing nuclear speckles, being implicated in splicing
  • localizes to nuclear speckles, subnuclear structures considered as storage/modification sites of pre-mRNA splicing factors
  • is localized to the nuclear speckles
  • basic FUNCTION
  • activator of transcription involved in non-specific X-linked mental retardation
  • playing a role in early embryonic stages of the development of brain and other tissues
  • may be a RNA-binding protein, which might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure
  • multifunctional protein linking RNA metabolism and transcriptional control
  • potential role for AFF2/FMR2 protein in synaptic plasticity
  • modulates alternative splicing via the interaction with the G-quadruplex RNA-forming structure
  • possible functional redundancy among the AFF family members in the regulation of splicing and transcription
  • functional redundancy for AFF2/AFF3/AFF4 proteins during brain development
  • regulates transcription, promotes alternative splicing with preference for G-quartet structure harbouring exons
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text brain development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to SIAH proteins
  • interacting with FMR1 (influences the alternative splicing pattern of the mRNA of FMR1, which contains a G-quartet nearby an acceptor site of the alternatively spliced exon 14)
  • is an upstream regulator of FOS and JUN, and further link deregulation of the immediate early response genes to the pathology of intellectual disability (ID)- and FRAXE-associated ID in particular
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FRAXE
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    microdeletions in FMR2 may be a significant cause of premature ovarian failure
    Susceptibility to Autism spectrum disorder (ASD)
    Variant & Polymorphism other rare AFF2 3prime UTR variants at conserved sites which alter gene expression are associated to ASD
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Aff2/Fmr2-null mice display a delay-dependent conditioned fear impairment and hippocampal increased long-term potentiation (LTP)