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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
Corresponding disease
FRAXE mental retardation, associated with fragile site
Location Xq28      Physical location : 147.582.138 - 148.082.192
Synonym name
  • fragile X mental retardation gene associated with FRAXE
  • mild or borderline mental retardation
  • Ox19 protein
  • Synonym symbol(s) OX19, FMR2, FMR2P, MRX2, FRAXE
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head, opposite orientation
    text head to head with FMR3
    STRUCTURE 500.04 kb     21 Exon(s)
    motif repetitive sequence   triplet
    text structure a CCG repeat in 5'utr
    MAPPING cloned Y linked   status provisional
    Map see FRAXE
    regionally located transcribed distally from the CGG repeat of FRAXE, head to head with FMR3, FRAXE in the interval
    RNA
    TRANSCRIPTS type messenger
    text several possibilities of alternative splicing for exons 2, 3, 5, 7 and 21 (PMID: 19136466)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 13746 145 1311 - 2013 23562910
    20 - 13641 - 1276 - 2013 23562910
    21 - 13716 - 1301 - 2013 23562910
    20 - 13641 - 1276 - 2013 23562910
    20 - 13629 - 1272 - 2013 23562910
    18 - 12280 - 952 - 2013 23562910
    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)