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FLASH GENE
Symbol AFF3 contributors: mct/npt - updated : 14-11-2017
HGNC name AF4/FMR2 family, member 3
HGNC id 6473
Location 2q11.2      Physical location : 100.163.717 - 100.759.037
Synonym name
  • MLLT2-related protein
  • lymphoid nuclear protein 4
  • lymphoid nuclear protein related to AF4
  • Synonym symbol(s) MLLT2-like, LAF4
    DNA
    TYPE functioning gene
    STRUCTURE 595.32 kb     24 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text multiple alternatively spliced transcript variants that encode different proteins have been found for this gene
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 splicing 8136 - 1251 - To, Liao (1996)
  • includes an alternate in-frame segment
  • a longer protein (isoform 2) that has a longer N-terminus
  • 24 - 8153 133 1226 - To, Liao (1996)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly Homo sapiens
     spleen   highly
     thymus   highly
    Nervousbrainforebraincerebral cortex highly Homo sapiens
    Reproductivefemale systembreastmammary gland highly
     male systemprostate  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoietic     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte Homo sapiens
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal homology domain is a region of homology shared by the four AFF members
  • proline and serine-rich domain
  • HOMOLOGY
    interspecies homolog to murine Laf4
    intraspecies homolog to MLLT2 ( AF4) and FMR2 (nut2), highly
    Homologene
    FAMILY
  • AF4 family
  • CATEGORY transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies
    text
  • localize to nuclear speckles
  • basic FUNCTION
  • lymphoid nuclear transcriptional activator with DNA-binding capacity and transcription transactivation potential
  • able to bind RNA, having a high apparent affinity for the G-quadruplex 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
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text oncogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interact with the positive transcription elongation factor b (CCNT1)
  • ZFP281 is a critical factor generally associating with AFF3 at enhancers and functioning together with AFF3 in regulating the expression of a subset of genes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    with MLL in t(2;11)(p15;p14) in ALL
    tumoral fusion      
    5'AFF3/3'BCL2 originated from a t(2;18)(q11.2;q21.33) translocation in follicular lymphoma (Impera 2008)
    constitutional   deletion    
    interstitial microdeletion in Nievergelt sndrome (Steichen-Gersdorf 2008)
    tumoral fusion      
    with RUNX1, partner of MLL, in childhood T-cell acute lymphoblastic leukemia with t(2;21)(q11;q22) (Chinen 2008)
    Susceptibility to rheumatoid arthritis (RA)
    Variant & Polymorphism other association of the AFF3 locus with RA susceptibility (Barton 2009)
    Candidate gene for specific changes of the tibia
    Marker
    Therapy target
    ANIMAL & CELL MODELS