Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol AFF4 contributors: mct - updated : 21-12-2011
HGNC name AF4/FMR2 family, member 4
HGNC id 17869
Location 5q31.1      Physical location : 132.211.071 - 132.299.354
Synonym name
  • ALL1 fused gene from 5q31
  • AF-4 protein related sequence
  • Synonym symbol(s) AF4L, AF5Q31, MCEF
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text in the interleukin growth hormone cluster
    STRUCTURE 88.28 kb     21 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map cen - AFF4 - GDF9 - SEPT8 - KIF3A - IL4 - IL13 - RAD50 - IL5 - qter
    Authors Taki (99)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 9580 - 1163 - 2002 12065898
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Lymphoid/Immunespleen    
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text heart
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal homology domain is a region of homology shared by the four AFF members
  • seven nuclear localization sequences (NLS)
  • HOMOLOGY
    intraspecies homolog to AF-4 protein
    Homologene
    FAMILY AF4/FMR2 family
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,nucleolus
    text
  • localize to nuclear speckles
  • basic FUNCTION
  • transcription from RNA polymerase II promoter
  • involved in acute lymphoblastic leukemia
  • 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
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact with the positive transcription elongation factor b (CCNT1)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    between the Mixed Lineage Leukemia (MLL) and AF4 Family (AFF) member genes, are implicated in leukemia
    constitutional     --other  
    ectopic expression, repressed HIV-1 LTR-directed RNA Polymerase II transcription, at the level of Tat-transactivation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Aff4/Af5q31-null mice display azoospermia as their only phenotype, demonstrating the essential role of this protein in Sertoli cells