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FLASH GENE
Symbol DEF6 contributors: mct - updated : 14-03-2023
HGNC name differentially expressed in FDCP 6 homolog (mouse)
HGNC id 2760
Corresponding disease
IMD87 immunodeficiency 87 and autoimmunity
Location 6p21.31      Physical location : 35.265.594 - 35.289.546
Synonym name
  • IRF4-binding protein
  • SWAP-70-like adaptor protein of T cells
    • Synonym symbol(s) IBP, SLAT, IMD87, SWAP70L
    DNA
    TYPE functioning gene
    STRUCTURE 23.95 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2296 74 631 - 2021 32562707
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a pleckstrin homology domain (PH)
    • HOMOLOGY
    Homologene
    FAMILY SWEF family
    CATEGORY immunity/defense , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • its localization, a Rho-family guanine nucleotide exchange factor, to the center of the immune synapse is dependent upon ITK
  • in addition to its role as a GEF, DEF6 may also function in regulating mRNA translation
  • SWAP70 and DEF6 regulate hematopoietic stem cells/progenitor homeostasis, self-renewal, lineage contributions and repopulation in a distinct and mostly antagonistic manner
  • DEF6 functions as an inhibitor of excessive osteoclast formation and bone destruction in rheumatoid arthritis (RA)
  • SWAP70 and DEF6-mediated restriction of dendritic cell (DC) differentiation converges mechanistically at the NFKB1 pathway
  • DEF6 inhibits the differentiation of both osteoclasts and osteoblasts via a common mechanism through endogenous type-I IFN-mediated feedback inhibition
  • immunoregulatory function of Def6 in bone remodeling
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ITK controlled the central localization of DEF6, which may contribute to the activation of CDC42 at the center of the interface (PMId: 21971040)
  • ITK both interacts with DEF6 and phosphorylates DEF6 at tyrosine residues Tyr(210) and Tyr(222)
  • Rho GTPase-regulatory protein that control both cytoskeletal dynamics and the activity of the transcription factor IRF4 (
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IMD87
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    significantly correlated with a poor prognosis for patients with Clear cell renal cell carcinoma (ccRCC)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    osteoarticularboneostéoporosis
    Def6-dependent pathway may represent a novel therapeutic target to prevent pathological bone destruction
    ANIMAL & CELL MODELS
  • enhanced bone resorption in Def6-/- mice dominates, leading to osteoporosis